Genetic Counselor for a Day 2022

May 23, 2022

May 20, 2022

12:30-1:00pm: Opening Remarks and an Overview of Genetic Counseling - Alex McClellan, MS, CGC

1:00-2:15pm: Review of Specialties

1:00-1:20pm: Laboratory - Maya Galloway, MS, CGC, moderated by Emily Blistine, MS, CGC

1:20-1:40pm: Reproductive - Julie McGlynn, MS, CGC

1:40-2:00pm: Cardiology - Sarah Belsky, MS, CGC

2:00-2:20pm: Pediatric/General/Research - Emily Qian, MS, CGC

2:20-2:40pm: Cancer - Amy Killie, MS, CGC, moderated by Claire Healy, MS, CGC

2:40-2:50pm - Break

2:50-3:05pm - What to Expect in Graduate School - Janice Berliner, MS, CGC

3:05-3:20pm - How to Strengthen your Application to Genetic Counseling Programs - Maria Gyure, MS, CGC

3:20-3:40pm - Current Genetic Counseling Student(s) from the Bay Path Program will talk about their experiences

3:40-4:00pm - Final Audience Questions

Information

ID: 7866
To Cite: DCA Citation Guide

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00:00That are at the better,
00:02but thank you so much for joining
00:04us today and Happy Friday.
00:06My name is Alex. I am a cancer
00:09genetic counselor here at Yale,
00:11New Haven Health and I'll be
00:13acting as the host for today.
00:16So we have some amazing speakers
00:18who have worked really hard to
00:20put this all together for you.
00:22So we're excited to be here and we
00:24certainly hope you find this helpful.
00:31But our goal today is to provide
00:33a more 3D understanding of
00:35the genetic counseling field,
00:37and in reality this is a big ask
00:41because we're a very diverse
00:44and multifaceted profession.
00:46So that's why we have a very busy schedule.
00:49But we'll start with the first half,
00:52which is an overview of genetic counseling,
00:54and we'll have some genetic counselors speak.
00:57About different specialties within
00:59the genetic counseling field,
01:01that's before we take a little break in the
01:03middle and moving on to the second half,
01:06which is more so about
01:08genetic counseling programs.
01:09Graduate School hearing from current
01:12genetic counseling students,
01:13etcetera and there will be a
01:16final Q&amp;A session at the very end.
01:22Over the course of our day,
01:24you will likely have some questions,
01:26so we do encourage you to
01:29utilize the Q&amp;A function.
01:31But if you joined us last year,
01:33it's going to look a little different.
01:35So if you ask that question,
01:37the questions will be picked out by
01:39the moderator to pose to the speaker
01:41at the very end of their talk,
01:43instead of addressing every
01:45question in the Q&amp;A function just so
01:48people can more so focus on what.
01:50Is being presented.
01:51This might mean that not all
01:54questions will be answered.
01:55However, our speakers have been
01:57very gracious to share their
01:59emails and I'll put that slide up
02:01at the very end so if there isn't
02:03a time to address your question,
02:05we'll have the Q&amp;A session at
02:07the very end and as well as the
02:10speakers emails as well.
02:11So sometimes the speakers will
02:13have a question for you guys,
02:15so keep an eye out for the polls
02:18and be ready to answer those.
02:22And whether you're able to
02:24attend for the full day today,
02:26whether you're able to attend for
02:28maybe some of the day or not at all,
02:30all of the registrants who signed up
02:32for this event will be sent a short
02:35survey and maybe about a week's time.
02:37And once you complete that survey that
02:39will take you to a recording of the event.
02:42So thank you in advance for answering
02:44those questions for us so we can help
02:46improve this event for future years.
02:53A little bit about me now.
02:55I graduated back in 2017 with my Bachelor
02:58of Arts and Biology and Society.
03:02I knew that I wanted to
03:03be a genetic counselor,
03:04so I felt that that really bridged
03:06both the science and people,
03:08which is what I liked about the
03:10genetic counseling profession.
03:11And then I went in to my Masters
03:14program at the Icahn School of
03:16Medicine at Mount Sinai in New York,
03:19and my first job and current job
03:21is working as a cancer genetic
03:23counselor here at Yale, New Haven.
03:29So when I tell people that I
03:30work as a genetic counselor,
03:32almost always they will ask me what
03:35is a genetic counselor and I think
03:37genetics has always been a hot topic.
03:40Whether it's in the news or sci-fi.
03:43So hopefully today over the course
03:45of our session we'll be able
03:47to take a better look at what a
03:49genetic counselor is in reality.
03:54And I always say that it's not.
03:57It's not rocket science,
03:58so if we think about genetic counselor
04:00and break it down, we have genetics.
04:03So thinking about DNA, genes,
04:05chromosomes and then we have
04:07counseling and planning.
04:08Conversation, conveying information,
04:10maybe eliciting feelings about
04:12that information, etcetera.
04:15Now at the most basic level,
04:17then a genetic counselor or
04:19genetic counselors or healthcare
04:21professionals with advanced training.
04:22In medical genetics and counseling,
04:25who educate,
04:26guide and power and support patients
04:29seeking information about inherited
04:30diseases and conditions in order to
04:33provide a better understanding of how
04:36genetic information impacts patients
04:38lives and the lives of their family members.
04:41So it's a long winded explanation,
04:44but we wear a lot of different hats,
04:47so there's no other way to put it.
04:51But really this is a profession.
04:53That was born out of the understanding
04:55that genetic information can be sensitive.
04:58It can be confusing at times
05:00and personal always,
05:02so a genetic counselor can help
05:05patients navigate this path.
05:07And they might talk about whether
05:09genetic testing is right for a patient.
05:12That might mean explaining the genetic
05:14test results and what they mean for
05:16the patient and their families.
05:18Identifying resources for
05:19the patients afterwards,
05:21etcetera.
05:25And it might also be helpful to think
05:28about what a genetic counselor is.
05:30Not so genetic counselors will typically
05:33have a masters degree and that focuses on
05:37both clinical genetics and counseling skills.
05:41Genetic counselors or GC's can work with
05:43patient, or they can work with doctors,
05:46or they can work independently,
05:48and this is compared to a medical
05:51geneticist or clinical geneticist who
05:53have an MD or MD equivalent degree
05:56and specialized training in genetics.
05:59Meaning maybe they did an additional
06:01fellowship in genetics after
06:03completing their residency.
06:05They also have a specific board
06:07exam that they have to pass,
06:09and unlike genetic counselors.
06:10And they're able to perform a physical exam.
06:14They're able to perform procedures
06:17and diagnose diseases.
06:19A laboratory do not assist.
06:21On the other hand,
06:23is someone who has maybe an
06:25MD or MD equivalent degree.
06:27They might have a PhD and they're
06:29working more so behind the scenes,
06:30so either with the testing technology
06:33itself or the interpretation of the
06:36findings but altogether genetic counselors,
06:39medical geneticists,
06:41laboratory geneticists,
06:42they work together to utilize
06:44genetic testing as part of someone's
06:48overall comprehensive medical care.
06:53But back to genetic counselors.
06:55So we're thinking about education,
06:58helping with diagnosis,
06:59and helping a families or individuals cope.
07:02Providing that soap psychosocial
07:05support advocating for patients,
07:07and contributing to risk
07:10estimation for inherited diseases.
07:17But if you've googled genetic
07:18counseling in the past, you were likely
07:21inundated with different acronyms,
07:23so I wanted to break that down a
07:26little bit here in the ABC's of
07:28the coming of genetic counselor.
07:31As I mentioned earlier,
07:32genetic counselors obtain a Masters
07:34degree in genetic counseling that
07:37typically lasts for about two years
07:39and that is from a program that's
07:42accredited by the Accreditation
07:44Council for Genetic Counseling a CGC.
07:47Currently there are 57 training programs
07:50within the United States and Canada,
07:53and as I mentioned earlier,
07:55it's usually classroom based
07:57as well as clinical rotation.
07:58So going out and working with
08:01genetic counselors in the field,
08:03helping conduct sessions, etcetera.
08:07Once someone graduates from one
08:09of these accredited programs,
08:10they sit for a board exam that's
08:13put out by the American Board
08:15of Genetic Counseling or AB GC,
08:18and that's offered twice a year.
08:22So once in February and once in August,
08:25and once someone passes that
08:27board examination,
08:28they get the title of a certified
08:32genetic counselor or CGC.
08:34About 90% of genetic counselors.
08:36Hold that CGC certification.
08:41And depending on where someone goes to work,
08:43they might be required to obtain
08:47a state licensure as well.
08:49Here in Connecticut,
08:50that is something that we have to do,
08:52but it's just a matter of providing
08:55the appropriate documentation that
08:57you are legitimate genetic counselor.
08:59You have the appropriate training
09:01as well as paying a small fee.
09:07And about 62% of genetic counselors
09:09have one of these licenses.
09:17Compared to some other professions,
09:20the genetic counseling field is
09:22relatively new and the first genetic
09:24counseling program was founded at
09:26Sarah Lawrence College in 1969.
09:28And since then, there have been many
09:31important milestones in the development
09:34of the genetic counseling profession.
09:36So our first professional
09:38organization was founded in 1979.
09:41That's the National Society of
09:43Genetic Counselors, or the NSGC,
09:46which you'll be hearing me
09:48reference multiple times throughout
09:50our talk and also of course,
09:52moving on from the first professional
09:55organization to obtaining
09:57state licensure in 2000, and.
10:00To Utah was the first state to provide
10:03licensing for genetic counselors and in 2022,
10:06about 31 states.
10:07The last time I checked offer one of these
10:11offer licensing for genetic counselors.
10:17So first poll for today.
10:19Let's see if I can access that.
10:32How many certified genetic counselors
10:33are there in the United States?
10:35So this is your closest estimate as of 2021.
10:45And now give maybe 10 more seconds
10:48or so to get your answers in.
11:01OK, so most people most
11:04people were on the nose.
11:07Most people said B are 5500.
11:11About 61% of you said that,
11:13and that's correct.
11:17There are currently a want to say
11:235629 CGC's within the United States.
11:27There are maybe 2000 or so
11:29practicing genetic counselors
11:30outside of the United States.
11:32According to a 2019 paper.
11:34But yes, about 5500. So good job.
11:39Umm? And this is a profession
11:43that has continued to grow.
11:45It's growing 100% since 2010,
11:48and the projected growth rate for
11:51the genetic counseling profession
11:52is about 21% through 2029.
11:55That's compared with a 7% average
11:58growth rate for all occupations,
12:00which is very reassuring to see.
12:05No, this is a profession that has been
12:07named one of the best jobs by U.S.
12:09news for several years.
12:11The NSGC puts out a professional
12:15status survey to their membership and
12:18nine out of 10 genetic counselors who
12:20responded to that survey reported that
12:23they are satisfied with their job,
12:25and this satisfaction can come from
12:27a variety of different reasons.
12:29Whether it's from intellectual stimulation
12:31on the job and or working with.
12:34Patients et cetera.
12:35And you can see the variety here.
12:42A genetic counselor can work in a
12:44different areas of practice as well.
12:46So the traditional role
12:48is direct patient care.
12:49So working with patients perhaps in clinic,
12:52I'm working an education and
12:55teaching of genetic counseling and
12:58about 51% of genetic counselors
13:00work in direct patient care roles.
13:03That's compared to the 27% that
13:06are in non direct patient care.
13:08So maybe a genetic counselor.
13:09Working in a laboratory as part of
13:12their variant curation team or even
13:15customer service and 22% of genetic
13:17counselors have the best of both worlds,
13:19so may be doing.
13:22Working in the with the patients
13:24as well as research on this side.
13:26So if 5050 split,
13:28most genetic counselors are working
13:31full time and the majority have
13:34worked remotely as part of or
13:36all of their position in 2021.
13:42Genetic counselors can also
13:43work in different specialties.
13:45The majority of genetic counselors
13:47are practicing in cancer genetics,
13:50followed by prenatal or reproductive
13:53genetics and pediatric genetics.
13:55They can also work in different settings,
13:58whether that's in the
13:59laboratory or in the hospitals,
14:01and we're lucky to have a lot
14:04of speakers from these different
14:06specialty areas joining us today.
14:08Some people are practicing in
14:10multiple areas at the same time,
14:13all with the same genetic counseling degree.
14:18But I don't know how these
14:19people here are doing for more
14:21practice areas at the same time.
14:23But there is variety and flexibility
14:25to a genetic counseling degree.
14:29And the good old fashioned
14:31way is working in person one,
14:33providing direct patient care.
14:34So meeting with someone in clinic nowadays,
14:38especially with the onset of COVID-19,
14:40we've been utilizing telephone or
14:42web based service models, less so.
14:45Group counseling, understandably.
14:49But it makes it a little easier
14:51when we're able to obtain DNA
14:53sample through a saliva sample,
14:55which can be collected at home.
14:57A blood drive, of course,
14:59is a little more difficult
15:00to collect from home,
15:01but we'll talk about that
15:02a little more later,
15:04and genetic counselors are very flexible,
15:06so they're typically utilizing
15:08multiple service delivery
15:09models for their patient care.
15:16Thinking about salaries,
15:17which is of course an important
15:19factor when deciding whether this
15:21is the right profession for you.
15:24The average salary according to the
15:27most recent professional status survey.
15:29The results were just released to
15:31May 3rd this year, but the average
15:33salary is approximately 102 and
15:37but it's important to note that that can
15:40vary significantly depending on your role.
15:42So whether you work in an indirect or non.
15:44Direct patient care position
15:46and where you're located,
15:48geographically speaking, as well as
15:50your number of years of experience.
15:53The average starting salary for a genetic
15:55counselor out of school was about 78.
16:02And as part of that
16:03professional status survey,
16:05the NSGC also asks about different
16:07demographics to get a better sense of
16:10the representation within the profession.
16:12At this time, the majority of
16:15respondents identified as female,
16:17about 10% of respondents,
16:19identified as non white.
16:21Almost all respondents
16:22reported they speak English,
16:24but a total of 51 spoken languages
16:27were noted by respondents as well so.
16:30Recognizing that the diversity within
16:33the genetic counseling field can stand
16:36to improve and that as a profession
16:38we need to be supportive of existing
16:41minority genetic counselors and the
16:43NSC has prioritized justice equity,
16:46diversity and inclusion recently forming
16:50a J EDI Committee to address these issues.
16:56And you can see here the JDI
16:59committee has identified various
17:01strategies to support their goals,
17:03including working to recruit and retain
17:07diversity into the profession and the
17:10issue of increasing diversity within
17:12the genetic counseling field has also
17:15been recognized outside of the NSGC.
17:17Somewhere recently, the Warren Alpert
17:21Foundation has given a five year,
17:24$9.5 million grant.
17:26To create the alliance to increase
17:28diversity in genetic counseling.
17:30And this is a program that will recruit
17:33and train 44 zero that is genetic counseling.
17:36Students providing full tuition,
17:38scholarships and stipends to cover
17:41living expenses during that time and
17:43this will be implemented through the
17:46five programs that you can see here.
17:48In addition,
17:49the minority genetics professional
17:51network or the MG PN was formed
17:54in November 2018 to provide a.
17:59To provide a space for minority
18:02genetic counselors or diverse genetic
18:06counselors from diverse backgrounds
18:07to connect with one another,
18:09and they also have a prospective
18:11students slack channel,
18:12so feel free to join there.
18:16And finally,
18:17as far as diversity of nationalities,
18:19there is the International Special
18:21Interest Group or SIG that's also
18:24available for prospective international
18:26students applying for graduate
18:28training programs in the United
18:30States and so if you're looking,
18:32or if you're tuning in internationally
18:34from Canada or elsewhere,
18:36and this might be a great place
18:38to look for additional resources.
18:42Umm? But let's talk a little bit more about
18:45the traditional genetic counseling session,
18:47just to give us a backbone before we
18:50hear from our other genetic counselors.
18:53So keep in mind that this can be very
18:55different depending on your role,
18:56but basically, or generally speaking,
19:00genetic counseling first starts with
19:03a detailed medical and family history,
19:06so the pedigree or the family tree.
19:09That's the bread and butter
19:10of genetic counseling.
19:11It's used to document many features.
19:13That are crucial to a genetic
19:16counseling session as far as
19:18different generations of individuals,
19:20how they're related and maybe even
19:23traits of interest all in one neat,
19:26concise little picture.
19:28But instead of using dinosaurs and amoebas,
19:32we use shapes.
19:35So those who are assigned male at
19:38birth are designated by a square,
19:40while those who are assigned female
19:42at birth are designated by a circle
19:44and a diamond shape can be used for
19:46individuals who are gender nonconforming,
19:49or when the sex assigned at birth
19:51is not known.
19:52A line through the sheep is indicating
19:54as someone who has passed away.
20:00After obtaining that information,
20:02we'll use that to perform a risk assessment
20:05or the likelihood of identifying a
20:08genetic mutation in a given patient.
20:10So genetic counselors are professionals
20:13trained in science communication,
20:15and we typically spend some time
20:18during a session to review genetics
20:21with the patient themselves.
20:23If genetic testing is indicated,
20:26genetic counselors can communicate the risks,
20:28the benefits,
20:29the limitations of genetic testing
20:31in order to obtain informed consent
20:34before coordinating the testing needed,
20:37but frenetic testing is not always needed.
20:43And there are many different
20:45types of genetic tests,
20:46so on the left hand side those are
20:49medical or clinical genetic tests
20:51that are typically involving a
20:53genetic counselor to some capacity.
20:56So we have diagnostic testing
20:58which can be used to confirm
21:00to rule out a genetic disorder.
21:04Carrier screening or carrier testing,
21:07and that is done prior to or during a
21:10pregnancy to see if the patient and
21:13or partner are carrying a gene that
21:16might cause a congenital defect or disorder.
21:19And there's also prenatal diagnosis testing,
21:23which is used to detect abnormalities in
21:25a fetus's genes before birth to identify
21:29congenital disorders or birth defects.
21:33Newborn screening is a routine
21:35test mandated by law to screen for
21:37a set of inheritable diseases or
21:40disorders such as cystic fibrosis.
21:42This is something that can
21:45differ between states.
21:46And then predictive diagnosis which is
21:49testing for known disorder in the family
21:52to understand risk for that disorder.
21:55So for example,
21:56if someone has a BRC A1 mutation in
21:59their mother and we're doing targeted
22:01testing for that patient individually.
22:06On the other hand, on the right hand
22:08side there are also non medical or non
22:10clinical tests that do not typically
22:12involve the genetic counselor,
22:14but something that you might hear of
22:16or patients might bring bring to you.
22:22Obtaining a sample.
22:23It's a bit of a pick your poison option
22:26or choose your own adventure here,
22:28but usually it's either done through
22:31a blood draw or a saliva sample.
22:35And finally, insurance companies are.
22:40Increasingly better about covering
22:42the top cost of genetic testing,
22:45especially when there's an
22:46indication such as a personal
22:49and or family history that's
22:50suggestive of an inherited disease.
22:56Of course, if you're ordering
22:57testing for a patient,
22:58you then have to disclose the
23:01test results to the patient.
23:03We review information as far
23:06as screening and management
23:08recommendations or next steps based
23:10on those genetic test results.
23:12You can help the patient by
23:15identifying research or resources for
23:17them and for their family members,
23:19as well as speaking through
23:22coordinating genetic testing and or
23:24counseling for at risk relatives
23:27who might also let's say have that
23:29mutation or need genetic testing
23:31otherwise and at the very end you
23:33wrap it all up and a nice bow and
23:36summarize it for the patient so
23:38they can have it for their records.
23:43So without further ado,
23:44now that you have a good
23:47foundation of genetic counseling,
23:49I'm going to pass it off to Maya.
23:51She'll be presenting on her role as
23:53a laboratory genetic counselor as
23:55the first of our many specialists,
23:57so let me see.
23:58Let me see if I can do this properly.
24:12Sorry, just one second. Yeah.
24:18OK.
24:31OK. So are you saying the PowerPoint?
24:37Yes, it looks great.
24:38OK, good thanks. OK. Umm?
24:44Sorry OK. So my name is Maya and I'm
24:48one of the genetic counselors at the
24:52Yale BNA Diagnostics lab and I'm going
24:55to be speaking about what it's like
24:58to work for a clinical laboratory in
25:01a university setting and then our
25:04other genetic counselor at the lab.
25:07Emily Voiceline, is going to
25:09be moderating in the chat, so.
25:11Please feel free to ask any
25:14questions that you've got there.
25:20So first we'll talk about
25:23our own backgrounds.
25:24I'm a certified genetic counselor
25:27currently licensed in Connecticut.
25:30I graduated in 2021.
25:32From Long Island University Post
25:34and I did my undergrad degree
25:37at University of California,
25:39Santa Barbara in biological
25:42anthropology at largely focusing on
25:46human evolution and human variation.
25:50So I was a non traditional student
25:54and took a five year gap between
25:57graduating from undergrad and then
26:00starting at my program in 2019.
26:05Out of undergrad, I shifted careers
26:07around a few times and then ended up
26:11becoming a copywriter for a marketing
26:13and public relations business for
26:16about five years worked there up until
26:20my last year of Graduate School.
26:23So I would be happy to speak about
26:26my experiences as a nontraditional
26:28student later on in the Q&amp;A.
26:31Or, if you'd like to email me.
26:34But this was my first job
26:36out of Graduate School,
26:38so I've been working here
26:40since August of last year.
26:43So now I'm going to let Emily speak
26:46about herself and introduce herself.
26:50Hi everybody, my name's Emily.
26:53I am also a certified genetic counselor
26:56in B DNA lab and licensed in Connecticut.
27:00I graduated from the Brandeis
27:03University program in 2021 and my
27:07undergrad I got my BS in Biology
27:10from Allegheny College in 2016,
27:13and so if you can do math,
27:15you might have noticed.
27:16I also had a few gap years in between
27:19undergrad and Graduate School.
27:20However, I took a little bit more of
27:23a traditional route and I actually
27:25worked as an accession or at a
27:27combined cytogenetics and molecular
27:29genetics lab in between that.
27:32And this is also my first job out
27:34of Graduate School, so I started
27:36at the DNA lab in September of 2021
27:40and now we'll turn it back to Maya
27:41to talk about our daily duties.
27:46OK. Umm? There we.
27:51So at a small lap like ours,
27:54the genetic counselors take on
27:57some pretty versatile roles. Umm?
27:59So my primary responsibility
28:01is being a liaison between the
28:05ordering providers at the billing
28:07and prior authorizations teams,
28:10and then the different members
28:12of the laboratory.
28:13Like the lab techs or our
28:17molecular genetics tests.
28:19So as part of my job,
28:21my offer post has support for
28:23owner ordering providers who have
28:26any sort of additional questions
28:28about the result or follow up.
28:31And finally we also do
28:35interpretation of the data for.
28:39Panel tests,
28:39tumor tests and then single site tests.
28:42So we work on variant
28:44interpretation for the lab also.
28:49So as I said before, assisting
28:51ordering providers as my primary role,
28:55I take questions about future orders,
28:58such as if the lab can offer a certain test.
29:03For example, we get a lot of
29:06questions about whether we can do
29:09testing for pseudogenes where next
29:11generation data might not be the
29:13best or for non sequencing tests.
29:16One well known example would be
29:20fragile X testing where you're not
29:23looking so much at single changes in
29:26the gene so much as these repeats.
29:30So that's done with a different sort of test,
29:33and we do do that.
29:35It definitely helps to have a
29:38strong background and interest in
29:42molecular genetics to work at a lab.
29:45Then you definitely learn a lot more about
29:50molecular genetics as you work here.
29:52So I also assist in questions about
29:56insurance coverage and authorization.
30:00The lab has to review certain tests
30:02where we can't get authorization from
30:05insurance and it's my job to review
30:08the clinical notes from those orders
30:11to determine whether the patients meet
30:13criteria based on their payer as guidelines.
30:16So I do this with the assistance
30:19of somebody from the billing team
30:22or a coder who's expertise is in
30:25actually reading and interpreting
30:28the policies themselves.
30:30Our our lab offers something
30:34called virtual panels.
30:36So the entire exome is sequenced,
30:39then we only report on the genes
30:42or conditions that the providers
30:45specifically requests in the order.
30:48So I take calls from our
30:50providers or get emails.
30:52Sometimes requesting customize Gene
30:54lists or we have set gene lists that
30:58we're already using for some providers.
31:04And then as a follow up to positive
31:07test results, all email providers
31:10to let them know about a pathogenic
31:13test result before it's reported or
31:16at the same time that it's reported
31:19directly to a patient's chart and.
31:22Umm, I get requests about all preconditions
31:27and maybe which other specialties they
31:30might want to refer their patients too.
31:34And also take any sort of increase about
31:38existing orders and pending results.
31:41Such as what the expected turn
31:43around time is,
31:44or if the test is already processed.
31:50So a laboratory stewardship is a
31:52really crucial part of working at a
31:56genetic genetic testing laboratory.
31:58A lot of labs are hiring genetic
32:01counselors because our training is
32:03really focused on selecting the most
32:06appropriate tests based on individual.
32:11Or personal. Sorry, personal or
32:15family history of these individuals.
32:19So we know how significantly these
32:22results can affect patients future
32:25health and management if they do
32:27end up getting a pathogenic result.
32:30So we need to make sure that the
32:32tests being ordered is appropriate,
32:34and then this also helps with insurance
32:37coverage because it can be very
32:39difficult to get some of these tests
32:41covered and we want to make sure that.
32:46Whatever is being ordered is going to
32:48be the most appropriate the first time.
32:51Because once you get a denial,
32:53resubmitting can be more and more
32:57difficult for additional tests.
32:59So I review every order
33:01that comes into the lab.
33:03Some of our ordering
33:05providers rely on the web,
33:06two select generalist based on
33:09the patients genotype or whatever
33:12sort of condition or different
33:15symptoms they're experiencing.
33:17And. So we are able to customize.
33:22As I said before,
33:24and we accommodate those requests
33:26and I work with our geneticist to
33:29determine what sort of gene list
33:31would be appropriate for the order.
33:34Another concern is that providers
33:37might simply place the wrong
33:39order because they can't figure
33:42out which one is the right option
33:44based on our lab test menu.
33:46And we do it a little bit differently
33:50here than the commercial labs,
33:52because we only have a set number of
33:55order tables and they order directly
33:58through our electronic medical system,
34:01which we use is EPIC.
34:03So maybe they want to place an order
34:06for a known familial variant only,
34:08but then they selected an
34:11extended gene panel.
34:13Because they didn't know that they needed
34:15to search for something else in epic,
34:17so they might write a comment
34:19about a specific gene,
34:21so I would be the one reaching
34:23out to the provider who's after
34:26reviewing the clinical information
34:28and presenting different test options
34:30and making sure that we actually do
34:33want to do an expanded test rather
34:35than that really targeted test.
34:38It's very important that the
34:40patient does not receive information
34:42that they did not.
34:43And sent to when they were counseled about
34:46the results that they would be getting.
34:51So Emily is going to talk
34:54about one of her roles.
34:57Which is not directly related
34:59to genetic counseling,
35:01but it shows how our education
35:03and expertise can be applied
35:05to different areas.
35:06And that's data management
35:08and bioinformatics.
35:09I'm gonna let Emily take over again.
35:14So yeah, my position as mayor
35:18just mentioned. One part
35:20of it is the definitely not a
35:22traditional genetic counseling role,
35:24but that is something that I honestly
35:27really liked about the position when I
35:29was applying and it really just goes
35:31to show how versatile what we learn in
35:34genetic counseling school is and how
35:36that skill set can be used in a bunch
35:39of different ways other than just seeing
35:41patients or even the more traditional
35:44laboratory genetic counseling role so.
35:46The biggest part of my job is
35:49bioinformatics and data management,
35:51so our lab does a lot of the
35:54lab work in house,
35:55so we extract the DNA ourselves.
35:58We do the analysis ourselves.
36:00We do Sanger sequencing ourselves,
36:02but one thing we don't do ourselves
36:04is next generation sequencing.
36:06So any sample that needs next generation
36:09sequencing is sent out to another part
36:11of the Yale and then when we get that
36:14next generation sequencing data back.
36:16It is my job to turn that sequencing data
36:20into data that is usable for our analysts
36:23to be able to write the reports and.
36:27Get that.
36:28Was those results back to
36:30the ordering providers?
36:32And also when the data is
36:35made usable, making sure that
36:37it is in an easily accessible
36:39location for everybody to find.
36:40So I'm the person who if
36:42somebody's looking for something,
36:44they come to me and at first glance
36:46this might not seem like it is
36:48super related to genetic counseling,
36:50but in this process I'm also looking
36:54over the orders for all the samples
36:57that I'm working with that week.
36:59And I'm kind of serving as yet another
37:01check after Maya and other people
37:04just to make sure that once again
37:06the orders are appropriate and there
37:08are no issues with insurance so.
37:10My genetics knowledge that I gained
37:13in Graduate School is definitely very
37:15helpful for this and just allows me
37:18to serve as yet another checkpoint,
37:20because you can never have too many
37:22to make sure that everything looks
37:24good with these orders and we're
37:26actually getting the providers
37:28the information that they want,
37:29and so I will turn it back to Maya for
37:31the other part of my job and something
37:33that we are both very involved in,
37:35which is very an interpretation
37:37and report writing.
37:43So as Emily mentioned,
37:44both of us work on variant interpretation.
37:48So what we do is we analyze the raw
37:51data that comes into the lab and
37:55follow a CMG guidelines to classify
37:58variants and this is standardized
38:01across every genetic testing
38:04laboratory in the United States.
38:09So we use various databases
38:12to back our interpretation.
38:14Some of you might be familiar with
38:16them if you worked in the lab at all,
38:19or had any undergrad experience in
38:22genetics in a clinical setting.
38:25So we use glenvar genome for example,
38:29and then our own internal database.
38:31So the lab has our own database for
38:34we record the specific changes in
38:37the gene that we've seen before.
38:40And the phenotype or the symptoms
38:43that accompany those changes or
38:45what it's been correlated with?
38:47Because they're not always related,
38:50but it is good to have that backup
38:52if it's a very rare sort of change.
38:57So we also assist the lab directors
39:01in reviewing the reports that are
39:04ready for sign out. And which hack?
39:07Or we look at the clinical information
39:10and make sure that it's clear and
39:14is appropriate for the condition
39:16that's being reported,
39:18and that there are no major errors.
39:22For example, spelling errors,
39:24we try to catch,
39:26or if there's any sort of error
39:28in the gene name like,
39:31because some of them,
39:32it's just a series of letters and numbers.
39:36It can be really easy to miss those
39:38sort of typos if you're staring at that
39:41report for hours as you're working.
39:47So variant interpretation is
39:49a role that a lot of labs are
39:52hiring genetic counselors for,
39:54and I personally was not aware of
39:56that prior to starting my graduate
39:59program and some of the programs
40:03do introduce very interpretation.
40:06So for example at Long Island University
40:08we had a course with one of the major
40:12commercial labs and we had weekly
40:14data interpretation assignments.
40:15But a lot of the labs are also
40:19training genetic counselors to
40:21analyze and write test reports
40:23because they have their own methods,
40:26their own data systems, so.
40:29They really are just looking for this
40:31sort of clinical and molecular expertise
40:33that genetic counselor is doing up
40:36getting through our graduate degrees.
40:42So you'll be hearing from some
40:44of our other genetic counselors
40:46about what their roles are like
40:49in a clinical setting and overall,
40:52laboratory genetic counseling is fairly
40:54different in a non patient facing role.
40:58And so I'm not in a patient facing role and
41:04my interaction with patients is very limited.
41:07I will sometimes take calls from anxious
41:11patients who are requesting updates
41:14on test results and my psychosocial
41:17skills that I've learned from genetic
41:21counseling school come into play there.
41:25But I also need to redirect them
41:27to contact their ordering.
41:29Provider or secret approval to genetics,
41:32so I am not in the sort of role where you
41:35would be counseling or speaking to patients.
41:41So I do get to see every test
41:44order that comes into our lab.
41:46I need to review each test order.
41:50So I get to learn about a lot of
41:53different conditions and what genes
41:55might be associated with them,
41:57because as I said before,
41:59I'm reviewing those orders to find
42:01appropriate gene lists that the
42:04provider is not specific about what
42:07gene lists they do want included.
42:09It's a great way to continue learning.
42:14In the jaw and I'm exposed to some
42:18really interesting and unique cases.
42:21So the skills that we learn in our graduate
42:25programs also get applied in new ways.
42:28Instead of reviewing clinical notes
42:30to prepare to counsel a patient,
42:33for example,
42:34I'm going to be reviewing those notes to
42:37determine what gene list can be applied
42:40to based on the differential diagnosis.
42:43Or, as I said before,
42:45seeing if they meet criteria for testing.
42:47If their insurance company
42:49is leaving it up to us.
42:52And in those cases where we
42:55can't get prior authorization.
42:57So we also get to interact with
42:59a lot of different providers and
43:01a system as they're following up
43:04with on results or want to learn
43:07more about what the result or
43:10the test is or what it means.
43:14For example,
43:15I once received a phone call from
43:17a primary care Doctor Who wanted me
43:19to help him come up with a strategy
43:22for explaining the results of his
43:24patient and advising on following
43:26up testing for family members.
43:29Because he was an older doctor,
43:31he admitted to me that his education in
43:35genetics was very basic and he really
43:38didn't know how to handle that status.
43:40So I really enjoy being able
43:43to collaborate with and educate
43:45some of the physicians or other
43:48providers like nurses or physicians
43:51assistants about genetic counseling.
43:56And helping them come up with strategies
43:59for speaking to their patients.
44:01So Emily's work in bioinformatics also
44:05showcases that we get the opportunity
44:08to learn new skills that would not
44:11necessarily be learned in a clinical
44:14setting where we're facing patients
44:16and also shows that genetic counseling
44:19degrees can be applied in some pretty
44:23interesting and diverse work settings.
44:25I think many of us pictured being
44:28in a clinical setting long term
44:30when we entered Graduate School.
44:32But sometimes you find that maybe
44:35that's not what you want to do long
44:38term or you want to experience
44:40some other areas of genetics.
44:42And working in a genetics lab
44:45is really a great way to learn.
44:49To apply those skills that you've
44:52learned in a new and different way,
44:56and it's pretty rewarding.
44:59And it's very interesting.
45:02So I'm going to stop sharing my screen,
45:06but I would be happy to take a look
45:09and see if there's any questions
45:11that we've got in the Q&amp;A.
45:17Let's see.
45:23I think there's one,
45:25and if maybe both of you would
45:27be able to comment on how did you
45:30decide or what was maybe the the
45:33I'm lacking the word now,
45:36but what precipitated the decision
45:38to move into laboratory genetic
45:40counselor after Graduate School?
45:44So I can answer first,
45:46since I'm already unmuted.
45:50But it wasn't necessarily a plan for me.
45:55I applied to a lot of different roles and
45:59interviewed with a few different places,
46:02but I really liked just that.
46:05That sort of versatility of this role.
46:09I've always had an interest
46:11in molecular genetics,
46:12so more than just looking at the sort
46:15of symptoms and counseling people I
46:18really like knowing what goes into.
46:22What comes out of a test?
46:25Basically like how is that data
46:29being interpreted to say that?
46:32Because of this sort of
46:34genetic change, this is.
46:35This is what might happen with this
46:38person as far as their health. Goes.
46:42And something about my position is
46:44that I will be getting the opportunity
46:47to do more of a hybrid position.
46:49In that I'll be seeing patients once a week,
46:54so that was another thing
46:55that I really liked.
46:56I wasn't really drawn to a full
46:59time clinical position necessarily,
47:01because I do like being in
47:04the laboratory setting,
47:05but I just love the fact that.
47:07I could really.
47:11Go in any direction that I wanted to.
47:15By working at the lab,
47:17within reason, of course,
47:19but it's it just allowed me to.
47:22Really look how all this sort of
47:24different interests that I had.
47:32Emily, do you have?
47:34Yeah, so I think for me a big
47:37part of it was actually my work
47:40that I did before Graduate School,
47:42so I was in a lab
47:44for two years and working with
47:47laboratory genetic counselors there
47:49and they knew I wanted to be a genetic
47:51counselor so they were really great
47:54about like keeping me in the loop
47:56with everything that they were doing
47:57and kind of showing you the ropes.
47:59A little bit, and through that I came
48:01to really appreciate just how varied
48:04the genetic counselor role can be.
48:06Prior to that, I really only had
48:08exposure to clinical genetic counselors,
48:10so I really found it fascinating
48:13that I could be genetic counselor,
48:15but still kind of help behind the scenes,
48:17almost not necessarily seeing patients,
48:20but with the testing itself and
48:22that kind of drove me to think
48:25about maybe going into laboratory
48:27straight out from Graduate School.
48:31And then I also see some other questions,
48:34one specific to bioinformatics.
48:37So I actually worked with a bioinformatics
48:43expert and he kind of taught me
48:45the ropes to do what I need to do.
48:48I'm definitely not an expert whatsoever,
48:52but I can do the job and I think the
48:55reason that I was tired was they were
48:57more looking for somebody who could
48:59kind who had that genetic knowledge.
49:01And they figured it would be easier to
49:04have somebody who already
49:05had that, like I learned in genetic
49:07counseling school and teach me the little
49:10bit of bioinformatics that I needed to know,
49:12rather than getting a bioinformatics
49:15person and teaching them everything about
49:17genetics that is needed for my job.
49:22Excellent and we do have
49:24some other great questions,
49:25but I have to be strict about
49:28our timing since we have such a
49:30busy schedule, so I'm pleased.
49:32Stay tuned afterwards and when we
49:34have the general Q&amp;A we'll try to
49:36answer as many questions as we can,
49:38but I think we'll pass it over to
49:40Julie for our talk about reproductive
49:42genetics and thank you Maya and Emily.
49:44That was a great presentation,
49:46and we've been doing this for
49:47three years now and I feel like I
49:50learned something new every time.
49:51So thank you again.
49:54Great hi everyone.
49:57Julie, let me get you on the
50:01spotlight. There we go. Perfect.
50:11So hello, my name is Julie.
50:14I'm a reproductive genetic counselor
50:16at Yale and I work in the
50:19Department of Obstetrics,
50:20Gynecology and Reproductive Sciences.
50:22Specifically in the section of maternal
50:26fetal medicine and I frankly could not
50:29do what I do without Maya and Emily.
50:33And the work that they do
50:35because we may be the.
50:37People in front of the patients,
50:39but they are doing the work as
50:41they said behind the scene that
50:44allows us to really provide
50:46answers for many of our patients.
50:51So with regard to my professional background,
50:54I graduated from the Joan Marks
50:56graduate program in Human Genetics
50:58at Sarah Lawrence College.
51:00I am not going to say what year I
51:04have been working in maternal fetal
51:06medicine at Yale for over five years.
51:09And I would say that over 90%,
51:12probably more than 95% of the individuals
51:15that I see are considered high risk with
51:19regard to either their maternal or fetal
51:23concerns or a combination of the two.
51:26And I previously worked at two
51:28different medical centers and over
51:31the years have had the opportunity
51:33to specialize in not only prenatal
51:36or reproductive genetic counseling,
51:38but cancer, pediatric and adult
51:42genetic counseling services.
51:45So my jobs have predominantly
51:47involved direct patient care.
51:49I've also engaged in various
51:53clinical research studies and.
51:56Currently and with my last job,
51:58I would say at least 5% of my
52:02position involves teaching.
52:04Currently I'm teaching the maternal
52:07fetal medicine fellows every two weeks.
52:10I provide a lecture so that they
52:12can be introduced to various
52:14genetic topics that will help them
52:16when they are out in the field,
52:18as well as help pass their board exams.
52:21But sometimes I'm called in
52:23to speak with nurses.
52:25Social workers sonographers,
52:28et cetera to really educate them about
52:32what I do and how I can support their
52:37job and their patient population.
52:40In the past I served as the Director
52:43of Clinical training and as a clinical
52:45rotation supervisor for students
52:47that were enrolled in the genetic
52:49counseling program at the Icahn
52:51School of Medicine at Mount Sinai,
52:54and to date I have had the pleasure of
52:58working with and supervising over 200
53:01genetic counseling interns who were
53:03enrolled in various genetic counseling
53:06training programs across the US,
53:08so.
53:10I would say they keep me on my toes
53:12and make sure that I'm staying on
53:15top of everything within my field,
53:18which is great.
53:19So I wanted to step back and talk about
53:22the difference between when I say a
53:25prenatal or reproductive genetic counselor,
53:28since sometimes you'll see
53:30those used interchangeably,
53:32but in if we start with prenatal,
53:35that's really talking about
53:38what is occurring or existing
53:40during pregnancy before birth.
53:42So prenatal care is the health care
53:46that women receive during pregnancy and.
53:49Some genetic counselors refer to
53:51themselves as prenatal genetic
53:52counselors because they are either
53:54predominantly or exclusively working
53:56with individuals and their partners,
53:58while a pregnancy is in progress.
54:02Other genetic counselors refer to
54:04themselves more broadly as reproductive
54:06genetic counselors because they
54:08are collectively working with.
54:10Individuals who are pregnant planning
54:13to become pregnant or interested
54:15in discussing concerns that arose
54:19during a previous pregnancy.
54:22And genetic counselors have filled
54:24an important role in supporting
54:27patients to make informed and value
54:30consistent reproductive decisions.
54:32Since prenatal screening and diagnostic
54:34testing were first possible.
54:39So in my specialty,
54:41some common reasons for referral include
54:44advanced maternal or paternal age,
54:48which generally means that someone
54:50is 35 years old of age or older
54:54at the time of delivery.
54:55If someone has a personal or
54:58family history of a known or
55:00suspected genetic condition,
55:02intellectual disability or
55:03congenital structural difference
55:05such as a congenital heart defect.
55:08Cleft lip or palate etc.
55:12There can be atypical fetal ultrasound
55:15findings or abnormal prenatal
55:18screening or diagnostic results.
55:21Concern about whether medications,
55:23drugs, alcohol,
55:25environmental exposures that occurred
55:27prior to or during pregnancy may
55:31impact fertility or fetal development.
55:34Pregnancy outcome.
55:36Someone might be a carrier
55:39for an inherited condition
55:40or chromosome rearrangement and would
55:42like to discuss what this means for
55:45their family planning and another common
55:49reason is history of recurrent pregnancy
55:53loss or subfertility and infertility.
55:56And one question that I wanted to
55:59ask everyone is what percentage of
56:03pregnancies that result in first
56:06trimester miscarriage are found
56:08to have a chromosome disorder,
56:10which means either extra or
56:13missing chromosome material.
56:16And this is ranging from the low
56:18end of being five to six percent,
56:2110 to 15 percent,
56:2225 to 30, or 50 to 55%.
56:29Oh, we're getting quite a
56:31range for our poll answers.
56:33We'll give it maybe 10 more seconds.
56:43All right, 321. And can you see that I can?
56:52Right, that's that's very interesting
56:55to see. So the correct answer.
57:00Would be 50 to 55%, which I know
57:04is shocking to a lot of people and
57:07this was something that was really
57:09flying under the radar years ago
57:11before there was testing available
57:14on DNA that we received from cells.
57:18From pregnancies that have miscarried.
57:22So I think you know one thing that
57:24we try to tell patients when a
57:27chromosome problem is identified
57:28during pregnancy is not necessarily
57:30something that makes them feel better.
57:33The fact that this is a common occurrence
57:36but can help them to feel that
57:38there's not something wrong with them,
57:40and that there's hope that they can go
57:43forward and have a successful pregnancy.
57:45Other common reasons for referral
57:47are individuals that are requiring
57:50assisted reproductive technologies
57:52to achieve pregnancy.
57:53Individuals who are donating eggs
57:55or sperm for these purposes.
57:58People who have multifetal pregnancies,
58:01including twins, triplets,
58:03quadruplets, and more.
58:05Those with specific ethnic or racial groups,
58:07or geographic areas with a higher
58:10incidence of certain genetic conditions
58:12who are interested in having genetic
58:14carrier screening for those conditions,
58:16and then just general interest
58:18in discussing test options that
58:21are available for individuals or
58:23their reproductive partners prior
58:25to or during pregnancy.
58:26So this can include things such as.
58:28Genetic carrier screening testing for
58:32chromosome conditions during pregnancy,
58:35etcetera.
58:38So as Alex had mentioned,
58:41some things that happened during a
58:44reproductive genetic counseling session
58:45are very common in other settings as well,
58:49but typically we are obtaining medical,
58:52reproductive and environmental
58:54exposure histories.
58:56Taking a family history depending
58:59on the reason for referral,
59:01we may go back multiple generations.
59:05Other times we may not have the time
59:07to allot to that and it may not be
59:10relevant to the reason for referral.
59:12So it may be a much smaller pedigree.
59:15We are explaining the risk for or the
59:18diagnosis of a genetic condition.
59:21Talk about inheritance recurrence risks,
59:24the benefits, limitations,
59:25and risks of test options that people have,
59:29prognosis management,
59:30current treatment options as well as
59:35prevention and current research options.
59:39We will interpret the results of this
59:41testing that they've elected to have.
59:43Discuss the implications for the
59:45current fetus and future pregnancies,
59:48and talk about next steps.
59:51We will talk to them about assisted
59:55reproductive technologies and we will
59:57also try our best to support them
59:59while they're making these decisions.
01:00:02And trying to, by the way,
01:00:05forgive the sound in the background.
01:00:06That's my dog growling.
01:00:11So we'll talk to them about decision making
01:00:14and try to take into account their personal,
01:00:17their religious,
01:00:18their ethical and moral values,
01:00:20et cetera.
01:00:21And I would say our biggest goal has to
01:00:25be establishing rapport with patients.
01:00:28The faster the better because we can't
01:00:30do the other things on this list.
01:00:33We can't achieve the other goals
01:00:35unless we have established rapport.
01:00:38We'll try to assess their needs,
01:00:40exchange and discuss relevant information
01:00:43that's specific to them and their situation.
01:00:46We will try to elicit their
01:00:49thoughts and feelings,
01:00:50support their autonomy
01:00:51and their decision making,
01:00:53and we provide short term psychosocial
01:00:57support and patient advocacy.
01:01:00And we know our limits as well,
01:01:02so that we identify situations
01:01:04where someone might need additional
01:01:07medical referrals or psychological
01:01:09referrals or support services.
01:01:11You know whether that includes
01:01:13referring them to actual support groups,
01:01:15individual counselors referring them
01:01:19out to other medical specialists?
01:01:22And we try to serve as an ongoing
01:01:25resource as their needs and their
01:01:28desires evolve over time.
01:01:30And I selected a case that actually
01:01:33took place several years ago,
01:01:35but I thought that it is a really good
01:01:37example of someone's how someone's
01:01:39needs and desires may evolve over time,
01:01:41and how we have to pivot with
01:01:44them along that journey.
01:01:47So for this particular patient,
01:01:49she was 40 years old and referred for
01:01:52genetic counseling at approximately
01:01:5412 weeks in pregnancy.
01:01:55Due to advanced maternal age.
01:01:58So.
01:01:59We know that this or we learn that
01:02:01this patient and her partner had one
01:02:04previous pregnancy that resulted in
01:02:07miscarriage at a that happened about
01:02:09six months prior to my meeting with them.
01:02:12And chromosome analysis that was
01:02:15performed on the products of conception
01:02:17from that pregnancy revealed that
01:02:20the fetus had a sporadic meaning,
01:02:22not inherited.
01:02:23Chromosome condition that is
01:02:25called trisomy 13.
01:02:29So you know just rapidly
01:02:31giving a little background.
01:02:32Individuals typically have 23 pairs
01:02:35of chromosomes for a total of 46.
01:02:38The 1st 22 pairs are numbered one
01:02:41through 22 and the 23rd pair are.
01:02:44Called the sex chromosomes,
01:02:46which are X&amp;Y chromosomes.
01:02:48Most females have two X chromosomes
01:02:52and most males have 1X and Y1Y
01:02:56chromosome and chromosome aneuploidy
01:02:57is a term that's given when there is
01:03:01an abnormal number of chromosomes.
01:03:03So for example there are 45
01:03:06or 47 instead of 46.
01:03:09Most of these chromosome conditions
01:03:10occur by chance as a result of an
01:03:13egg or a sperm cell that was created
01:03:15with an extra or missing chromosome.
01:03:17And as women get older,
01:03:19there is an increased chance to have
01:03:22a child with a chromosome abnormality.
01:03:26But I would like to point out
01:03:28that this risk is gradual.
01:03:30So for example, someone who is.
01:03:3420 years old has less than a one
01:03:36in 400 chance to have a child with
01:03:39a chromosome disorder and at the
01:03:42age of 38 it has gone up to 1%.
01:03:46But I would like to view that
01:03:48as a 99% chance that there would
01:03:50not be a chromosome condition.
01:03:53So trisomy 13 is considered one of
01:03:56the more severe chromosome disorders,
01:03:59and it can result in miscarriage or
01:04:02the birth of a child who has severe
01:04:07intellectual disability and medical
01:04:10concerns and physical abnormalities.
01:04:13Years ago,
01:04:14they used to think that this condition
01:04:17was universally fatal within the
01:04:19first weeks of life, but now with.
01:04:24Improved technology approximately 5 to
01:04:2710% of children with this condition
01:04:30can survive past the first year.
01:04:33I am going to skip ahead.
01:04:36To say that during the counseling
01:04:39session we were talking about how
01:04:42this usually occurs by chance.
01:04:44This patient was 40 years old,
01:04:47so we talked about that her chance
01:04:49of having another pregnancy with a
01:04:51chromosome problem was not felt to be
01:04:53significantly different than anyone else.
01:04:56Her age in the general population,
01:04:58which is in a 1 to 2% range and we
01:05:00offered her some screening tests that
01:05:03can assess risk for some of the more
01:05:05common chromosome conditions as well
01:05:08as diagnostic tests that permit us
01:05:10to actually look at the chromosomes.
01:05:13For the pregnancy under a microscope
01:05:16with over 99% accuracy and we
01:05:19talked about the benefits,
01:05:21limitations and risks of both
01:05:24of these diagnostic tests,
01:05:25including the one in 400 risk
01:05:28for miscarriage that these tests
01:05:31are associated with.
01:05:33So she expressed that although she
01:05:34would love to have the information
01:05:36that the diagnostic test can provide,
01:05:38she did not want to have a test
01:05:40that had a risk of miscarriage and
01:05:42elected to have cell free screening.
01:05:47So by the way, the details that I've
01:05:49provided on these slides are really for
01:05:51later when you're looking through them
01:05:53in case you needed some background to
01:05:55understand what we're talking about.
01:05:57But I am just going to kind of cut to the
01:06:01chase for what happened with this couple.
01:06:03It turned out that she was not able to get
01:06:06a result from the cell free DNA screening,
01:06:09and that by itself indicates that the
01:06:13pregnancy could be at increased risk
01:06:15for certain. Chromosome disorders.
01:06:18So we again offered her diagnostic testing
01:06:21and she elected to have an amniocentesis,
01:06:25and when she arrived on the day of the
01:06:28test prior to performing the AMNIO,
01:06:30ultrasound revealed that the fetus
01:06:34had a brain abnormality that is called
01:06:38semi lobar lobar holoprosencephaly.
01:06:41So the counseling session involved
01:06:44talking to the couple about what
01:06:48holoprosencephaly is talking to them
01:06:51about the different outcomes that
01:06:54can occur depending upon the extent
01:06:58to which the abnormality exists and
01:07:01we talked about that this condition
01:07:03is not always genetic,
01:07:04it can be caused because of environmental
01:07:08problems or exposures it can occur.
01:07:12Due to sporadic chromosomal or genetic
01:07:16conditions and it can be associated
01:07:19with some inherited conditions as well.
01:07:21They elected to proceed with
01:07:25the amniocentesis.
01:07:26And.
01:07:26The first thing that we found out is that the
01:07:29fetus had the correct number of chromosomes,
01:07:32which is 46.
01:07:33An additional test on that specimen
01:07:36revealed that there was no little pieces
01:07:39of chromosomes that are extra or missing,
01:07:42so that reduced the chance for over
01:07:46150 different genetic syndromes.
01:07:47Only a small group of which could be
01:07:52linked to holoprosencephaly and then,
01:07:54with the help of a laboratory
01:07:57genetic counselor,
01:07:58we were able to determine a panel of
01:08:01genes that would be appropriate to test.
01:08:05This fetus 4 these genes were all
01:08:08associated with holoprosencephaly
01:08:10and it revealed that the fetus had
01:08:13one copy of a pathogenic variant in a
01:08:16specific gene that was called zic 2.
01:08:18And this disorders in one copy of this
01:08:21gene are associated with the condition
01:08:25that's called holoprosencephaly type 5,
01:08:28and in this condition we commonly
01:08:32see semi lobar holoprosencephaly.
01:08:34So we felt quite confident that this
01:08:37variant was what caused the fetus to
01:08:39have holoprosencephaly and we each
01:08:41have two opportunities to have this
01:08:44gene working properly. If one is not.
01:08:48Then the person would be predicted to
01:08:51be at risk to have holoprosencephaly,
01:08:54but this gene is not fully penetrant,
01:08:56which means that some people with
01:08:59variants in this gene that are considered
01:09:02to be gene disrupting variants appear
01:09:05to have no symptoms or have such
01:09:09mild symptoms that they are never
01:09:12diagnosed as having this condition.
01:09:14So we recommended that the parents be tested.
01:09:17And it turned out that the
01:09:20partner had the same variant,
01:09:23and although we certainly did not have
01:09:26information regarding his brain MRI,
01:09:28outwardly he had no signs
01:09:32of having holoprosencephaly.
01:09:34They were informed that with each
01:09:37pregnancy there's a 50% chance
01:09:39that the fetus would inherit this
01:09:41pathogenic variant,
01:09:42but that not every fetus with the
01:09:45variant would have holoprosencephaly,
01:09:47and we also let them know that fetal
01:09:51ultrasound may not always show us
01:09:53that a fetus will have complications
01:09:56secondary to this variant.
01:09:59So we wanted to make sure they
01:10:01had the they were aware that
01:10:03they had the option of having.
01:10:05In vitro fertilization where the egg
01:10:07is fertilized outside of the body
01:10:10would then genetic testing on that
01:10:12pre embryo to see if it was affected.
01:10:15Or they could have targeted prenatal
01:10:17testing during pregnancy to see
01:10:19whether or not the fetus inherited
01:10:21the variant and they elected to
01:10:24conceive their third pregnancy via IVF.
01:10:27There was targeted prenatal excuse
01:10:29me preimplantation genetic testing
01:10:32for this variant.
01:10:33And they were able to have a successful
01:10:37transfer and implantation of what was
01:10:40predicted to be an unaffected embryo.
01:10:43They elected to have prenatal
01:10:44testing early in pregnancy at around
01:10:4811 weeks to confirm the accuracy
01:10:51and it confirmed the fetus was.
01:10:55Not carrying this variant and
01:10:57they delivered a healthy baby boy,
01:10:59so this was really a very long haul
01:11:03for this couple to have a baby.
01:11:05It was over five years.
01:11:09But it was certainly a wonderful outcome.
01:11:12So in my last couple of slides I
01:11:15wanted to say that you know pregnancy
01:11:17can be a lot of things that can
01:11:19be planned and unplanned, desired,
01:11:21not desired,
01:11:23can be wonderful and exciting scary.
01:11:27Anxiety provoking etc.
01:11:28The list could go on and on and
01:11:32reproductive genetic counselors
01:11:34have both the responsibility and
01:11:37the privilege of educating,
01:11:39supporting and working with individuals
01:11:41who are faced with making really
01:11:44difficult decisions both prior to
01:11:47pregnancy and during pregnancy and
01:11:49working with this patient population,
01:11:51I can say has been extremely
01:11:55rewarding and challenging.
01:11:57And I have stayed consistent as
01:11:59a genetic counselor who does
01:12:01reproductive genetic counseling from
01:12:03the beginning and it's something
01:12:06that forces me to consistently be
01:12:09learning every step of the way.
01:12:13So sorry, I know I ran over by a few minutes.
01:12:16That's alright.
01:12:17That was a great a great talk as
01:12:20always and I wanted to maybe pose a
01:12:23question to you before we hop over to
01:12:25Sarah's talk about cardio genetics.
01:12:27Someone had asked about carrier
01:12:30testing specifically and whether
01:12:32that's doing mostly sequencing
01:12:34of the genome or are there other
01:12:36ways to test for a carrier?
01:12:38Could you just maybe expand
01:12:39upon that a little bit?
01:12:43I would say. The majority of genetic
01:12:46care carriers testing is being
01:12:49done through gene sequencing.
01:12:52Although for some of the more common
01:12:55genetic conditions that someone can
01:12:57be a carrier for other technology
01:12:59is actually better for identifying
01:13:02carriers than gene sequencing,
01:13:04so you know that is part
01:13:07of our responsibility is.
01:13:10Knowing what screening is appropriate
01:13:13for someone in general and how we might
01:13:16modify that based on personal history
01:13:19or family history or ethnicity so.
01:13:23There's not one straight answer, but yeah,
01:13:26overall gene sequencing is our go to
01:13:28for the vast majority of conditions.
01:13:32Great.
01:13:34Thank you again and we'll certainly
01:13:37tab back during the general Q&amp;A,
01:13:40but let me see if I can get Sarah
01:13:43up and running. There we go, there
01:13:46we go. Yep, right there. OK, so let me just.
01:14:01OK, there we go.
01:14:04So high everyone as Alex said,
01:14:06my name is Sarah and I am a
01:14:09genetic counselor at Yale,
01:14:11New Haven Hospital, who specifically
01:14:14works in a cardiovascular genetics.
01:14:18So first you know just a little bit about me.
01:14:22I am originally a jersey girl and
01:14:24from New Jersey I did my undergrad
01:14:27at Montclair State in New Jersey and
01:14:29then after two years I went back to
01:14:32grad school and I did the genetic
01:14:35counseling masters program at Rutgers,
01:14:39which is a relatively newer program.
01:14:42Which was, you know,
01:14:43interesting to be a part of it.
01:14:44A new program.
01:14:48So I graduated from Rutgers in 2020,
01:14:51so working at Yale similar to some
01:14:54of the other presenters has been my
01:14:56first and only job since graduating,
01:14:59so they must have, you know,
01:15:00good retention here, which is Nice.
01:15:03So I work more specifically in the
01:15:06heart and Vascular Center within
01:15:08the Yale New Haven Health System and
01:15:11to get more specifically than that
01:15:14I'm in the congestive heart failure
01:15:17program as well as the inherited
01:15:21hypertrophic cardiomyopathy program.
01:15:23That's the program that my role
01:15:26is specifically built into,
01:15:27although I do see a lot of other
01:15:30indications outside of just HCM.
01:15:34So yeah,
01:15:35we do have an HCM that's called
01:15:37the center of Excellence,
01:15:40meaning that we have a clinic here that is,
01:15:44you know,
01:15:45essentially a designated by the
01:15:47Hypertrophic Cardiomyopathy Association
01:15:49as being a multidisciplinary
01:15:51Center for patients.
01:15:52With this condition,
01:15:53you know,
01:15:54including services such as genetic
01:15:56counseling and assistance with
01:15:58testing and family screening.
01:16:03OK so first just to kind of give
01:16:06an overview of what my role is
01:16:08like in the world of cardiology.
01:16:11Firstly, the people that I work with
01:16:13there is another genetic counselor
01:16:15who specializes in cardiovascular
01:16:17genetics and if you attended this talk,
01:16:20you know a year or two years ago.
01:16:22I believe Arpita was the one, you know,
01:16:25giving the talk about cardiac genetics.
01:16:27So if you were here at the year or two years
01:16:29ago you might remember some things from her.
01:16:32Call per and I have a pretty
01:16:35similar roles that overlap a lot,
01:16:37but aren't entirely the same.
01:16:40So I work with a lot of
01:16:43different cardiologists.
01:16:44Actually, some cardiologists who
01:16:46are just general cardiologists and
01:16:49then also specialty cardiologists,
01:16:51including electrophysiologists,
01:16:53so doctors who work with us,
01:16:56you know,
01:16:57problems with the hearts electrical
01:16:59system specialists in cardiomyopathies,
01:17:02you know,
01:17:03there are a lot of different types of
01:17:06genetic cardiomyopathies that all kind
01:17:08of briefly go over later and then.
01:17:10Finally,
01:17:10sometimes we work with cardiologists
01:17:12who specialize in treating patients
01:17:14with advanced heart failures.
01:17:18Additionally,
01:17:18you know we do work with admins when it
01:17:21comes to you know how we schedule patients,
01:17:24how we build out our schedules.
01:17:26You know some programmatic
01:17:28concerns and things like that.
01:17:30You know there is a lot of
01:17:33collaboration with laboratory staff.
01:17:34Both.
01:17:35You know here at like the
01:17:37Yale DNA lab or you know,
01:17:39in some external genetics labs,
01:17:42you know we send some tests kind of
01:17:45through the L DNA lab as well as some.
01:17:47Uh,
01:17:48larger like commercial outside genetics labs.
01:17:51You know often just depends
01:17:53on things like insurance,
01:17:54turnaround time, things like that.
01:17:57And then finally I do work
01:17:59with some other research staff.
01:18:01There are a couple of research projects
01:18:04that I'm a little bit involved in,
01:18:06so I often work with, you, know,
01:18:09various researchers as well.
01:18:11And then I think a lot of people
01:18:14question how patients actually
01:18:15get to see a genetic counselor.
01:18:18So many of our patients will get
01:18:20referred to us, maybe through their PCP.
01:18:23For example,
01:18:24if their General practitioner happened
01:18:26to notice something like a cardiac
01:18:28murmur during a regular evaluation,
01:18:30that's something that might
01:18:31prompt further cardiac workup and
01:18:34potentially some genetic testing.
01:18:35These patients might get
01:18:37referred by a cardiologist.
01:18:38If they're already seeing one for something.
01:18:41Like high blood pressure,
01:18:43you know,
01:18:45high cholesterol if they identify
01:18:47some other problem that needs more
01:18:49specialized testing and discussion,
01:18:52they might refer to to our specialty group.
01:18:56Some patients do self refer.
01:18:59We do get some self referrals.
01:19:00You know if you Google scale
01:19:03cardiology genetic testing,
01:19:04you know you'll come to our page
01:19:07and some patients contact us
01:19:09that way also through the NSGC
01:19:11find a genetic counselor tool.
01:19:14There have been a handful of patients who
01:19:17have utilized that to reach out to us.
01:19:19You know,
01:19:20if they feel that there may be a need
01:19:23for genetic testing within their families.
01:19:25Additionally, you know we do a lot
01:19:28of predictive testing for family
01:19:31members when the pro band tests
01:19:33positive for a genetic mutation,
01:19:36so a lot of our patients do come
01:19:38to us because they're related to
01:19:40someone else that I saw previously
01:19:43and provided testing for.
01:19:45And finally we do do some cross
01:19:47referring here between the different
01:19:50genetic counseling specialties.
01:19:51For example,
01:19:52a cancer genetic counselor might uncover a.
01:19:55Family history of cardiomyopathy
01:19:57or an arrhythmia?
01:19:59Something like that,
01:20:00and recommend that a patient
01:20:01sees you know a cardiac genetic
01:20:04counselor for more specialized
01:20:05testing and then vice versa.
01:20:07You know,
01:20:08we often find family history
01:20:09of something such as a cancer
01:20:11syndrome where they refer to
01:20:14another genetic counselor in a
01:20:16different specialty so we do have
01:20:18some collaboration here between
01:20:19all the all the disciplines.
01:20:23So and a question, I do get a lot
01:20:25from prospective students is just
01:20:27what does your week look like?
01:20:29You know, like what's an average kind of
01:20:32week in the life for you as a cardiac GC.
01:20:34So obviously a large kind of
01:20:37chunk of my time gets taken up by
01:20:41the genetic counseling consults.
01:20:43And as mentioned earlier,
01:20:45we do have, you know,
01:20:48kind of different ways we do the consoles.
01:20:50Currently we are doing a
01:20:51lot of virtual phone visits.
01:20:53Patients since the COVID pandemic,
01:20:56and then occasionally we do also
01:20:58have in person, consults with a
01:21:01cardiologist in the clinic potentially.
01:21:04In addition to that,
01:21:05you know a lot of my time taken
01:21:08up by charting.
01:21:08You know, putting in the visit nose,
01:21:11placing in the orders for genetic testing,
01:21:14and then of course everything you
01:21:15send to the lab will come back to you.
01:21:18So a lot of time is taken up
01:21:21by reviewing patient results,
01:21:23and then of course,
01:21:24calling those out and discussing
01:21:26those with the patient and their
01:21:28families to make sure that we
01:21:30have a plan for their management.
01:21:32We have a weekly cardiovascular
01:21:34genetics case conference with I
01:21:37and the other genetic counselor
01:21:39and a group of cardiologists where
01:21:42we discuss you know interesting
01:21:44or difficult cases.
01:21:45And then finally on Fridays I am
01:21:48always doing case Prep for Mondays
01:21:50so you can go and just start
01:21:53the cycle all over again.
01:21:55And then outside of kind of the more
01:21:58typical you know GC duties like I mentioned,
01:22:02I do have some some research duties as well.
01:22:06I've helped out with a couple
01:22:08projects here and there.
01:22:09I have had the opportunity to supervise
01:22:12some students which I love doing.
01:22:15I've had some students shadow with me,
01:22:17which was, you know,
01:22:18a great opportunity for someone who
01:22:20is not even too far out of school.
01:22:22Myself, you know, we do have.
01:22:25Within Yale,
01:22:26multidisciplinary genetic counseling
01:22:28conferences and addition to that,
01:22:31the National Society of Genetic
01:22:33Counselors has a yearly conference,
01:22:36so occasionally I may be working
01:22:38on a poster for that conference.
01:22:41We we did mention special interest groups.
01:22:43Earlier there is a cardiac
01:22:45special interest group.
01:22:46I am not personally super involved in it,
01:22:49but it's a great resource which
01:22:51is something I really wanted
01:22:52to include on this slide.
01:22:56Like I mentioned,
01:22:57a lot of our consoles are virtual,
01:22:58but we do also have inpatient consults.
01:23:01Sometimes with the patient in the
01:23:04cardiac intensive care unit we might go.
01:23:07You know, we might be asked to go
01:23:09see them and speak with them about
01:23:11potentially doing genetic testing.
01:23:12And finally, you know occasionally
01:23:14I might have meetings with more,
01:23:17so with outside labs staff to discuss.
01:23:20You know, maybe new new testing panels
01:23:22that they are piloting and things like.
01:23:26OK, so we'll just give kind of
01:23:28a brief overview of some of the
01:23:31most common conditions that I see.
01:23:33So first of all, of course we
01:23:36have hypertrophic cardiomyopathy.
01:23:37It's really kind of my bread and butter.
01:23:40I see a lot of this condition.
01:23:43Essentially it happens when the the muscular
01:23:45walls of the heart become too thick,
01:23:48often because of, you know,
01:23:50a genetic mutation that someone carries.
01:23:52It's actually a relatively common condition.
01:23:56Probably about one in every 250 people may
01:23:59have this condition according to you know,
01:24:02most recent estimates and then
01:24:04having this thickness this abnormal
01:24:07thickness in the heart muscle can
01:24:09cause a couple of different problems,
01:24:11including something that's
01:24:13called diastolic dysfunction,
01:24:15which means that the heart can't relax
01:24:17properly to fill with enough blood.
01:24:19So sometimes there's trouble with
01:24:21blood getting to the rest of the body.
01:24:23It can increase the risk for A-fib.
01:24:26In turn, increases the risk for stroke.
01:24:29And sometimes you know part of an HCM
01:24:33workup may involve differentiating what
01:24:36we call true genetic HTM from other
01:24:40conditions that can mimic genetic HCM.
01:24:43You know these are things such
01:24:45as hypertensive heart disease,
01:24:47something called athletes heart,
01:24:49which can happen when someone
01:24:51undergoes intense athletic training.
01:24:53For many years.
01:24:54It can kind of remodel the structure
01:24:56of the heart and make it thicker.
01:24:59And often you know the types of
01:25:02HCM that we see are just isolated,
01:25:05but they can be present in in different
01:25:09syndromes as well as part of something.
01:25:11For example,
01:25:12Noonan syndrome,
01:25:12HCM is just one feature of that condition,
01:25:15but it may present with other
01:25:18findings as well.
01:25:19So in contrast to
01:25:21hypertrophic cardiomyopathy,
01:25:22we have dilated cardiomyopathy,
01:25:24as you can see in this
01:25:26type of cardiomyopathy.
01:25:28The walls of the heart are kind
01:25:30of stretched down and thinner,
01:25:31so it makes it difficult for the heart
01:25:33to pump blood to the rest of the body.
01:25:37There is a risk of developing arrhythmias
01:25:40or other problems in the electrical
01:25:42system of the heart or risk of
01:25:45progression to end stage heart failure.
01:25:48Some of the genes.
01:25:50That cause DCM may also present
01:25:52with muscular disease as well,
01:25:54so that's something that we
01:25:56also may want to pay attention
01:25:58to and additionally we do get
01:26:00some referrals for patients who
01:26:02have postpartum cardiomyopathy,
01:26:04often from a provider who's kind
01:26:08of an expert in cardio obstetrics.
01:26:11And it's been found that about 15%
01:26:14of women who develop a postpartum
01:26:17or peripartum cardiomyopathy will.
01:26:19Actually carry a pathogenic mutation
01:26:22for a dilated cardiomyopathy.
01:26:27OK, and then there's also something
01:26:30called arrhythmogenic cardiomyopathy,
01:26:31which has the name implies comes with an
01:26:34increased risk of ventricular arrhythmias.
01:26:37Given this sort of.
01:26:40Fibrofatty and scar tissue replacement
01:26:43of these normal healthy cells in the
01:26:45heart because of the gene mutation
01:26:47that someone may carry and this is
01:26:50an interesting condition because
01:26:52exercise can actually make it worse.
01:26:55So these patients are often told to
01:26:58moderate their exercise and try,
01:27:01you know, more low impact things like
01:27:03walking or yoga as opposed to you know,
01:27:05high intense athletics and then
01:27:07this is just kind of a quick.
01:27:10Overview of how cardiomyopathies may be,
01:27:14you know, diagnosed.
01:27:15You know there's often a lot of imaging done.
01:27:19Genetic testing. Obviously blood work.
01:27:22Sometimes patients may present with
01:27:24symptoms such as shortness of breath,
01:27:27chest pain, or heart palpitations,
01:27:29and sometimes people may have
01:27:31no symptoms at all,
01:27:32just those changes inside the heart.
01:27:35There are many different genes
01:27:38that can cause these problems.
01:27:40Some of them may only cause one specific
01:27:43type of cardiomyopathy and some can
01:27:46cause multiple different types.
01:27:48Most of the inheritance patterns that
01:27:50we tend to see with these conditions
01:27:52is mostly autosomal dominant,
01:27:54but there can be some other
01:27:56inheritance patterns as well.
01:27:58And finally,
01:27:59these conditions are
01:28:01managed through medications,
01:28:02lifestyle changes, sometimes devices,
01:28:05surgery and then of course family
01:28:08screening is an important part of
01:28:11you know the management process.
01:28:13If an individual in the family is
01:28:15identified to carry a pathogenic mutation.
01:28:18We will discuss the option of
01:28:20genetic testing for that patients
01:28:22family members who may be at risk
01:28:25to also develop the condition.
01:28:27And then just briefly like I mentioned,
01:28:29we also see you know some
01:28:32inherited arrhythmias.
01:28:33We work with electrophysiologists
01:28:35for genetic testing.
01:28:37For these patients,
01:28:38two of the most common ones that you
01:28:41may have heard of include Brugada
01:28:43syndrome and long QT syndrome.
01:28:46In essence,
01:28:47these are EKG changes that may increase
01:28:51the risk of a dangerous heart arrhythmia.
01:28:55So it's something that has to be
01:28:58managed often with medications or
01:29:01also avoiding any triggers that
01:29:04can additionally cause these these
01:29:07arrhythmias to appear.
01:29:10And then just a few more just
01:29:13kind of round out these slides.
01:29:15Sometimes we see patients
01:29:17for inherited aneurysms,
01:29:19which is essentially a bulging of
01:29:21the blood vessel that you see here.
01:29:24This is also something that can
01:29:26present as an isolated condition or
01:29:29can be syndromic presenting with other
01:29:31features of a connective tissue disease.
01:29:35Another clinic that I work
01:29:37in is an amyloidosis clinic.
01:29:39This is a condition that I
01:29:41had never heard of myself.
01:29:43You know, really,
01:29:44until I started to get into cardiac genetics,
01:29:47essentially it is this protein from the
01:29:50gene called TR that becomes misfolded
01:29:53and clumps up in different organs.
01:29:56Primarily can cause heart failure neuropathy,
01:29:58but can also cause some kind of other
01:30:01unusual features such as carpal
01:30:03tunnel syndrome and gastrointestinal.
01:30:05Problems.
01:30:05It's a really underrecognized
01:30:08condition definitely,
01:30:10so I kind of take every chance I
01:30:12get to spread awareness about it.
01:30:15And then finally we see a lot
01:30:19of dyslipidemias.
01:30:20One example of that is something that's
01:30:23called familial hypercholesterolemia.
01:30:25Essentially,
01:30:25it's you know a problem that causes an
01:30:29increased amount of LDL cholesterol,
01:30:32which is the bad cholesterol in the blood.
01:30:36And you know,
01:30:37exposure to these high levels of
01:30:39cholesterol overtime can increase
01:30:41the risk for heart disease and
01:30:44other cardiovascular complications.
01:30:46It can depend on the severity.
01:30:48If someone has one mutation or two mutations,
01:30:52and it is actually a condition
01:30:54that is pretty easily managed,
01:30:57these patients are encouraged
01:30:59to take statins,
01:31:00which is a medication that helps
01:31:02to lower the bad cholesterol
01:31:04in the blood and then also.
01:31:06Modify their lifestyle.
01:31:07You know proper diet and exercise
01:31:09to help decrease the risk
01:31:11of developing heart disease.
01:31:15OK so I won't, you know,
01:31:17belabor this slide too much because I
01:31:19think we already kind of know the basic
01:31:21components of a genetic counseling physic,
01:31:23because it tends to be, you know,
01:31:25fairly consistent between all the
01:31:27specialties, but something interesting
01:31:28that I've had come up in this
01:31:30setting is this question right here?
01:31:33Can you tell me what
01:31:34I've been diagnosed with?
01:31:35And I can't tell you how many
01:31:37times I have gotten this question.
01:31:39You know, from patients who
01:31:41recently were diagnosed with,
01:31:42for example, a cardiomyopathy.
01:31:43And they just have no idea what
01:31:46they've been diagnosed with.
01:31:47They're very confused,
01:31:48and they're very nervous about,
01:31:50you know the potential to say,
01:31:53pass it down to their children.
01:31:55So a big portion of the visit is me often
01:31:58explaining to the patient what they have,
01:32:01you know, and explaining kind of
01:32:03the basic genetics concepts of it,
01:32:05as well as the inheritance.
01:32:08And then of course we want to work
01:32:10out you know what test is best?
01:32:13Should we order single gene?
01:32:14Should we order a panel?
01:32:15Should we order flexim sequencing?
01:32:18That's a big part of the conversation.
01:32:20And then finally,
01:32:22insurance concerns, you know,
01:32:24is something that's probably,
01:32:26you know, an issue for anyone in any
01:32:28specialty of genetic counseling.
01:32:30Patients are often concerned
01:32:32about things like cost,
01:32:33and you know,
01:32:34can these results be used against me?
01:32:37Will I have any any privacy
01:32:38with my genetic results?
01:32:39So that's also something
01:32:41that we discussed with them.
01:32:44And then these are some concerns that are,
01:32:47you know,
01:32:47kind of come up often in
01:32:49cardiac genetic counseling.
01:32:50They may happen in other specialties as well,
01:32:52but this is just, you know,
01:32:53in the past two years here what I've noticed.
01:32:57Can be concerning for patients and
01:32:59one of these things is having a family
01:33:02history of sudden cardiac death,
01:33:03which is something that can potentially
01:33:06indicate that there is a gene causing
01:33:09arrhythmias in someone's family.
01:33:10So obviously you can expect that
01:33:13there is a psychological impact for
01:33:16the patients remaining relatives if
01:33:18they're seemingly healthy family
01:33:21members suddenly died of an arrhythmia,
01:33:23so that's something that you know.
01:33:26I think a lot of my tough cases
01:33:28were these cases where there was a
01:33:30family history of just Sun death,
01:33:32with no apparent precipitating factors.
01:33:35In addition to that,
01:33:37something that comes up a lot
01:33:38in cardiology is uncertain.
01:33:40Findings on genetic tests.
01:33:42You know,
01:33:43people may be aware that sometimes
01:33:45when we get genetic tests back,
01:33:47the results aren't always clear cut.
01:33:48Sometimes we aren't sure if the
01:33:50genetic change is actually causative
01:33:52of a disease and this makes it you
01:33:55know a little tricky to figure out.
01:33:57How do we best screen the family for
01:33:59this condition? Are they at risk?
01:34:01And also how do we communicate this
01:34:04uncertainty to the patients themselves?
01:34:06So the patient doesn't feel overwhelmed.
01:34:10And then a type of testing that comes
01:34:13up occasionally in cardiovascular
01:34:15genetics is post mortem testing.
01:34:18You know, often in these cases of a
01:34:21family history of sudden death they may
01:34:23pursue what's called a molecular autopsy,
01:34:26which is genetic testing on the deceased
01:34:28to help check and see if there's any
01:34:31potential mutations we can identify
01:34:32and can kind of help us figure out why
01:34:35did this person passed away suddenly,
01:34:37and you know what is the what
01:34:38is the risk to the remaining?
01:34:40Family members should the remaining
01:34:42family members consider something
01:34:44such as getting a defibrillator,
01:34:45for example, to protect them
01:34:47from any dangerous heart rhythm.
01:34:51So super quick. This is just kind of
01:34:53an example pedigree of a patient that
01:34:55I had seen and it was interesting,
01:34:58not specifically because of
01:34:59the cardiac genetics of it,
01:35:01but kind of for some other factors.
01:35:04You can see all these all these
01:35:07yellow sections here indicate patients
01:35:09affected with the condition called HT.
01:35:12Essentially it causes abnormal
01:35:14blood vessel formations in the body.
01:35:17It can cause problems with
01:35:19bleeding however these.
01:35:20Individuals here also had a dilated
01:35:24cardiomyopathy and their deceased brother
01:35:26was thought to have heart failure,
01:35:29and in rare cases,
01:35:32HT can cause basically a
01:35:35certain type of heart failure.
01:35:37But looking at all these cases
01:35:40of dilated cardiomyopathy and
01:35:41another relative on this side,
01:35:44who is thought to have some
01:35:45type of heart issues,
01:35:47we were having a discussion about,
01:35:49you know, is it possible that there are?
01:35:50Actually,
01:35:51two different genetic conditions
01:35:53running in this family.
01:35:54Or are these heart problems just
01:35:57related to the HT and these
01:35:59patients are just happening to
01:36:01have some rare complications,
01:36:03so this was an interesting case,
01:36:05not even because of the genetics so much,
01:36:08but because of,
01:36:09you know,
01:36:09this patient had already gone through
01:36:11all this counseling and testing
01:36:13for this other condition and now
01:36:14we were coming in and talking to
01:36:16him about the potential there being
01:36:18a second condition in the family.
01:36:20You know he had.
01:36:21Already known that his children
01:36:23didn't inherit the HHD from him,
01:36:25but now we had new concerns about,
01:36:28you know,
01:36:29the potential of dilated cardiomyopathy
01:36:31gene running through the family as well.
01:36:34So this was just kind of an interesting case.
01:36:36Kind of, you know,
01:36:38some interesting psychosocial
01:36:39aspects of this as well.
01:36:42OK,
01:36:42and that's it,
01:36:43I think I'm a little we're we're
01:36:45a little behind the Times Now,
01:36:47so maybe I will stop sharing and
01:36:49maybe won't take any questions
01:36:51at this time and come back for
01:36:53questions at the end.
01:36:54And of course, here is my email address.
01:36:57If anyone has any interest in
01:36:59cardiovascular genetics, please email me.
01:37:01I love answering prospective
01:37:03student questions.
01:37:06Thanks, Sarah, just quickly
01:37:08we did get a question about
01:37:12shadowing and we're not currently
01:37:14able to accommodate shadowing
01:37:16requests at this time. Is that right?
01:37:19Yeah, so it, it depends if it's
01:37:22someone already in a program or if
01:37:25it's someone who is not in a program.
01:37:27At this point it is a little bit
01:37:31more more difficult just because
01:37:33of the regulations between like
01:37:35the hospital and the university.
01:37:37But if someone has specific questions
01:37:40about wanting, you know information
01:37:42about potentially shadowing here,
01:37:43I would encourage them to reach out to me.
01:37:45Just because there may be some more
01:37:47specific information that I could give. OK,
01:37:51perfect thank you. So I am going
01:37:56to try to share my screen again.
01:37:59Give me one second I'm going to.
01:38:05Share screen.
01:38:11And this is going to be for our pediatric.
01:38:15Slash General genetics clinic.
01:38:18Emily Chen, who spoke to us last year
01:38:22and wasn't able to be here today,
01:38:24but she wanted me.
01:38:27She wanted me to share her talk for her,
01:38:30so let's get that going.
01:38:34Please let me know if you can't
01:38:36see and or hear it, but here we go.
01:38:41Hi everyone, my
01:38:42name's Emily and I'm a genetic
01:38:44counselor here at Yale, working
01:38:45under the General Genetics Clinic.
01:38:48I'm here to talk today a little bit
01:38:50about pediatric and general genetics.
01:38:56So to start off with, I'll
01:38:58go over a brief biography,
01:39:00so I actually graduated from UConn
01:39:03to the University of Connecticut,
01:39:05and I studied psychology and
01:39:07molecular and cell biology there.
01:39:10Afterwards I went to the
01:39:12University of California, Irvine,
01:39:13where I did my masters in genetic
01:39:16counseling and the first job I took
01:39:19out of grad school was at Veritas.
01:39:21It was a genetic testing startup company.
01:39:25That was performing whole genome
01:39:27sequencing and headed for healthy
01:39:29individuals who wanted to just
01:39:31learn about their disease risk.
01:39:33And then from there,
01:39:34after about 3 1/2 years at Veritas.
01:39:36I since then been here at Yale working
01:39:39in the general Genetics clinic
01:39:41for the past 2 1/2 years or so.
01:39:44So what exactly is general Genetics?
01:39:47While it can be split into
01:39:49Pediatrics and adult genetics,
01:39:51and that's mainly based on depending
01:39:53if the hospital you work at has a
01:39:56separate Children's Hospital or not.
01:39:57If it does,
01:39:58then you might be only seeing
01:40:00pediatric patients here at Yale.
01:40:02We don't have a separate Children's Hospital,
01:40:04it's all just under young New Haven,
01:40:06so that's why our clinic
01:40:08is called General Genetics,
01:40:09which you might sometimes see
01:40:11interchangeably with adulterants clinics.
01:40:14But the key piece about.
01:40:15Our clinic is that we don't specialize
01:40:19in a specific disease group or specific
01:40:22type of disease or indication.
01:40:24We really just see everything under the sun,
01:40:27so that includes cancer,
01:40:29cardio,
01:40:29and anything else that you might
01:40:31hear about today.
01:40:34So some of the common reasons
01:40:36for someone who might need to see
01:40:39general Genetics is can are listed here.
01:40:42Mainly people are referred to
01:40:44us when they're trying to better
01:40:45understand if there's a genetic
01:40:47reason or genetic etiology for why
01:40:50they're experiencing their symptoms,
01:40:51or some kind of diagnosis that might
01:40:54tie multiple symptoms together,
01:40:55but there are other physicians
01:40:57haven't been able to figure out.
01:40:59A lot of times you might hear about
01:41:01medical mysteries or diagnostic
01:41:03odysseys that's often found in
01:41:05the general genetics clinic.
01:41:07We are trying to solve a lot of these cases.
01:41:10Some of my patients are over 40
01:41:12years old and they have significant
01:41:15symptoms that they've just, you know,
01:41:17lived their entire life with,
01:41:18and doctors haven't been able to
01:41:20figure out before they finally
01:41:21come to the genetics clinic,
01:41:23we're able to possibly give them
01:41:26the diagnosis in some cases.
01:41:28So I've listed some of these
01:41:30common indications here,
01:41:31so we see a lot of kids who have
01:41:34developmental delay or intellectual
01:41:36disabilities or autism spectrum disorder.
01:41:38Also see adults with these
01:41:40indications as well.
01:41:41We see people who have skeletal dysplasias,
01:41:44which means a problem with the bones.
01:41:46Sometimes they can be very fragile,
01:41:48sometimes they can be too hard and
01:41:51sometimes individuals can be short,
01:41:55or they might have just proportionate bones
01:41:57or other types of problems with their bones.
01:42:00We also see people who were born
01:42:01with what we call brick defects,
01:42:04so it can be a problem with their
01:42:06heart or a cleft lip or palate,
01:42:08or they can have extra fingers or
01:42:10toes or fused fingers and toes or
01:42:13defects just refers to anything
01:42:15that someone may be born with.
01:42:17In addition to people who have seizures,
01:42:20they might be referred to us to see if
01:42:22there's a genetic cause for the seizures,
01:42:24and if so,
01:42:25sometimes there's a better
01:42:28treatment option for them.
01:42:29We also see individuals with what
01:42:31we call metabolic conditions,
01:42:33so those conditions are typically
01:42:35found on newborn screening,
01:42:38where baby has a heel prick and
01:42:40they're tested for these disorders.
01:42:42There are other metabolic
01:42:43conditions that aren't necessarily
01:42:44covered in newborn screening.
01:42:46Essentially,
01:42:47these are the types of conditions
01:42:49that sometimes can be treated
01:42:51with a diet adjustment and
01:42:53special formula added to there,
01:42:55and that's kind of how we treat those.
01:42:58Some of those conditions.
01:43:00Uh,
01:43:00we also see patients who have muscular
01:43:03weakness or atrophy in addition
01:43:05to connective tissue disorders of
01:43:07people who might have very stretchy
01:43:09skin in addition to you know,
01:43:11family history of strokes or aneurysms,
01:43:13for example.
01:43:15So you can see that we see a
01:43:16lot of complex conditions that
01:43:19might affect multiple systems.
01:43:21And I listed one example here.
01:43:24So one condition called Stickler
01:43:26syndrome patients can have
01:43:28hearing loss. They can have a cleft palette,
01:43:30which means the palette on the top part of
01:43:33the mouth inside didn't close completely
01:43:36when forming mitral valve prolapse,
01:43:38which is a problem with the heart vision loss
01:43:41due to retinal detachments and the retinas.
01:43:44The back layer of the eye that you know
01:43:47takes in the light and sends the signals
01:43:49to the brain to process of your retinal.
01:43:52Tap retinal retinal tissue detaches.
01:43:55Then it can definitely result in
01:43:57vision loss and sometimes it can be
01:44:00reattached with surgery and then these
01:44:02individual can also have bone and joint
01:44:05problems even within the same family.
01:44:07Some people might have one symptom.
01:44:08Some people might not have any
01:44:10symptoms of Stickler syndrome,
01:44:12or they're very mild and hard to pick up,
01:44:15so you can it.
01:44:16It can present very differently,
01:44:18but if we do diagnose
01:44:21someone stickers syndrome.
01:44:22You wanna check all of those
01:44:24different organ systems and make
01:44:25sure they're working OK and check
01:44:26them overtime to make sure they
01:44:28don't develop hearing loss later,
01:44:29or develop the vision loss due
01:44:32to the retinal detachment later.
01:44:34So usually after we find a diagnosis
01:44:36with diagnosis for someone,
01:44:38we have to coordinate their care.
01:44:40That includes helping testing
01:44:41any other relatives or providing
01:44:43recommendations for the condition.
01:44:44In some rare cases we actually might be
01:44:47able to direct them to curative treatment,
01:44:49whether it be an enzyme replacement
01:44:52therapy or you know some kind of
01:44:54gene therapy that might be available.
01:44:56So that's not common,
01:44:58but it's becoming more more well
01:45:01more studied and more medications.
01:45:04They're starting to come
01:45:06out so definitely a hot
01:45:08area right now.
01:45:11The team members
01:45:12that you'll probably be working with
01:45:15overall include administrative staff.
01:45:17You may be. If you're lucky,
01:45:19you might have a genetic
01:45:20counseling assistant as well,
01:45:21or a nurse coordinator.
01:45:22Those individuals can have
01:45:24additional training in in medicine,
01:45:27so they might be able to discuss
01:45:30negative results or may be able to.
01:45:32You know, determine whether
01:45:33additional records are needed for
01:45:35a visit before the patient comes
01:45:37to see us or gather family history
01:45:40information beforehand as well.
01:45:42You may work with a social worker who
01:45:44you know provides that additional
01:45:46psychosocial support or identifies
01:45:48resources for families that might not
01:45:50necessarily be specific to traumatics.
01:45:53The genetic counselor is probably a
01:45:55little bit better suited to searching
01:45:57for what kind of advocacy groups are
01:45:59appropriate based on a diagnosis,
01:46:00but in terms of you know,
01:46:02daily types of difficulties that
01:46:04families might be going through.
01:46:06For example,
01:46:06if they're looking for disability services,
01:46:09a social worker might be better well.
01:46:11Equipped to identify those for the families.
01:46:15Metabolic dietitian if you
01:46:17see metabolic patients.
01:46:18They're registered dietitians who
01:46:20have specialized training for these
01:46:23taking care of these patients.
01:46:25You may work with nurse practitioners
01:46:27or physician PA physician assistants,
01:46:29so these are advanced practice
01:46:31providers that typically have
01:46:33some additional genetics training,
01:46:35usually on the job training.
01:46:37So after some time they may, you know,
01:46:40specialize in certain type of disorder.
01:46:42It just depends where you work.
01:46:43And then there's also the medical.
01:46:45Genesis,
01:46:46which is a key part of the general
01:46:49genetics team,
01:46:50so that is a physician who will
01:46:52be seeing the patients,
01:46:54and they typically have already
01:46:56done a residency in Pediatrics or
01:46:58internal medicine and then they do
01:47:00an additional residency in genetics.
01:47:03You might hear a called a fellowship or
01:47:05residency basically mean the same thing.
01:47:10So what's the role of a genetic
01:47:11counselor during these visits?
01:47:12Then we helped elicit the patients concerns.
01:47:17Excuse me excuse me, we also gather
01:47:21their medical and family history
01:47:23if it hasn't already been done.
01:47:25If it has already been done,
01:47:26we'll probably go over it again and make
01:47:28sure there's nothing else that we're missing.
01:47:30A physical exam that's usually
01:47:32done by that advanced practice
01:47:34provider or medical geneticist.
01:47:36We also review the benefits, risks,
01:47:37and limitations of genetic testing,
01:47:40and we go over the different types
01:47:41of results that are possible.
01:47:43And then when the results do come back,
01:47:44we help to interpret and return
01:47:46those results to the family
01:47:47and then digestible manner. Uh.
01:47:50Then afterwards will help provide
01:47:51continued support and identify any
01:47:53other resources for the patient and
01:47:55their family that they might need.
01:48:00Something that I didn't
01:48:01necessarily list on here,
01:48:02but it is a part of the job as well,
01:48:04is that if you're if we're
01:48:06doing genetic testing,
01:48:07oftentimes the genetic counselor is
01:48:09the person who helps fill out the
01:48:11medical part of the paperwork that
01:48:13has to be done is we have to talk
01:48:15about the symptoms and why this
01:48:17individual needs genetic testing.
01:48:20So I wanted to go for one case example here
01:48:23what what I may
01:48:26or may not see in the genetics clinic.
01:48:28So for example, let's say a 9 month old
01:48:31male is coming in to see me and they have
01:48:34they were born with a congenital heart
01:48:36problem called pulmonary valve stenosis.
01:48:39So it's a very specific type of.
01:48:43Heart defect that someone can be born with,
01:48:45and it's pretty rare.
01:48:47And the baby was born with
01:48:50normal weight and size.
01:48:51But then over time the pediatrician noticed
01:48:54that the weight gain started slowing
01:48:56down as well as the growth in general.
01:48:58So nine months old, that's pretty concerning.
01:49:01We see a lot of babies who are
01:49:03starting to follow up growth curves,
01:49:04so this is a pretty common
01:49:06reason to refer to us and then,
01:49:08together with both of the above symptoms,
01:49:10the parents you know after talking
01:49:12to them some more and going over the
01:49:15different systems parents have also.
01:49:17Explained to you that they feel like
01:49:19the baby has pretty easy bruising.
01:49:21Maybe they had a blood draw before and
01:49:24they noticed bruising just from you know,
01:49:26the nurse trying to take the
01:49:28blood for example.
01:49:28Or maybe they had prolonged
01:49:30bleeding after a cut or something.
01:49:33So putting those three
01:49:34together when you're doing a family history,
01:49:36you start asking a little bit more about
01:49:39conditions that you might be thinking about.
01:49:42Are your differential list.
01:49:44So the different possible diagnosis.
01:49:46So going over their family history,
01:49:48find out pretty pretty much
01:49:50not too much going on on.
01:49:52The only thing is,
01:49:53let's say mom is shorter than expected
01:49:57and she also had some kind of
01:49:59unknown heart problem when she was a baby.
01:50:01She doesn't know what it was, but she was.
01:50:03Otherwise healthy and didn't need surgery.
01:50:06So putting all this together,
01:50:08oftentimes families will ask you
01:50:10or the geneticist you know,
01:50:12what do you think my kid has?
01:50:16And maybe 20 years ago,
01:50:1830 years ago when we only knew
01:50:21about a handful of conditions,
01:50:22it might have been easier back then.
01:50:24But now we know about, you know,
01:50:28over 7000 different conditions.
01:50:30In addition to that,
01:50:32we now understand that a lot of
01:50:35individuals can present very mildly,
01:50:37we expanded the spectrum of symptoms
01:50:39that someone can have in the spectrum
01:50:42of severity that we can see.
01:50:44So now when people.
01:50:46Ask us,
01:50:46you know what condition
01:50:48do you think my child
01:50:49has or I have.
01:50:51Oftentimes, we just I would say
01:50:53I've never heard myself or the
01:50:55geneticists say to the family that
01:50:57we are certain that the child has
01:51:00any Commission in particular because
01:51:02of the expansion of this knowledge,
01:51:05we can't really pinpoint anything.
01:51:08But sometimes what we will say is,
01:51:09you know, based on what I'm seeing here,
01:51:12the multiple symptoms I do
01:51:13think it is genetic.
01:51:14I just don't know what exactly
01:51:15it is and we need to do testing.
01:51:17With that so Fast forward,
01:51:19let's say we do testing for
01:51:21this individual and we find out
01:51:23that they have Union syndrome,
01:51:25so that's a condition that it kids
01:51:28can be born with what we call
01:51:30pulmonary valve stenosis again.
01:51:31And it's something we often see together
01:51:33and think of immediately when we see
01:51:36that a baby born with that.
01:51:39Especially when they start to slow
01:51:41down when their weight gain later on,
01:51:43and they can also have, you know,
01:51:46problems with the playlets and
01:51:49which leads to the easy bruising
01:51:51or prolonged bleeding times.
01:51:53And they can also have some other symptoms.
01:51:55Sometimes there can be some
01:51:56mild hearing loss as well,
01:51:58so developmental delays depending on the
01:52:00type of Noonan syndrome so you can see
01:52:02that even if I said Noonan syndrome,
01:52:04it really depends on which gene.
01:52:06So all of that happens after the visit.
01:52:09I would go over the results with the family.
01:52:12Let's say it's a dominant form of Noonan
01:52:14syndrome here or autosomal dominance,
01:52:16and we go over that inheritance pattern.
01:52:18Go over who else might need to be tested
01:52:20or might want to consider testing.
01:52:22So in this case example,
01:52:24it's the mother.
01:52:25These individuals can also be of
01:52:28short stature.
01:52:30So for the baby we might consider sending
01:52:32to endocrinology to monitor and also see
01:52:34if maybe growth hormone is something that
01:52:36might be given at some point in the future.
01:52:39For the mom, we're more concerned about
01:52:42adult onset symptoms of Newman syndrome.
01:52:45So for example,
01:52:46they can have something called
01:52:49hypertrophic cardiomyopathy,
01:52:49which is a thickening of the heart.
01:52:51Muscle makes it harder for it to pump,
01:52:53so that's definitely something that
01:52:54we want to keep an eye out for.
01:52:56And then Mom might just want to know
01:52:58her future risks to other children that
01:53:00she might be having in down the line.
01:53:03So we'd go over all of that with the family,
01:53:06and again,
01:53:07we help to coordinate care
01:53:08between any other specialists.
01:53:09They need to be followed with and
01:53:11then we provide that psychosocial
01:53:13support and resources,
01:53:14especially when given the new diagnosis
01:53:17that someone might not be expecting.
01:53:19I will say as part of my role
01:53:21as a general genetic counselor,
01:53:24we also get called to the hospital sometimes.
01:53:26So when we're on call,
01:53:29that means that anyone on the floor
01:53:32or the ICU the intensive care units
01:53:34may call us for a genetic consult.
01:53:37So for example,
01:53:38if you have a patient that's hospitalized
01:53:40with the symptoms that we just mentioned,
01:53:42maybe the baby is severely,
01:53:45you know,
01:53:45in addition to not really gaining
01:53:46a lot of weight,
01:53:47maybe they're they have seizures
01:53:49and they're coming in.
01:53:51And I think that might be genetic.
01:53:53They will be addressed,
01:53:54and then we'll have to go see and evaluate.
01:53:57And do you know,
01:53:58talk to the family about whether
01:54:00or not testing is indicated
01:54:01and where to go from there.
01:54:03So in addition to just seeing
01:54:05patients outpatient setting,
01:54:06sometimes we see patients
01:54:08in inpatient as well.
01:54:10So I just wanted
01:54:11to end with some other common
01:54:13conditions that you may see
01:54:14in a general genetics clinic,
01:54:17so you may have heard of Down
01:54:19syndrome neurofibromatosis type
01:54:22121 to 22 Q 11.2 deletion syndrome,
01:54:26which is a microdeletion syndrome.
01:54:27That's pretty common. Carter, Willie,
01:54:31we already talked about Noonan.
01:54:34EKU or phenylketonuria and it's
01:54:36one of those metabolic conditions
01:54:38that I briefly mentioned before
01:54:40cystic fibrosis and then Duchenne
01:54:43or Becker muscular dystrophy is
01:54:45another common indication or
01:54:47common condition that you may see.
01:54:49I will say though,
01:54:51a lot of hospitals have specialized
01:54:52clinics for these common diseases,
01:54:54so in those cases you may not
01:54:56end up seeing those patients
01:54:58in the general genetics clinic.
01:55:00We may see the more complex cases
01:55:03or these medical mysteries.
01:55:04Versus the the ones that are more
01:55:07easily diagnosed or taken care
01:55:09of by other providers.
01:55:11So that's kind of, I think,
01:55:13interesting that these are some
01:55:15of the more common conditions.
01:55:16I would say 1020 years ago
01:55:18that you might have seen nowadays
01:55:20I I almost rarely see some of these
01:55:23conditions because they're followed
01:55:25in other specialty clinics instead,
01:55:27as other physicians become more
01:55:29well versed with how to order.
01:55:32You know simple genetic testing
01:55:34rather than these medical.
01:55:35District cases where it's best
01:55:37referred to a general genetics clinic.
01:55:41Alright, so other than that.
01:55:45That's pretty much all I
01:55:46have for you guys today.
01:55:48I'm sorry I couldn't be there in person,
01:55:52but hopefully this was helpful and
01:55:54gave everyone a taste of what pediatric
01:55:56or general genetics may look like.
01:55:58Thanks again and bye.
01:56:03OK, so that was Emily with
01:56:07general and pediatric genetics.
01:56:09I'm going to. Let's see.
01:56:14Amy, I think you're next before
01:56:17our break. Hang in there everybody
01:56:20at 10 minutes for coffee
01:56:21to come. But last but certainly
01:56:24not least, we'll have a meet here.
01:56:36OK, good afternoon everyone.
01:56:39Hope that the.
01:56:41Your day's been going well.
01:56:43I'm going to share my screen.
01:56:49So today I am pleased to talk
01:56:51to you about about cancer,
01:56:53genetic counseling.
01:56:54My name is Amy Kelly.
01:56:56I'm a genetic counselor at
01:56:57Smilow Cancer genetics.
01:56:58I work closely with Alex.
01:57:02And just some background about me.
01:57:04I graduated from State
01:57:05University of New York.
01:57:07So Suni, Oswego,
01:57:09and 2014 with my Bachelors of
01:57:11Science in Zoology and then took
01:57:14one year off between graduating
01:57:17and going to my masters because I
01:57:20wanted time to apply for programs.
01:57:23Also wanted to get some
01:57:25volunteering experience.
01:57:26I graduated from the Icon School
01:57:28of Medicine at Mount Sinai with my
01:57:30masters in genetic counseling in 2017.
01:57:32And I'm board certified as a 2017
01:57:35and actually just recertified this
01:57:36year because as a genetic counselor
01:57:39need to recertify every five years.
01:57:42And I've been with the Smilow cancer
01:57:44genetics program since June of 2017,
01:57:46so coming up on my 5 year
01:57:48anniversary here where I practice
01:57:50specifically clinical cancer,
01:57:51genetic counseling.
01:57:55So just says an overview overview
01:57:57about hereditary cancer in general,
01:57:59we like to refer to red
01:58:02flags for hereditary cancer.
01:58:03That just means that there's specific
01:58:06findings in someone's family
01:58:08that may be more suspicious that
01:58:10the cancers could be hereditary.
01:58:13That would be the big thing.
01:58:14Cancers at early ages,
01:58:15and that's not all cancers.
01:58:17Some cancers may naturally occur
01:58:19in younger ages, but for example,
01:58:21breast cancer diagnosed under 50,
01:58:24particularly.
01:58:24Under 45 that is in and of itself
01:58:28suspicious of a hereditary predisposition
01:58:30to develop that type of cancer.
01:58:33Another thing that we may see is
01:58:36multiple family members in the
01:58:37same family with the same type
01:58:39of cancer or associated cancers.
01:58:41So that would be multiple people
01:58:43and multiple generations on one
01:58:45side of the family,
01:58:46all with colon cancer for example.
01:58:49Or there are some cancers when
01:58:51they are hereditary,
01:58:53they can be associated with other
01:58:55risks of other cancers such as breast
01:58:57or ovarian cancer or pancreatic cancer
01:58:59in the same family we're seeing
01:59:01colon and uterine cancer in the same.
01:59:03Family,
01:59:04so it's not necessarily
01:59:05seeing more cancer in general,
01:59:07but sometimes it can be a risk factor,
01:59:09but particularly this the same type
01:59:11of cancer or known associated cancers
01:59:14that's that would be a red flag.
01:59:17Rare cancer,
01:59:18some cancers are very rare
01:59:19and may not be hereditary,
01:59:21but there are specific cancers that
01:59:24are rare that are more likely to be
01:59:27hereditary that includes ovarian cancer,
01:59:29pancreatic cancer, or male breast cancer.
01:59:31Those cancers, specifically,
01:59:32are more likely to be hereditary.
01:59:35Other cancers,
01:59:36such as these tumors with very long names,
01:59:39paragangliomas and pheochromocytomas,
01:59:41are rare tumors.
01:59:43Paragangliomas are typically benign.
01:59:45They occur along.
01:59:47This axis of the body.
01:59:49But they are very rare tumors that
01:59:51are actually have a high percentage of
01:59:54high likelihood of being hereditary.
01:59:55A few chroma cytoma is essentially a
01:59:58paraganglioma that sits on the adrenal gland,
02:00:01so right above the kidney and people
02:00:03with a feel chromo cytoma presence
02:00:05on the kidney may develop symptoms
02:00:08of essentially overactive fight or
02:00:11flight symptoms such as anxiety,
02:00:14sweating, flushing, etcetera.
02:00:15So those tumors, specifically rare tumors,
02:00:18are also known to be more likely
02:00:21to be hereditary.
02:00:23Cancers that are unusually aggressive
02:00:25so those cancers could be things like.
02:00:29Prostate cancer prostate cancer is
02:00:31very common in the in the general
02:00:34population for men, however,
02:00:36it's less common for prostate
02:00:38cancer to be aggressive or be a
02:00:40cause of the man's death.
02:00:42So when we see prostate cancer,
02:00:44that is aggressive or spread
02:00:46to other parts of the body.
02:00:47That is also a red flag for
02:00:50that cancer being hereditary.
02:00:52Or one person having multiple
02:00:54types of cancer cancer is common
02:00:56in the general population.
02:00:58One in three people will develop cancer.
02:01:01However,
02:01:01seeing one person with multiple
02:01:04cancers does increase suspicion
02:01:07that that person may have a genetic
02:01:10predisposition to develop more
02:01:12more than one type of cancer.
02:01:13So that includes women or men
02:01:16who have bilateral breast
02:01:18cancer. So cancer in both breasts
02:01:20or someone who've had colon.
02:01:22Or any uterine cancer.
02:01:25Additionally, we also know that
02:01:27individuals who are Ashkenazi Jewish
02:01:29are more likely to specifically have
02:01:31hereditary breast and ovarian cancer,
02:01:33which I will talk about a little in a
02:01:35little bit, but there are two genes,
02:01:37specifically BRC one and BRC 2
02:01:39that anyone of any ethnicity or
02:01:42ancestry can have mutations in.
02:01:45However, individuals who are Ashkenazi
02:01:47Jewish have a higher likelihood of
02:01:49having mutations in these two genes,
02:01:51specifically one in 40 people
02:01:53that are Ashkenazi Jewish.
02:01:55Will have a BRCA one or BRCA 2
02:01:57mutation compared to the non Ashkenazi
02:01:59population which is about one in 400.
02:02:04Now for a quick
02:02:05poll. So, so I mentioned cancer is
02:02:09very common, but approximately what
02:02:11percentage of cancers are hereditary?
02:02:14Is it less than 5%? Is it between 5
02:02:18to 10% and again popping average?
02:02:20Here is between 20 to 25%?
02:02:23Or is it around 40%?
02:02:26So take a couple seconds think.
02:02:29Approximately what percentage
02:02:30of cancers are hereditary?
02:02:47No 46% great guys have. That's
02:02:49basically all you guys can all be.
02:02:51Cancer genetic counselors
02:02:52now so that's correct.
02:02:54So most about 5 to 10% on average
02:02:57of cancers are hereditary which a
02:02:59lot of patients are surprised by.
02:03:01I think it's a almost this idea that
02:03:04most cancers hereditary, but five to 10%.
02:03:07Definitely not a small amount,
02:03:09but the grand majority are
02:03:12actually not hereditary.
02:03:14And there's little nice little pie
02:03:15chart here, So what causes cancer?
02:03:1870% of cancer we consider to be sporadic,
02:03:21meaning that it's due to things like
02:03:24the environment like asbestos exposure,
02:03:27radiation exposure, things like lifestyle.
02:03:30We know that tobacco use can be a risk
02:03:33factor for certain types of cancers,
02:03:35including lung cancer.
02:03:36The natural aging process is
02:03:38also a risk factor for cancer.
02:03:40That's why we tend to see
02:03:42cancers diagnosed and.
02:03:43And older ages because as we age
02:03:45we have a higher likelihood of
02:03:47acquiring a random mutation that
02:03:50could then develop into a cancer.
02:03:52Also, sometimes cancer does just
02:03:54occur due to complete random chance.
02:03:57You see Heritary familial and those two.
02:04:00Those terms do sound very similar.
02:04:03We distinguish them in cancer
02:04:05genetics a little bit.
02:04:0620% of cancer is familial.
02:04:09Familial means.
02:04:09You may see clusters of the same
02:04:12type of cancer in someone's family.
02:04:14However,
02:04:14we do not find one single genetic change.
02:04:19One single gene mutation that
02:04:21is causing those.
02:04:22Answers so we do think that for familial
02:04:26cancer there may be small genetic factors,
02:04:29possibly in multiple genes,
02:04:32possibly polygenic that is
02:04:34working with shared environmental
02:04:36factors and lifestyle factors,
02:04:38because families often live
02:04:40in the same locations,
02:04:41live have similar lifestyles,
02:04:43and this combination may create an
02:04:46overall higher risk of cancer in
02:04:48that one family that's not caused
02:04:50by one single gene hereditary.
02:04:52Is a type of cancer that we can
02:04:54do genetic testing for that means
02:04:56someone is born with or they
02:04:58inherit one single genetic change.
02:05:00A harmful gene mutation or pathogenic
02:05:03variant that predisposes them
02:05:05over their lifetime to developing
02:05:08certain types of cancers.
02:05:09And this is an overview of what
02:05:11what we think about. You know why?
02:05:14How why cancer develops.
02:05:15This is an oversimplification,
02:05:16but I think it kind of drives
02:05:19the point home of why there is
02:05:21this predisposition.
02:05:22So on the top these are
02:05:23cells cells in the body,
02:05:25so everyone as we know has
02:05:272 copies of every gene,
02:05:28so with sporadic cancer at the top.
02:05:31Overtime a gene could acquire a
02:05:33mutation again due to some sporadic
02:05:36factors such as the environment,
02:05:38lifestyle, aging, random chance,
02:05:41however,
02:05:42that second copy of the gene
02:05:44is still working,
02:05:45so that cell continues to
02:05:46grow and act normally.
02:05:48It's only when someone acquires a second hit,
02:05:51someone the gene requires a second
02:05:53hit that that cell essentially
02:05:55maybe nonfunctional and through
02:05:58other complicated processes can
02:06:00then go on to become a tumor.
02:06:03Where that cell growth is now not
02:06:06regulated with an inherited mutation,
02:06:08it's different because someone's
02:06:10already born with a mutation
02:06:12already in one copy of their genes,
02:06:14and this is present in all
02:06:15the cells of their body.
02:06:17However, they have one copy of the
02:06:19gene is still working normally.
02:06:21So essentially though,
02:06:23that one copy can work throughout
02:06:26someone's entire lifetime,
02:06:28but since someone's essentially
02:06:30down a line of defense,
02:06:32if someone needs to acquire.
02:06:33Only a single mutation in that one copy
02:06:35of the gene to then start the process,
02:06:38potentially of a tumor developing,
02:06:41so that is why with hereditary cancers we
02:06:43may just see more cancer in the family,
02:06:46younger cancers, more rare cancers,
02:06:49multiple cancers in one person.
02:06:51Things like that,
02:06:52and this is called this.
02:06:53This process is called knudsens
02:06:562 hit hypothesis of why cancer
02:06:59develops and why specifically
02:07:01we see Hereditary Cancer Act.
02:07:02The way or present the way
02:07:04it does in certain families.
02:07:08So just want to talk about a typical
02:07:11day for a cancer genetic counselor and
02:07:13I'd like to start by talking about an
02:07:15example case so I know we've talked.
02:07:18My other colleagues have talked
02:07:20about genetic counseling in general,
02:07:22so I won't go into the details of
02:07:24exactly the genetic counseling process,
02:07:27but but essentially the patients that I
02:07:29see are those who have who have cancer,
02:07:32who have had cancer or who have
02:07:34family history of cancer,
02:07:35and the goal through a pedigree
02:07:37is to look for those.
02:07:38Red flags that I mentioned earlier to
02:07:41determine what is the likelihood or
02:07:43the risk that there is a herbard itary
02:07:46predisposition to cancer in someone's family.
02:07:49So for this case this is a
02:07:5163 year old female.
02:07:52She was diagnosed with breast
02:07:54cancer when she was 56.
02:07:55She never had genetic testing previously,
02:07:58but she came in now to talk about
02:08:00genetic testing in her family.
02:08:02There's even see a lot of cancer going on.
02:08:05All those little dark dark corners.
02:08:08And her maternal side of the family,
02:08:10there is a mutation in a specific
02:08:13gene called ATM,
02:08:14so her cousin had breast cancer and
02:08:17has reportedly an ATM mutation which I
02:08:20could not confirm with records and ATM
02:08:22which I will talk about in a little
02:08:25bit is a moderate risk breast cancer gene.
02:08:28So the ATM mutation may be playing a
02:08:31role in her cousin's breast cancer
02:08:33and that is a hereditary cancer gene.
02:08:36However, it appeared based on what?
02:08:39Patient reported that that ATM mutation
02:08:41was coming from her cousin's father,
02:08:43which is not a blood relative to my patient,
02:08:46meaning that my patient would not
02:08:48have been at risk of inheriting
02:08:51that that same mutation.
02:08:53So thinking about red flags in her
02:08:55family when we're also seeing is apart
02:08:57from her history of breast cancer,
02:08:59which is not a very young age.
02:09:01It's over 50.
02:09:02It was after menopause,
02:09:03which is less likely to be hereditary.
02:09:06We do see an ovarian cancer in
02:09:08her maternal great.
02:09:09Aunt,
02:09:10but a little bit distant to her and
02:09:12related through her mother who is 83
02:09:15with no cancer on her father's side.
02:09:17However,
02:09:18her paternal uncle did die
02:09:20from prostate cancer,
02:09:21and if you remember the prostate
02:09:23cancer is common in men.
02:09:25One in nine men will develop prostate cancer.
02:09:27Metastatic prostate cancer is less
02:09:30common and more likely to be hereditary
02:09:33and also thinking about a pedigree.
02:09:36I think about limitations
02:09:38in family histories.
02:09:40Her father's side is is small with only men,
02:09:44which can limit an assessment.
02:09:46So this is I like this case because it
02:09:48shows kind of the importance of taking
02:09:51into account both sides of the family
02:09:53thinking about those associated cancers,
02:09:56thinking about what.
02:09:57What can we confirm with the records?
02:09:59Ideally we always want to confirm
02:10:01test results with records,
02:10:02but sometimes we can't.
02:10:04So this is a great case to show that even
02:10:06though this risk factors on maybe her
02:10:09mom's side, there's also maybe more.
02:10:10Significant risk factors
02:10:12on her father's side.
02:10:14So for her we talked about hereditary cancer,
02:10:18specifically BRC one and BRC A2,
02:10:21which I will talk about and talked about
02:10:24other hereditary cancer genes as well
02:10:27nowadays with with cancer genetic counseling.
02:10:30Of course we go through the
02:10:32benefits of doing genetic testing,
02:10:34which for cancer genetic
02:10:35counselors is really prevention,
02:10:37particularly for individuals
02:10:38who maybe do not have cancer.
02:10:41Or who possibly could have a
02:10:44predisposition to another cancer.
02:10:45The goal of knowing about hereditary
02:10:47cancer risk is that if we know someone's
02:10:50at higher risk of certain cancers,
02:10:52there's certain screening options that
02:10:54possibly could be condoned be done,
02:10:56and also possible surgical options
02:10:59that can actually prevent cancer.
02:11:01Additionally,
02:11:02for people who have cancer,
02:11:04it can be important for treatment decisions,
02:11:07meaning that there are some chemotherapies
02:11:09or treatments that may be more targeted.
02:11:12Individuals with certain gene mutations and
02:11:14it also may be helpful in planning surgery.
02:11:17So for her we did genetic testing
02:11:20and nowadays genetic testing tends
02:11:23to be comprehensive and there's
02:11:25there's a lot of genes listed
02:11:27here the about 1212 years ago.
02:11:3113 years ago.
02:11:3211 years ago.
02:11:3310 years ago.
02:11:34We really only doing testing for
02:11:36two genes when we're talking
02:11:37about hereditary breast cancer,
02:11:39so BRCM one and BRC 2 colloquially.
02:11:42Called the Braca genes.
02:11:43A lot of people have heard about
02:11:46these genes since Angelina Jolie went
02:11:48public with her own BRC 1 mutation and
02:11:50her decision to have a prophylactic
02:11:52bilateral mastectomy to remove both breasts.
02:11:56Initially,
02:11:56these two genes we've been testing
02:11:58for them for over 20 years,
02:12:00so we have a lot of information and
02:12:02they were the only genes we were
02:12:04testing for for quite some time,
02:12:06so a lot of people are referred to these
02:12:09two genes as the breast cancer gene.
02:12:11However, there are a number of.
02:12:13Other genes related to hereditary
02:12:15breast cancer,
02:12:16including one syndrome called
02:12:18Lee Formini syndrome,
02:12:19related to mutations in TP 53,
02:12:22which is which is more rare
02:12:24leaf armeni syndrome.
02:12:25You would expect to see cancers in childhood,
02:12:28including leukemias and childhood
02:12:31brain tumors, osteosarcomas,
02:12:33cancers of the bone, sarcomas,
02:12:36cancers of the soft tissue,
02:12:39and a risk of breast cancer,
02:12:41usually before the age of 35,
02:12:42so it is a very significant.
02:12:44Territory cancer syndrome.
02:12:46Cowden syndrome is another hereditary
02:12:48breast cancer syndrome caused by related
02:12:51to a high risk of breast cancer.
02:12:54Individuals also can develop
02:12:55rare polyps of the colon.
02:12:58Uterine cancer, kidney cancer.
02:13:00Additionally,
02:13:01they have on average a larger head
02:13:03size and may have specific findings
02:13:05on on the skin called Trichomonas
02:13:08so another another rare hereditary
02:13:10cancer breast cancer syndrome.
02:13:13Another one is called.
02:13:14ADHD,
02:13:14one hereditary diffuse gastric
02:13:16cancer syndrome where specifically
02:13:18individuals are at risk to develop
02:13:21lobular type breast cancer,
02:13:22a type of breast cancer and a rare
02:13:25stomach cancer called diffuse gastric cancer,
02:13:28which is a type of gastric
02:13:30cancer that's very hard
02:13:32to screen for. So for individuals with
02:13:34mutations in these genes and CDH,
02:13:37one that actually is a recommendation
02:13:39for a prophylactic gastrectomy
02:13:41to remove the stomach to be
02:13:42prevented in against the high risk.
02:13:44Gastric cancer, which is oftentimes
02:13:46not able to be screened for.
02:13:49Another syndrome is called puts
02:13:51Yager syndrome caused by mutations.
02:13:52STK 11. You can also see your risk
02:13:55of breast cancer with this syndrome.
02:13:57However, what you may can also see is
02:14:00there at risk to develop polyps of the
02:14:02small bowel and they may cause they
02:14:05may develop something called inception
02:14:07where the small bowel collapses on itself.
02:14:10They also have distinctive,
02:14:12oftentimes distinctive lift markings.
02:14:14I'm almost like I've been told,
02:14:16almost like someone ate it like
02:14:17a bunch of Oreos, kind of like.
02:14:19Are freckling on the lips or on the fingers?
02:14:22And risk of other cancers as well
02:14:24tends to another rare syndrome.
02:14:26There are also other genes that are
02:14:28more of a moderate risk and are actually
02:14:30more common than we're finding a
02:14:31lot more often now that we're doing
02:14:33more comprehensive genetic testing.
02:14:35I mentioned ATM, but there's another
02:14:37one called palb 2 and check two,
02:14:39so those are the mainly hereditary
02:14:41breast cancer genes.
02:14:43Hereditary colon cancer,
02:14:44the most common one that we talk
02:14:46about is Lynch syndrome,
02:14:48which is mainly characterized by increased
02:14:50risk of colon cancer and endometrial cancer.
02:14:53That we may see risks of other
02:14:55cancers as well,
02:14:56such as stomach cancer, ovarian cancer,
02:14:59pancreatic or bile duct cancer.
02:15:01There's even other genes related
02:15:03to risk of ovarian cancer,
02:15:04specifically that are more in
02:15:06a moderate risk called rat.
02:15:0851 CD rate, 51 D and brip one,
02:15:11and there's a lot more so testing nowadays.
02:15:14How we lead with testing,
02:15:16at least in our program and
02:15:17other programs as well,
02:15:18is we tend to do more comprehensive testing
02:15:22because there are a lot more genes.
02:15:24Out there that we know of and their
02:15:27cancer risk is really dependent on the gene.
02:15:29So doing bigger testing now is is
02:15:32a benefit because our technology
02:15:35has gone cheaper,
02:15:36faster and better and we can rule
02:15:38out multiple previous positions at
02:15:40the same exact time while about 10
02:15:42years ago we were limited to just
02:15:44testing for BRC one and BRC 2.
02:15:46So my patient did have a comprehensive
02:15:49panel testing and she had a BRC 1
02:15:53mutation which was actually it was
02:15:54was a little bit surprising because
02:15:56as we talked about,
02:15:57the only significant risk factor in
02:15:59her family apart from her history
02:16:02of breast cancer was her paternal
02:16:04uncles metastatic prostate cancer.
02:16:06What's interesting with BRC one is
02:16:08there is a slightly increased risk
02:16:10for men to develop prostate cancer
02:16:12that tends to be more aggressive,
02:16:14so it's based on the family history.
02:16:16It was most likely that Shane hitter.
02:16:18This from her father's side of the family,
02:16:21and you can see there.
02:16:22There's also,
02:16:23I know these have been talked about
02:16:25by my my other colleagues,
02:16:27but there wasn't a variant of
02:16:29uncertain significance which are very
02:16:31common nowadays in cancer genetics.
02:16:33When we do these bigger panels,
02:16:35and especially with bigger tests,
02:16:36nowadays we do find uncertain results
02:16:39about 20 to 30% of the time with
02:16:41these panels and most of the time in
02:16:44cancer genetics uncertain results,
02:16:46variants of uncertain significance,
02:16:47or the US.
02:16:49End up being reclassified to benign so
02:16:51they are not actionable or things that
02:16:53we act on and the laboratory in the
02:16:56future usually takes even a few years.
02:16:58Will update.
02:16:58Update us to either upgrade
02:17:00the result to a positive,
02:17:02which is less likely,
02:17:03or downgraded to a negative result.
02:17:08And that's and that's that
02:17:09mutation for my patient.
02:17:11And she was. She was very.
02:17:12She was surprised in a way,
02:17:15and as a I was a little bit surprised
02:17:17as well and she was someone who really,
02:17:19really struggled a little bit
02:17:20with it with these results because
02:17:22she was concerned about her
02:17:24risk of a second breast cancer.
02:17:26And is that something that she should
02:17:29have a prophylactic mastectomy
02:17:30for to be preventative at her age?
02:17:33You know she's not.
02:17:34She's not very young,
02:17:35but she's definitely not not older.
02:17:36She has.
02:17:37She has many years to live.
02:17:38So it was kind of thinking about how how
02:17:41should I go about dealing with this risk.
02:17:43She still had her ovaries,
02:17:45so something that she had to think
02:17:46about in terms of removal of the ovaries,
02:17:48which which is recommended for
02:17:50women who are here say one or beer,
02:17:52say 2 positive because our screening
02:17:55for ovarian cancer is not as
02:17:57effective as our screening for
02:17:59breast cancer and so the goal,
02:18:01as I mentioned of doing this type of
02:18:04testing is prevention and increased
02:18:06screening when when possible.
02:18:10So further follow up that
02:18:12I did with this patient,
02:18:13but also with other cases in general.
02:18:15Again, if we're talking about
02:18:17my typical day that I discussed
02:18:18results with the patient and
02:18:20and then based on the results,
02:18:22I would refer to any appropriate
02:18:24providers for management such as
02:18:26a gynecologic oncologist for my
02:18:29patient to discuss removal of the
02:18:31ovaries and discuss the limitations
02:18:33of ovarian cancer screening,
02:18:35referral to a high risk breast
02:18:38oncologist to talk about.
02:18:39Screening for breast cancer.
02:18:41The risks and benefits of doing a
02:18:44bilateral mastectomy to to remove both
02:18:46breasts in terms of prevention and in
02:18:48terms of other other types of results.
02:18:51I would refer to other specialists
02:18:53familiar with the syndrome
02:18:55who can also provide guidance
02:18:57in terms of cancer screening.
02:19:00And of course,
02:19:01for this patient and other patients,
02:19:02I provide resources for
02:19:04themselves and family members,
02:19:05including a letter for family
02:19:07for relatives meet something they
02:19:09can share with their family,
02:19:11describing their results and
02:19:13recommendations for testing.
02:19:15Also,
02:19:15there's a lot of a lot of resources
02:19:18online in terms of support groups,
02:19:20information and directing patients
02:19:22to those support groups and possibly
02:19:25even referral to to a psychiatrist to
02:19:27talk to just for more psychosocial.
02:19:30Counseling and dealing with finding
02:19:32out someone has a mutation.
02:19:34Every patient takes results a
02:19:36little bit differently.
02:19:37For some it's it can be.
02:19:40It can be very difficult to
02:19:41hear these new this news,
02:19:42but they find it important for other people.
02:19:44It's almost a relief to have an
02:19:46answer and A and a plan going forward.
02:19:49So.
02:19:49So I would say the patients
02:19:51demanded what the results are.
02:19:52It's information and especially
02:19:54for hereditary cancer,
02:19:55it can be very,
02:19:56very powerful for themselves and
02:19:59information they can provide to relatives.
02:20:01A lot of what a lot of what Jane counselors
02:20:04do is document in the medical record,
02:20:06which is very important,
02:20:07so other providers know what was discussed.
02:20:09They can go back to my notes,
02:20:11see the cancer risks I mentioned,
02:20:13see screening recommendations,
02:20:15and any patients questions
02:20:16that I answered at that time.
02:20:19Of course,
02:20:19I notified that the referring
02:20:20provider of the results,
02:20:22so making sure the whole teams are
02:20:24aware of what the results are so
02:20:27the patient is fully plugged in.
02:20:29The results were scanned in
02:20:30the medical record.
02:20:31Again,
02:20:31this is really just making sure
02:20:32that these results are clear that
02:20:34they're easily accessible that
02:20:36they're part of the patients medical
02:20:37record and that the medical team
02:20:39is is aware writing a summary
02:20:41letter which summarizes the results
02:20:43in in detail because the report
02:20:45can sometimes is really not clear
02:20:47sometimes to patients who may not
02:20:49have the medical terminology,
02:20:50so the letter is really helpful in
02:20:54providing those cancer risks recommendations.
02:20:56What we talked about, what,
02:20:58what that means for relatives.
02:21:00In detail,
02:21:00so they can also share that with
02:21:02with their own with other providers
02:21:05or with their relatives.
02:21:07For our program,
02:21:08here we present cases at Case conference,
02:21:10which is great, but essentially
02:21:12our team meeting once a week.
02:21:15We present positive results or difficult
02:21:17cases and we get the team's input.
02:21:20If there's anything additional
02:21:21that they should be tested
02:21:23for should be screened for,
02:21:24and it's it's nice to have
02:21:27that group consensus.
02:21:28And throughout the rest of the day,
02:21:29I'm doing other clinical and program tasks.
02:21:32One of my one of my other roles here
02:21:34at the program is actually triaging
02:21:37incoming referrals to be scheduled.
02:21:39So I look at every incoming referral,
02:21:41determine the indication,
02:21:42and determine how they should be
02:21:44scheduled and following up with
02:21:46providers looking at past test results
02:21:48to see if any testing is indicated,
02:21:50which I enjoy because it's another
02:21:51way to use my clinical brain and also
02:21:54helps the admin the admin team in
02:21:56terms of their own scheduling process.
02:22:00So overall, overall cancer genetic
02:22:03counseling. It's something
02:22:04that I'm very passionate about.
02:22:06I think it's it's very important.
02:22:08It is information that can really.
02:22:11Change lives change outcomes for patients.
02:22:14Provide information in
02:22:15terms of of cancer risk.
02:22:17Some days can be difficult and you
02:22:19know disclosing some information.
02:22:21Talking with patients,
02:22:22but overall I find it very rewarding
02:22:24to provide that information.
02:22:26If you I will have,
02:22:27I will answer questions
02:22:28now and also at the end.
02:22:30But if there are any questions you
02:22:31have specifically about being cancer,
02:22:32genetic counselor or my background
02:22:34or any more of my day to day task,
02:22:36please email me.
02:22:44Thanks Amy, that was a really great talk.
02:22:46I'm just going to share my screen
02:22:48because I put I started the
02:22:51countdown until we come back for
02:22:54the second half of our session.
02:22:55A little earlier just to get us back
02:22:59on track. But if you don't mind,
02:23:00I think there was a question.
02:23:02Claire did you happen to see regarding
02:23:05insurance and genetic testing?
02:23:08Yes, so there was one question Amy
02:23:11about whether there are any barriers
02:23:14that the patient or the genetic
02:23:16counselor might experience when
02:23:17it comes to getting genetic
02:23:19testing covered through insurance.
02:23:22Great question.
02:23:23So insurance is probably the bane of
02:23:25every genetic counselors existence.
02:23:28I will say from what I've heard from my
02:23:30other colleagues and other specialties,
02:23:32cancer genetic testing is more easily
02:23:34covered than other specialties,
02:23:36but that we can still run into barriers.
02:23:38So insurance has specific
02:23:42guidelines mainly based kind of
02:23:43off the red flags I talked about,
02:23:46meaning that if a patient does not have this
02:23:48family history or this personal history,
02:23:50they will not cover.
02:23:52Testing most insurance companies align
02:23:54with national guidelines recommendations,
02:23:56which can make it very easy.
02:23:58However, some insurance companies
02:24:00make up their own guidelines,
02:24:02meaning that someone could technically meet
02:24:04national guidelines and recommendations,
02:24:05but they will not meet their
02:24:07insurance guidelines.
02:24:08So sometimes the specific
02:24:10insurance is is is a barrier.
02:24:12Another barrier is that even
02:24:14though I would say we're past that,
02:24:16we're past the era of testing
02:24:18for just BR A1 and BRC A2.
02:24:21A lot of insurance companies.
02:24:22Aren't in that area yet.
02:24:24They're kind of living in the past.
02:24:25They will only want to cover
02:24:27testing for beer, say one and B RC2,
02:24:29which to us based on a person's
02:24:32family history.
02:24:32If they're his family, history is concerning.
02:24:35For hereditary breast cancer specifically
02:24:37doing just beer, say one and two,
02:24:40testing is not sufficient,
02:24:41so sometimes it can be difficult when
02:24:43we want to do a more expanded panel.
02:24:45A panel meeting again,
02:24:47looking at multiple types of genes in one,
02:24:50one test.
02:24:50Some insurance companies do
02:24:52not want to cover.
02:24:53A larger panel,
02:24:54even though to us we feel it's
02:24:56clinically indicated so that
02:24:58can sometimes be a barrier in
02:25:00terms of getting that covered,
02:25:02and every insurance policy
02:25:03is a little bit different.
02:25:05What I will say for cancer genetic
02:25:07testing is that the cost has gone down
02:25:10and there are some laboratories out
02:25:12there that will actually do even a
02:25:14full panel full comprehensive cancer
02:25:16panel for an out of pocket cost of $250,
02:25:19which I will.
02:25:20Which is not a small amount of money,
02:25:23however.
02:25:23Compared to how the cost
02:25:25was even seven years ago,
02:25:27it has gone down,
02:25:28which is good because there are some
02:25:31patients who testing for them is indicated,
02:25:33but their insurance will not
02:25:35cover either panel testing or
02:25:36will not cover testing at all
02:25:38because of certain requirements,
02:25:40but they are able to get the testing
02:25:42they need for an out of pocket cost
02:25:44that may be reasonable to them.
02:25:52Alright, it looks like that was
02:25:54all of the questions for right now,
02:25:56but I'm sure Amy would be happy
02:25:58to answer more if there are some later.
02:26:06And just about a minute until we start
02:26:09the second half of our. Of our day today.
02:26:16Alex, do you want me to pull my slides up?
02:26:19Yeah, why don't we do that?
02:26:28Since I have 400 things open.
02:26:33That was a good sign.
02:26:35Yeah, I guess except.
02:26:40Huh? Hold on one second.
02:26:42Let me try this again.
02:26:46No.
02:26:49Sorry my daughter was helping me
02:26:52do this last night and. Something
02:26:54got screwed up.
02:26:56That's alright, you have some time.
02:26:59Excellent.
02:27:05Sue
02:27:19OK, so hopefully you can
02:27:21see my slides, yeah? Looks good
02:27:24and hopefully only my slides and not
02:27:27my notes. I believe so. OK good.
02:27:33OK, Yep.
02:27:35And I'm good to go whenever you
02:27:37want me to start.
02:27:40OK, I think. Go on ahead. I appreciate it.
02:27:47OK so hi
02:27:49everyone, I'm Janice Berliner.
02:27:50I'm the director of the Master
02:27:52of Science and Genetic Counseling
02:27:54Training program at Bay Path University
02:27:56which is in Western Massachusetts
02:27:58and I thought
02:27:59before I tell you the things that
02:28:02you probably want to know about what
02:28:04to expect in Graduate School.
02:28:06I give you a 32nd bio of who
02:28:08I am and and how I got here.
02:28:10So I've been the program director
02:28:11at Bay Path for four years
02:28:14before which I was a clinical
02:28:15genetic counselor for 29 years.
02:28:17Nine and a half of which was in
02:28:19prenatal genetics with a little
02:28:21bit of Pediatrics thrown in,
02:28:22and then for 20 years I worked in cancer
02:28:24centers seeing patients for cancer
02:28:26risk assessment and genetic testing.
02:28:28Much like you've just heard
02:28:30about over those years,
02:28:31our fields changed a lot and grown a lot,
02:28:34and I learned a lot along the way as
02:28:36I'm sure you will when you begin your
02:28:38journey to become a genetic counselor,
02:28:40I had always wanted to be a program
02:28:42director and four years ago I
02:28:44finally made it work for myself,
02:28:46so I thought we would talk about some
02:28:48of the basics of what to expect.
02:28:49In a graduate program and genetic counselor.
02:28:53As you may know,
02:28:54there is an accreditation organization
02:28:56called the Accreditation Council
02:28:58for Genetic Counseling or a CGC.
02:29:01This organization was formed
02:29:02to accredit genetic counseling,
02:29:04training programs and it sets standards
02:29:06for all programs that they need to
02:29:07follow in order to be accredited.
02:29:11At the beginning and then
02:29:12subsequently throughout the years,
02:29:14they need to be reaccredited so they
02:29:15need to continue to prove over and over
02:29:18that they're meeting the requirements.
02:29:20Naturally, when you're applying to programs,
02:29:21you're going to want to be sure
02:29:23that the programs you're looking
02:29:24at are accredited by a CGC,
02:29:26and it will say that on their website.
02:29:27So if it doesn't say it on the website,
02:29:30you know to be a little bit cautious of that.
02:29:32I think it's pretty unusual for you
02:29:33to find anything like that because you
02:29:35know we all know what genetic counseling
02:29:37training programs are out there,
02:29:38and if there's something that's
02:29:39not accredited, it's it's.
02:29:41Not going to stick around.
02:29:43But due to these accreditation
02:29:45standards, all programs must
02:29:46provide a certain things and make
02:29:48sure that their students graduate
02:29:50with specific competencies.
02:29:52The three legs of the stool, so to speak,
02:29:54for all programs include coursework,
02:29:56field work and research in the form
02:29:59of a thesis or Capstone project.
02:30:02So let's start with the coursework. I realize
02:30:04that Bay path is not necessarily
02:30:06the same as every other program,
02:30:08and I can only speak to how we do things,
02:30:10but I'd be really surprised if they
02:30:12aren't all very similar in this regard.
02:30:14The main difference between our program and
02:30:16most others is the fact that ours is online,
02:30:18which means our lectures are mostly
02:30:20prerecorded and not presented synchronously
02:30:22with everyone in class together.
02:30:25Some of them are, but it's not the norm,
02:30:28and as I mentioned,
02:30:29each program must be accredited by a CGC,
02:30:31which means that.
02:30:32There are rules we must all
02:30:34follow and core competencies.
02:30:35We must make sure that our students
02:30:37achieve so every program will provide
02:30:40for you medical genetics courses,
02:30:42reproductive and cancer genetics
02:30:44courses in one form or another.
02:30:46Research courses that lead you
02:30:48through the process of writing
02:30:50a thesis or capstone project,
02:30:52and of course,
02:30:52clinical coursework that goes
02:30:54along with your field work.
02:30:55Rotations that will prepare you for and
02:30:57allow you to process and present cases
02:31:00to your supervisors and classmates.
02:31:02And become increasingly capable
02:31:04of seeing patients on your own.
02:31:07All of this is typically done within
02:31:09a framework of medical ethics, equity,
02:31:12diversity, inclusion, justice,
02:31:14and belonging in each course.
02:31:16I would expect that you would have
02:31:18a lecture accompanied by readings
02:31:20or videos and an assignment.
02:31:22Some
02:31:22assignments will involve role plays,
02:31:24standardized patients, or other ways
02:31:26to interact with their classmates,
02:31:27genetic counselors and other
02:31:29healthcare professionals to learn
02:31:30the skills you need to counsel
02:31:33appropriately and effectively.
02:31:34Other assignments may help you
02:31:35learn how to write a patient
02:31:36chart note or a summary letter,
02:31:38or research a specific disease to
02:31:39present to a patient or create
02:31:42educational materials for patients
02:31:44or healthcare professionals.
02:31:45Of course, you'll also be tested
02:31:47on your knowledge,
02:31:48and many programs will use test
02:31:50questions in the style of the
02:31:52board certification exam to get
02:31:53you used to the format and the
02:31:56pacing needed to pass the exam.
02:32:00Second, there's your clinical work again.
02:32:03Every program works differently,
02:32:04although there are core
02:32:05fundamentals that you must have.
02:32:08In general, you'll start out
02:32:09observing a genetic counselor,
02:32:11or several of them.
02:32:12You will likely be asked not to say
02:32:14anything during the session since
02:32:15your skills are not developed yet,
02:32:17but you will have the opportunity to
02:32:19learn not only the scientific material,
02:32:22but the nuances that the genetic counselors
02:32:24use in assessing the patients knowledge,
02:32:26interest, and receptivity to
02:32:28the information we find that.
02:32:30Not every patient is willing to hear
02:32:32that much and and some are in a
02:32:34fragile emotional state if say they
02:32:36or their child or fetus was recently
02:32:38diagnosed with a serious condition.
02:32:40So determining our patients medical
02:32:42literacy and ability to handle the
02:32:44information we're presenting may
02:32:46be the most important aspect of our
02:32:48jobs as GC's and that's one of the
02:32:51fundamental things you'll begin
02:32:52to learn in your observations,
02:32:54and they may ask you to draw a shadow
02:32:58pedigree while they're doing their cases.
02:33:00To see how your pedigree compares with
02:33:02theirs and that helps in your learning too.
02:33:05And then of course,
02:33:05as time goes by,
02:33:06you take on increasingly greater
02:33:08responsibility in cases until the
02:33:09final semester of your training,
02:33:11when you'd likely perform the
02:33:12whole session by yourself.
02:33:14With supervision
02:33:16in terms of
02:33:18content, every student must have
02:33:19what we call the big three rotations
02:33:22in prenatal Pediatrics and cancer.
02:33:24In a prenatal setting,
02:33:25you'll see patients who are
02:33:27pregnant or would like to be and
02:33:29have concerns about about their
02:33:31ability to have healthy children.
02:33:33This may be related to things like maternal
02:33:36age exposures to toxic substances,
02:33:38family histories of genetic conditions,
02:33:40abnormalities identified on ultrasound,
02:33:42or even a blood relationship
02:33:43between the patient and her partner.
02:33:46In a pediatric setting,
02:33:47you'll see children who have features
02:33:49that may be consistent with a genetic
02:33:51condition and need to be diagnosed.
02:33:52If that's possible,
02:33:53or you may see children who are
02:33:55diagnosed previously but are
02:33:56coming back for periodic follow up,
02:33:58you may even see newborns in the
02:34:01neonatal ICU who are suspected to
02:34:03have a condition that needs to be
02:34:05diagnosed so that treatment or surgery
02:34:07can be initiated in a cancer setting
02:34:09which you just heard all about.
02:34:11You now know that you'll see patients
02:34:12who have a personal and or family
02:34:15history of cancer who are hoping to
02:34:16find out if there's a hereditary.
02:34:18Component that that information
02:34:20of course can both guide treatment
02:34:22options and provide risk assessment
02:34:24for family members.
02:34:26It could even inform the patient if
02:34:28there are increased risks for more
02:34:30cancers than they've already had.
02:34:31Some programs like ours will not
02:34:33have you doing any rotations in
02:34:35your first semester,
02:34:36so that you can get used to Graduate School
02:34:38and knock out more of the academics.
02:34:39In the beginning,
02:34:40we start in the second semester,
02:34:42while some don't start until the summer.
02:34:45But in any program,
02:34:46these three clinic types are required
02:34:48to collect the cases you need to
02:34:51be eligible to sit for the board
02:34:53certification exam,
02:34:54but there are many other types
02:34:55of settings that you may have
02:34:56opportunities to rotate through,
02:34:58like cardio,
02:34:59genetics clinics or ophthalmology.
02:35:01Neurology or psychiatry you may
02:35:02even wish to do a rotation in a
02:35:05laboratory or other industry type
02:35:07setting or public health department
02:35:09or newborn screening lab.
02:35:11The Sky's the limit,
02:35:12really.
02:35:12If you have the time and if your
02:35:14program allows it,
02:35:15so again when you're researching programs,
02:35:17think about what might be important
02:35:19to you and ask the questions that
02:35:21will help you figure out what it is
02:35:22that you want to do and where would
02:35:24be the best place for you to do it.
02:35:28The third leg of the stool is
02:35:30your research project, and
02:35:31because I've always wondered
02:35:32this and thought you might too,
02:35:34I looked up the difference between
02:35:35a capstone project and a thesis.
02:35:37A capstone project attempts to
02:35:39address an issue in the field
02:35:41by applying existing knowledge
02:35:42towards a real life problem,
02:35:45whereas a thesis seeks to.
02:35:50To create new
02:35:51knowledge through student research,
02:35:54trying to prove or argue a hypothesis
02:35:56rather than just investigative topic. So
02:35:59each program has a research
02:36:00component that is required,
02:36:03but which type of component varies
02:36:05and of course is something else you
02:36:07may wish to research ahead of time.
02:36:09Most programs, I believe,
02:36:10are like ours with a research course first
02:36:13that helps you understand the process.
02:36:15The difference between qualitative
02:36:17and quantitative research,
02:36:18and how to write a proposal.
02:36:20Then there are the capstone courses
02:36:22during which you apply for Institutional
02:36:24Review Board approval and do the
02:36:27data collection and write up.
02:36:28Most programs will encourage you,
02:36:30though they may not require you to
02:36:32present your research on campus
02:36:33and or submit it for presentation
02:36:35or publication to a professional
02:36:37organization such as the National
02:36:40Society of Genetic Counselors,
02:36:42the American Society of Human Genetics,
02:36:43American College of Medical Genetics,
02:36:45American Society of Clinical Oncology,
02:36:47or American College of Obstetrics and
02:36:49Gynecology. I could go on all day.
02:36:52But it's a really good opportunity to
02:36:55show the research that you've done and
02:36:57to kind of show the world what you're
02:37:00what kinds of research your program allows.
02:37:03So those are the required components,
02:37:05but most programs, if not all of them,
02:37:07also have supplemental activities
02:37:09that you can potentially engage in,
02:37:11as there are so many other areas
02:37:13from which students can learn,
02:37:14they may be required in some programs
02:37:16and voluntary or absent in others,
02:37:18so these may include things like book groups,
02:37:21journal clubs,
02:37:22guest speakers,
02:37:23webinars provided by outside organizations
02:37:26like commercial Genetics Labs.
02:37:28You could join some special interest groups
02:37:31by becoming a student member of an SGC.
02:37:35You can also request extra or
02:37:37different field work rotations to
02:37:39expand your knowledge and experience.
02:37:41Most program leadership members are
02:37:42very open to suggestions for these
02:37:45kinds of supplemental activities,
02:37:46so you want to be creative and
02:37:48ask for what you want.
02:37:50You will likely be pleasantly surprised.
02:37:52I'll give you an example.
02:37:53We've had a few students
02:37:54over the years who said,
02:37:55you know,
02:37:56I really want to do psychiatric
02:37:58genetic counseling,
02:37:59and that's a really difficult thing to find.
02:38:00There are just not a lot of psychiatric
02:38:02genetics clinics in the country.
02:38:03And that's probably largely because
02:38:05the genes for psychiatric illnesses
02:38:08haven't been discovered cloned.
02:38:10You know, tests made available for them,
02:38:12and so it's it's all counseling.
02:38:15It's it's no genetic testing,
02:38:17but we've had students who've
02:38:19gone out to Vancouver for a few
02:38:21weeks to the 1st and to date one
02:38:24of very few psychiatric genetic
02:38:26counseling clinics in the world.
02:38:29So you know there are.
02:38:31There are other kinds of things
02:38:32you can apply for lab rotations,
02:38:34and you know,
02:38:35I know in our program our
02:38:36students are required to do 30
02:38:38day rotations in a semester,
02:38:39but if they really want to do,
02:38:41let's say, cardiac genetics,
02:38:42then we can shave it down a little bit
02:38:45so they can do 20 minute to 20 minutes.
02:38:4820 days in a Cancer Center and then the
02:38:50other 10 days in the cardiac clinic.
02:38:52Things like that.
02:38:53So again,
02:38:54if you want something, ask for it.
02:38:56They may very well be able
02:38:57to accommodate your request.
02:39:01And then the last thing I
02:39:02really wanted to touch on is the very deep
02:39:05emotional components of our profession
02:39:07and the rigors of training for it.
02:39:09And because of all of that,
02:39:10we feel it's really important to care
02:39:12for yourself as it always is in life.
02:39:14So as part of a training program,
02:39:16whether it's actually embedded in the
02:39:18program or something that you do on your own,
02:39:20we feel that self care is very important.
02:39:23It's easy to get kind of pulled under,
02:39:25sometimes by again the emotions
02:39:26of our sessions with patients.
02:39:28You're stress regarding coursework
02:39:30or rotations.
02:39:31Interactions with classmates
02:39:32and colleagues so.
02:39:35It's it's an important
02:39:37thing to take care of yourself as it
02:39:38always is, and it can take many forms.
02:39:40Of course, maybe your thing
02:39:41is to meditate or do yoga,
02:39:43cook or be with family and friends.
02:39:45Some programs build it in and
02:39:47some will expect you to care
02:39:49for yourself and your own way.
02:39:50And in your own time.
02:39:52I know in our program,
02:39:53especially because it's online and our
02:39:55students are not physically together,
02:39:56they have created movie nights at game
02:39:58nights and other kinds of social events.
02:40:00And when we do have our students
02:40:02together on campus once or twice a year,
02:40:04we always build in some time for
02:40:06socializing and decompression.
02:40:08But of course that involves the
02:40:09students being with each other and
02:40:11sometimes self care requires you to
02:40:12be alone or to be with people who are
02:40:14completely disconnected from the pieces
02:40:16of your lives that are creating the stress.
02:40:19What you do is not as important
02:40:20as the fact that you're doing it,
02:40:22and we feel strongly that this should
02:40:23be part of everyone's Graduate School.
02:40:25Experience and in fact when we
02:40:27interview students or applicants,
02:40:30we ask them what kinds of
02:40:32self care they engage in.
02:40:34So something to think about.
02:40:36I'm not saying that other
02:40:37programs ask that question,
02:40:38but it's probably a good thing to
02:40:40have in your pocket if they ask you
02:40:41how do you take care of yourself?
02:40:43You want to have some kind of answer and
02:40:46hopefully it'll be actually something
02:40:47that you practice on a regular basis.
02:40:50So that's what I wanted you
02:40:51to know about what to
02:40:52expect in Graduate School.
02:40:53I hope you will feel free to
02:40:55reach out to me at anytime with
02:40:57questions about genetic counseling,
02:40:58training programs in general,
02:41:00or Bay Pass program in particular.
02:41:03And I welcome your questions.
02:41:07Janice thought was great and I love the
02:41:09self care bingo to
02:41:12feel that for me. You
02:41:13find any graphic online.
02:41:18But I know that there were
02:41:19a couple of questions that
02:41:20have popped up in the
02:41:21first half of the session.
02:41:22I think I'll wait to ask them until
02:41:24Maria has given her talk and then
02:41:26maybe you 2 can address them in tandem.
02:41:30So I'm going to switch it over then to.
02:41:35Maria, let's see here. Perfect.
02:41:45All right, let
02:41:46me see my screen.
02:41:51Great. Alright. So hi everyone,
02:41:56thanks for coming and sticking
02:41:58with us through the afternoon.
02:42:00My name is Maria Geyer.
02:42:01I am the program director for the
02:42:03UConn genetic counseling program
02:42:05as well as some other graduate
02:42:07programs within the UConn family.
02:42:09So I wanted to chat with you a little
02:42:11bit today about applying to programs
02:42:13and how to strengthen your application.
02:42:15It can be quite an intimidating process,
02:42:17as some of you may have already experienced,
02:42:19so I kind of wanted to go through a
02:42:21few steps and how to start that and
02:42:22some of the questions that you might
02:42:24want to ask yourself as you're thinking
02:42:26about what programs to apply to.
02:42:29So step one of this process is
02:42:31to know yourself.
02:42:32You know genetic counseling has
02:42:34lots to offer in terms of a career
02:42:37in terms of kind of a life choice,
02:42:39but you want to make sure that
02:42:40that choice is right for you.
02:42:41So really take some time to reflect
02:42:43on what's important to you,
02:42:44what you know, what makes you tick,
02:42:46and what do you think will be
02:42:48fulfilling in in a career in general.
02:42:49And sometimes the best way to do
02:42:51this is to talk to people you know.
02:42:53Being here today is a great is
02:42:56a great start and I think you.
02:42:58Probably now met some folks that
02:43:00you could reach out to to question
02:43:02and ask and maybe have conversations
02:43:04about the career,
02:43:05but that's really a good starting
02:43:07point is to kind of do your due
02:43:09diligence in terms of what you as a
02:43:11potential applicant are looking for.
02:43:15So Step 2,
02:43:16so once you kind of determine that and
02:43:17that this is the right step for you,
02:43:19is to know the programs.
02:43:20So as you've heard,
02:43:22there are many programs throughout
02:43:24the country and Canada,
02:43:25and although they're very similar in
02:43:27the fact that they're held to specific
02:43:29standards by our accreditation agency,
02:43:32you know many programs have
02:43:34their own strengths or niches.
02:43:36You know,
02:43:37some really stress psychosocial skills.
02:43:39For example,
02:43:39you know some are really big
02:43:41on research or technology,
02:43:43or you know it might be important
02:43:44to think about the types and
02:43:46amounts of clinical exposure that.
02:43:47That each program has to offer you know
02:43:50what are the patient populations based
02:43:52on where you are or where you would be.
02:43:54So I encourage you to do
02:43:56your homework around that.
02:43:57There's a lot of different
02:43:58ways to choose programs and and
02:44:00we're going to talk about that,
02:44:01but just know that not all programs
02:44:03are created equal in terms of what they
02:44:06want to emphasize to their students.
02:44:10So when you're at the phase of wanting
02:44:12to select a program, what do you do?
02:44:14So?
02:44:14There's lots and lots and lots of
02:44:16different things that are important
02:44:18and things that go into the formula
02:44:20of what makes somebody want to
02:44:21apply to a particular program.
02:44:23So these are just some things
02:44:25on the left that
02:44:26could be questions or checkboxes
02:44:28for you to think about,
02:44:29or things that could be important to someone.
02:44:32So first is education delivery.
02:44:34You know there are different
02:44:36types of programs in terms of
02:44:38whether they're face to face.
02:44:40Whether they're completely online,
02:44:42do they have a hybrid modality?
02:44:44So that might mean you you go to
02:44:46campus sometimes, but not all the time.
02:44:49And and how does that play into class size?
02:44:51Like? Are you someone who likes to
02:44:52be part of a of a larger group,
02:44:54or do you like a smaller class size?
02:44:56I mean, I had three classmates
02:44:58when I went to Graduate School,
02:44:59so it's very different than some of the
02:45:02class sizes that are out there today
02:45:04with 2224 upwards of 30 students per cohort.
02:45:07So is that?
02:45:08Is that a deal breaker for you,
02:45:09or is that something that
02:45:10makes you gravitate toward?
02:45:11Away from a program.
02:45:14Cost is important,
02:45:15so tuition and fees obviously
02:45:16plays a big role into which
02:45:19programs you might want to select.
02:45:21Are there scholarships that are available
02:45:23to help alleviate some of those costs?
02:45:25What is the cost of living within a
02:45:27program and and where it's located?
02:45:29You know this can be a huge deterrent
02:45:34and attraction based on whatever your
02:45:37particular financial situation is,
02:45:39but it's important and tuition
02:45:41and fees potential.
02:45:43Scholarship availability are things
02:45:44that a program might have online
02:45:47so that you can kind of do your
02:45:49your homework and your research by
02:45:50going to each of the websites of the
02:45:52programs that are of interest to you.
02:45:54You should be able to glean some
02:45:56really good information regarding
02:45:57cost straight from their website.
02:45:59Location is important,
02:46:01so similar to cost it,
02:46:03it tends to be a biggie in terms of
02:46:06why applicants choose particular programs.
02:46:08You know,
02:46:09maybe you're someone who you know
02:46:10likes a a more urban setting or more
02:46:13suburban setting or very rural.
02:46:14There are programs that kind of check
02:46:16all of those boxes in different
02:46:19places you know.
02:46:19Do you need a program that's close
02:46:21to family or friends for whether
02:46:24it be support systems or for living
02:46:28arrangements?
02:46:29Do you have to travel for field?
02:46:30Or, you know,
02:46:31is that kind of within the bounds
02:46:33of public transportation?
02:46:35Or do you need to have a car for campus?
02:46:38So these are all questions that
02:46:40are logistically important and
02:46:42necessary to consider when you're
02:46:43thinking about a program.
02:46:45I will kind of put a plug in here for yes,
02:46:49location is important,
02:46:50but if a program Member asks,
02:46:51you know why you chose them as a
02:46:53program over others like please,
02:46:55please,
02:46:55please,
02:46:55don't ever say us because my aunt
02:46:57lives here and I want to be close to
02:46:59family or I just always wanted to
02:47:00move to Boston or things like that.
02:47:02So while they're important,
02:47:03they tend to be your personal reasons,
02:47:05so make sure that that you can
02:47:06make your choice accordingly,
02:47:08but but also relay that appropriately.
02:47:11Faculty are important,
02:47:13so you know who's going to be your
02:47:16instructors and and who's going to be your
02:47:19mentors and advisors are very important,
02:47:21and while you might not know who they
02:47:24are specifically, before you get there,
02:47:25you know it can be important to research.
02:47:28What is the faculty to student ratio you know
02:47:30is the class so big that you don't get a
02:47:33lot of engagement from your faculty members?
02:47:35Or is the class you know so small that
02:47:37you're hearing from them all the time?
02:47:39It's all this comes kind of down to personal.
02:47:41Preference and what you feel like.
02:47:43You need to be successful
02:47:46in your graduate education.
02:47:48Affiliations are also important,
02:47:50so these are collaborators that that your GC
02:47:54programs will have made relationships with,
02:47:58and these can include other
02:48:00universities or colleges.
02:48:02Are they part of a a medical school?
02:48:04Are they part of the
02:48:05university based hospital?
02:48:06Are there international partnerships
02:48:08so there may be some places that
02:48:10you're hoping to train or hoping
02:48:12to get some exposure to particular
02:48:14industry partners or laboratories.
02:48:16So it's important to look at.
02:48:19The different collaborators that programs
02:48:21have and the different affiliations
02:48:23and and where you'll where you rotate.
02:48:24So that kind of brings me
02:48:26to training opportunities.
02:48:27You know, while while Janice
02:48:29talked about having you know,
02:48:31kind of the big three rotation of PEDs,
02:48:33prenatal and cancer.
02:48:35You know where?
02:48:36What does that look like within each program?
02:48:38Are you going to get all of your education?
02:48:40Kind of within one university based
02:48:42hospital that they have their tentacles
02:48:44out larger where you can experience
02:48:47different patient populations.
02:48:48There are different hospitals and specific
02:48:51clinics and there are specialties.
02:48:53Do you get exposure to something like
02:48:55advocacy or community outreach or?
02:48:57Maybe public health is really
02:48:59important to you,
02:49:00so there's there could be a lot to
02:49:01unpack in the training opportunities.
02:49:03And again, this is.
02:49:04This all comes down to what
02:49:06you want out of a program,
02:49:07so as much as they would be.
02:49:09You know,
02:49:10interviewing you and asking you questions.
02:49:13These are the questions you want
02:49:14to ask of a program and kind of to
02:49:16yourself before you get there to make
02:49:17sure that that program would be a
02:49:19good fit should you match with them.
02:49:23So once you kind of have your
02:49:24list of programs that may fit your needs and.
02:49:29I've seen a plethora of lists from students.
02:49:30I've created my own.
02:49:32They can look like very elaborate
02:49:34spreadsheets, sometimes in terms of.
02:49:38Prerequisites, and then where
02:49:40they're located and how much
02:49:41they cost and things like that.
02:49:42So whatever is important to you,
02:49:43make sure to put that on your list.
02:49:45But the ways that you can
02:49:46explore programs can vary,
02:49:48so you can first review websites,
02:49:50and I think that's a great
02:49:52place for everybody to start.
02:49:53I put the website here for the accreditation
02:49:56agency that lists the program directory,
02:49:58so you can kind of look by state for who is
02:50:02currently accredited and accepting students.
02:50:05You can visit campuses and I
02:50:07understand that during COVID obviously
02:50:09sometimes this makes it difficult,
02:50:11but you can always have a virtual tour
02:50:13or virtual visit emails and reaching out
02:50:16to program directors and other faculty
02:50:18and program leadership is helpful.
02:50:20So if you can explore the area if it's a
02:50:23new town just to kind of get a feel for
02:50:25for whether you like that type of a setting.
02:50:28I completely understand that this
02:50:30is could be very cost prohibitive,
02:50:32but I think once you narrow
02:50:34your list down to to just a few.
02:50:36Visiting and exploring a
02:50:38campus in itself is worthwhile.
02:50:41Engaging students and alumni.
02:50:43So again,
02:50:44some of the most important information
02:50:46you can glean from this process could
02:50:48be to speak to current students,
02:50:50and many programs will have
02:50:51a student representative.
02:50:52Generally a second year student who
02:50:54you know has already gone through
02:50:56the program for the first year who
02:50:58has been able to develop an opinion
02:50:59on on some of the pros and the cons,
02:51:01and what would they do differently
02:51:03and how happy they are.
02:51:04And generally these conversations
02:51:05could be very, very helpful,
02:51:07so I encourage you to reach out
02:51:09to to students or or.
02:51:11Folks who have graduated from a program
02:51:13and asked them their experience.
02:51:15So the last little bucket here
02:51:17is to ask questions,
02:51:18and you know these are some of
02:51:19the questions that you might want
02:51:21to ask a program to help give you
02:51:22the information that might help
02:51:23you make a more informed decision.
02:51:25So for example,
02:51:26what do programs emphasize in terms
02:51:29of educational content and delivery?
02:51:31So this is kind of like what makes
02:51:32your program special,
02:51:33and then how do you disseminate
02:51:35that information to students?
02:51:36Is it all online?
02:51:38Is it is a kind of hand holding?
02:51:40Is it throw you in the deep end?
02:51:41You know you could get a variety
02:51:43of answers here,
02:51:44but I think all of it.
02:51:45Be very,
02:51:46very important and you know
02:51:48obviously you want to know what
02:51:49the strengths of the program are.
02:51:50What are their kind of
02:51:52accolades and accomplishments?
02:51:53And I think that's important to
02:51:55be able to consider in making your
02:51:58decision of how what a program's
02:51:59been able to do with their time
02:52:02while they've they've been a program so.
02:52:04OK, so step three is to know the process of
02:52:07the application and there's quite a process.
02:52:10So while most programs are similar
02:52:13in terms of their requirements,
02:52:15they're not all the same.
02:52:16Some require one semester of organic
02:52:19chemistry, and some might require 2,
02:52:22and you know, so this is again where
02:52:24your spreadsheet might come in handy.
02:52:25If you have created one to kind of list out
02:52:28what the prereqs are for for coursework.
02:52:31Timing for applications is important because
02:52:34the deadline for submission for applications
02:52:36is not the same throughout each program,
02:52:39so some may have a deadline of
02:52:42November 30th or December 15th
02:52:44or January 1st or February 1st.
02:52:47So we really can go throughout
02:52:48that whole winter time,
02:52:49so make sure you are well aware
02:52:52of what your timelines are.
02:52:54So applying to more than one program,
02:52:56I put that here feels ironic to
02:52:58say because I only applied to 1
02:53:00program and I got into my program,
02:53:02but that is not the norm.
02:53:05I think some of the studies show that
02:53:08people who apply to four or more programs
02:53:11are statistically significantly more
02:53:13likely to gain entrance into a program
02:53:15than if you applied to one or two,
02:53:17which which makes sense,
02:53:18but so I think in terms of how
02:53:21many programs to apply to there's.
02:53:23You know,
02:53:24there's things to consider in terms
02:53:26of of cost and time and effort
02:53:28and letters of recommendation
02:53:29and and all of that goes into it.
02:53:32But I think the the typical applicant will
02:53:35apply to a few at least a few programs.
02:53:39And now with with interviews being virtual,
02:53:41that does help with cost.
02:53:44It used to be that you'd have to fly
02:53:46everywhere to go to your interview and
02:53:48or find a hotel or stay with a student,
02:53:50make arrangements,
02:53:51take time off of work, things like that.
02:53:53So I will say that you know one of the
02:53:57only benefits to COVID is that it has
02:54:00made interview the interview process
02:54:02more accessible to more applicants.
02:54:05So we chatted about cost a little
02:54:06bit so there are costs associated
02:54:08simply with applying to programs.
02:54:10You have the match fee,
02:54:11so I don't think we really
02:54:13touched on the match yet,
02:54:14but it is something that all genetic
02:54:17counseling applicants will have
02:54:19to do is register with the match,
02:54:21and I think the match is about $100.
02:54:23Some programs do have waivers
02:54:25for for fees for applications.
02:54:28I think that the match system has an Ms,
02:54:30has potential waivers for for
02:54:33fees for the match as well, so.
02:54:35Be able to investigate where those
02:54:39incentives or alleviations might be.
02:54:42And again,
02:54:43interview expenses can be can be
02:54:44costly if you have to travel there,
02:54:46so so it's a process,
02:54:48so understand it's a process and we we
02:54:50all as directors understand it's the
02:54:53process and and do have empathy for that.
02:54:56So this is a very busy slide.
02:54:58It has lots and lots of words on it about
02:55:00application requirements.
02:55:01The important thing to know is that
02:55:03this is not an exhaustive list,
02:55:05so there is lots and lots and lots
02:55:06to do when it comes to an actual
02:55:08application and things to consider.
02:55:10So do you have all of your prereqs
02:55:12and order by the time that you apply,
02:55:14know that for some programs you
02:55:16have to have all of your prereqs
02:55:18on a transcript prior to submitting
02:55:20your application or it has to be
02:55:22prior to the interview process.
02:55:23So there are different timelines
02:55:25even for things like that.
02:55:27One caveat to note is AP courses,
02:55:29and in general if you took,
02:55:31you know a psychology and high school
02:55:34and got credit for it and didn't
02:55:36take a psychology and undergraduate,
02:55:38then it generally won't fulfill the
02:55:40requirement for Graduate School to
02:55:43have to have that level of psychology.
02:55:45So I get this question from students a lot.
02:55:47And again,
02:55:48every program is different in terms
02:55:50of the decisions that they make,
02:55:52so this is all general information.
02:55:54So typically AP courses won't be accepted.
02:55:57Fulfilled prereqs for GC school.
02:56:01The GRE the GRE is becoming a little bit
02:56:04less and less required from programs,
02:56:07So what I've seen in the past few years
02:56:09is a shift where in the past every
02:56:12single program requires the GRE's to,
02:56:14you know,
02:56:14just a couple were outliers where
02:56:16they didn't require the GRE.
02:56:18So if you were going to apply
02:56:19to multiple programs,
02:56:20you kind of had to take the GRE because
02:56:22chances are you know at least one
02:56:24or two of your your programs would
02:56:26require that that's not becoming the case,
02:56:28so I definitely encourage you to look at
02:56:30that piece of the application process.
02:56:32The requirement within the programs
02:56:34that you're considering because now
02:56:36it does vary quite widely in the
02:56:38terms of the numbers of programs that
02:56:40are no longer requiring the GRE.
02:56:42Language language requirements
02:56:44are are still fairly standard,
02:56:47so English is your second language.
02:56:49There are going to be requirements
02:56:51based on school in terms of
02:56:53what they will accept for,
02:56:55you know,
02:56:56sample total scores or or writing
02:56:58assignment things like that.
02:57:00They may differ from university
02:57:01to university,
02:57:02but they generally will have some
02:57:04type of language requirement.
02:57:06You're going to have to submit transcripts.
02:57:08I'm going to have to submit your GPA.
02:57:10I have some shameless plugs in here
02:57:12of the clinical genetics and genomics
02:57:14certificate that I run at UConn,
02:57:16as well as the clinical communication
02:57:18and counseling certificate
02:57:19that I run at UConn as well.
02:57:20These are a set of of courses
02:57:22which can gain you a graduate
02:57:24certificate in these areas,
02:57:25which a lot of students join
02:57:28and apply to these programs in
02:57:30order to boost their GPA so.
02:57:33I tend to get the question of like
02:57:34what is the golden number for GPA
02:57:36and what do I have to do and this
02:57:39varies widely for for programs as
02:57:41well some will come out and say
02:57:44what they will and will not accept for GPA.
02:57:46Some are a little more ambiguous
02:57:49and some programs are moving to a
02:57:51more holistic space of not relying
02:57:53as much on GPA as they are trying to
02:57:56look at the applicant as a whole.
02:57:58So, but for people who are interested in,
02:58:01you know taking more graduate level.
02:58:03Courses which are related to
02:58:05clinical genetics specifically or
02:58:07the psychosocial piece which is
02:58:09the communication certificate.
02:58:11You know, these two certificate programs
02:58:13are available through UConn and and many
02:58:16students go on to genetic counseling.
02:58:18Graduate schools from these programs.
02:58:20Letters of recommendation.
02:58:22Usually it's about 3.
02:58:25You want to kind of have the trifecta
02:58:27of letters of recommendation so you
02:58:28know you want to have someone from
02:58:30academics who can speak to your
02:58:32academic prowess and your potential
02:58:34for success in a graduate program.
02:58:36You know if you've done a research
02:58:38in undergrad or as a position
02:58:40that you hold right now.
02:58:41Research is a good letter of
02:58:44recommendation from a Pi.
02:58:46I have folks who have advocacy and
02:58:49outreach experience so kind of the
02:58:51counseling portion of the genetic
02:58:54counseling hat that's a good another
02:58:56base for the triangle there to have you
02:58:58want to have basically a well rounded
02:59:00list of letters of recommendation.
02:59:03Do not ask family.
02:59:04Do not ask friends.
02:59:06Do not ask peers really to assess you
02:59:08and give you a letter of recommendation.
02:59:11It's not as professional looking.
02:59:13It doesn't carry as much weight and
02:59:14you want to make sure you really only
02:59:16get like those two or three letters
02:59:18you want to make sure they are from
02:59:19folks who can really speak the language
02:59:22that graduate programs need to hear
02:59:25and say the things that they need to say.
02:59:27A personal statement.
02:59:28So I get a lot of questions about personal
02:59:30statements and a lot of students who
02:59:31are looking for assistance with this.
02:59:33You know this can be your time to shine.
02:59:35This can be your opportunity to be
02:59:39able to say what it is that makes
02:59:41you different from other applicants.
02:59:43So please,
02:59:43please please take this very seriously.
02:59:45Don't challenge yourself to write
02:59:47it in a weekend.
02:59:47You should be going through
02:59:49multiple drafts of this.
02:59:51You should be going to a writing
02:59:53center if you have access to one at
02:59:55your current university, if not there.
02:59:58Are actually places online that
03:00:00you can send your statement to to
03:00:02get edited to have questions asked
03:00:04to help you with rewrites,
03:00:06so I encourage you to really,
03:00:08really really take the personal
03:00:10statement piece pretty seriously
03:00:12because that can be what sets
03:00:14you apart from somebody else's
03:00:15volunteer experience is important.
03:00:18They want to see that you've had
03:00:21experience putting on that psychosocial hat.
03:00:24Crisis counseling is very common
03:00:25for applicants to have for
03:00:27bereavement counseling.
03:00:28Support groups working with
03:00:30the disability community.
03:00:31All types of these things that
03:00:33could be local to you or they
03:00:35could be virtual now in times of
03:00:37COVID. Basically what you want in your
03:00:39application to show All in all is that
03:00:42you've done your due diligence in terms of
03:00:44investigating the profession and knowing
03:00:46that this is the right fit for you.
03:00:48So everything that you do you do with
03:00:51a purpose and you know shadowing or
03:00:54interviewing genetic counselors is wonderful.
03:00:57It's not required.
03:00:59Shadowing is becoming increasingly
03:01:01impossible to find in times of COVID,
03:01:04so just please don't be discouraged
03:01:06if you don't have a shadowing.
03:01:08Experience prior to application.
03:01:11We as programs understand that it's very
03:01:13difficult to get that type of experience.
03:01:16There are other ways of kind
03:01:18of seeking that information.
03:01:19You could call a genetic counselor and
03:01:21try to interview them or talk to them.
03:01:23There is a master genetic counselor
03:01:25series which is a set of videos that
03:01:27are free to watch through the National
03:01:29Society of Genetic Counselors and SGC.
03:01:31Which shows examples of different
03:01:33genetic counseling settings,
03:01:35it's role play, you know,
03:01:37through with actors and actual
03:01:38genetic counselors so you can see
03:01:40what an actual session looks like.
03:01:42They have prenatal and cancer
03:01:44and PEDs I think, but or can't.
03:01:46Yeah they have all three.
03:01:48But they're about 1/2 an hour piece
03:01:49and they get digested afterwards.
03:01:51For for questions and things like that.
03:01:53And it's really a great.
03:01:54Another great way to to kind of get
03:01:56some of that experience all right.
03:01:59So one of the last steps here you're
03:02:00going to listen to my daughter.
03:02:02There's a picture of my dad.
03:02:03He's holding my son that's Nicholas and
03:02:05my dad always said if the jobs worth doing,
03:02:07it's worth doing right.
03:02:09So that means if you're going to go
03:02:11through this process and it is a process,
03:02:13it's big and it's overwhelming at
03:02:14times that you want to put your
03:02:16whole everything into it, OK?
03:02:18So you're going to do your best when
03:02:20it comes to that personal statement.
03:02:22You're going to make sure you check
03:02:24off the boxes for prereqs well
03:02:25before you have that application,
03:02:27you're going to make sure that if you
03:02:29don't have volunteer experience that
03:02:30you're not doing it just a month or two
03:02:32right before your application process,
03:02:34you have to show them that you're
03:02:36really invested in in this career path,
03:02:38so no half assing everything.
03:02:41Do everything to your best of your ability
03:02:43and it will show in your application.
03:02:46Those are words from my dad.
03:02:47So lastly, I'll leave you with some
03:02:50helpful information this relates to.
03:02:51I think I saw a couple of questions about
03:02:52this, potentially taking a gap year.
03:02:55So for some students they feel like it's
03:02:57looked upon negatively to have a gap year.
03:02:59I'm here to tell you that it is absolutely
03:03:01not looked down upon to have a gap year.
03:03:03You know, for students who
03:03:04take that gap year or longer,
03:03:06it took longer.
03:03:07You know that means you might actually
03:03:09be in a professional setting,
03:03:11so you're gaining professionalism.
03:03:13You're gaining experience in the field
03:03:15if it's related. Hopefully it's related.
03:03:17You know you're saving money so that
03:03:19finances don't become such a burden.
03:03:21You know you're doing what you need
03:03:23to do to prepare for grad school,
03:03:25so taking a gap year not a bad thing at all.
03:03:28If you go through this process and you don't
03:03:31match, it is disheartening, obviously,
03:03:34and disappointing to have that happen,
03:03:37but you are not alone.
03:03:38This is very common.
03:03:39There are many, many,
03:03:40many applicants for not a lot of spots.
03:03:43So if you're not accepted, please please,
03:03:45please reach out to the programs that you
03:03:47wanted to match with and get feedback.
03:03:50You may think I didn't get in
03:03:52because I didn't have a great GPA,
03:03:54but maybe it had nothing to do with it
03:03:56and it was the fact that you didn't
03:03:58have enough volunteer experience.
03:03:59Or your professional or your personal
03:04:01statement just wasn't up to par, you know?
03:04:03So just please seek feedback so
03:04:05that if you decide to do this again,
03:04:07you can work and make make the
03:04:09right strides to to get in.
03:04:12Contact programs to make sure you're
03:04:13fulfilling their requirements,
03:04:14so if there's ever a question when
03:04:16you're going through the application
03:04:17process of like ooh,
03:04:18I don't know if this is going
03:04:19to count or not.
03:04:20Don't just wing it because it
03:04:22might not count.
03:04:23Please feel free to contact programs.
03:04:25There are folks who can answer those
03:04:27types of questions very quickly,
03:04:29so you'd have to kick yourself
03:04:30later for being like, oh,
03:04:31I just didn't know that.
03:04:33And again,
03:04:34familiarize yourself with the profession.
03:04:36So this is you doing your homework
03:04:37and doing your due diligence.
03:04:38You know, review the NSGC code of ethics,
03:04:40the position statements that they put out,
03:04:43the policy statements that are written,
03:04:44be able to have an intelligent
03:04:46conversation about some of those things,
03:04:48should they come up in an interview,
03:04:50or when you're talking to a genetic
03:04:52counselor while you're interviewing them.
03:04:53Read the genetic counseling
03:04:54literature so lots of things come
03:04:56out about genetics right now,
03:04:58and it's very important to kind of
03:05:00stay abreast of that and that actually
03:05:02shows that you're very passionate
03:05:04and invested in the profession.
03:05:06Again,
03:05:06the master genetic counselor
03:05:07videos at nsgc.org are free,
03:05:09and they're available, and they're wonderful,
03:05:11so I encourage you to do that.
03:05:14You can do this. It is hard.
03:05:16I know it's hard, it's a lot.
03:05:18There are a lot of pieces that go
03:05:20into this and it's a long process
03:05:22but stay positive,
03:05:23keep working hard and you'll
03:05:25make it happen eventually.
03:05:27So if you have questions,
03:05:29I'm available, that's my email.
03:05:31Feel free to reach out.
03:05:32I'm always happy to chat with
03:05:34students and potential students,
03:05:35applicants,
03:05:35whatever,
03:05:36and answer any questions that you
03:05:38might have about the process or
03:05:40programs and and so on and so forth.
03:05:42So so thanks for your time.
03:05:44I hope I didn't go too too long.
03:05:45I tried to speak very very
03:05:47fast and I'm happy
03:05:48to answer questions at the end.
03:05:51Thanks Maria, that was really inspirational.
03:05:54I feel like I'm ready to
03:05:56apply again round two,
03:05:59but I feel like your presentation
03:06:01was almost like an FAQ in itself,
03:06:04so I'm going to just switch
03:06:06it over to Olivia and Kim.
03:06:08I appreciate if you could
03:06:09stay around till the end,
03:06:10but of course you did provide your email,
03:06:13so let's get this show on the road.
03:06:17There we go.
03:06:29Let me just share my screen here.
03:06:38OK, can everyone see this?
03:06:42I think we're good.
03:06:43OK, great OK so I know we're
03:06:46short on time so I am Kim Freya.
03:06:50I am just recently graduated bapak
03:06:53the university this week so we're
03:06:55kind of here to talk to you a little
03:06:57bit about the the Graduate School
03:06:59experience and kind of what we went
03:07:02through in the last couple of years.
03:07:05And I'm Olivia, I just became a
03:07:07second year at Bay Path program.
03:07:10And like Kim said,
03:07:11we're just going to go over a
03:07:13little bit about our backgrounds,
03:07:14how we got into the program and
03:07:16any little advice that we can
03:07:18give to kind of help you guys.
03:07:20So let me just go on
03:07:23OK, so every genetic counseling
03:07:26student is definitely going to
03:07:28have their own unique background.
03:07:30Mine is a little different than I would say.
03:07:33Probably most of those that I've seen.
03:07:37My education background I
03:07:39completed my Bachelors of Science
03:07:40at University of Oklahoma.
03:07:42I worked on my bachelors for
03:07:44for over a decade because I was
03:07:46in the Air Force for 10 years.
03:07:48Active duty and I was taking classes.
03:07:50Kind of one or two at
03:07:52a time while I was also working full
03:07:54time in the military,
03:07:55I transitioned over into the reserve
03:07:58so that I could finish my bachelor's
03:08:00degree and then also apply and go
03:08:03through Graduate School so that
03:08:06particular piece I would say is.
03:08:08I'm very different than most students
03:08:10that I've I've met and experienced.
03:08:14Not many have gone through a
03:08:16military background as follows.
03:08:18As far as volunteer goes in my
03:08:21work as a an Air Force member,
03:08:23I did a lot of crisis intervention
03:08:25counseling as a as part of my job,
03:08:28but I also did suicide intervention training,
03:08:31so I was.
03:08:32I'm actually a trainer that that
03:08:34does that program to teach others
03:08:37about suicide intervention.
03:08:39So that's another.
03:08:40Different kind of volunteer experience,
03:08:43so I don't really have a very
03:08:45typical background as a student,
03:08:47that's you know,
03:08:48applying to a genetic counseling program,
03:08:50but.
03:08:54So, like Kim was
03:08:55saying, is actually a great example.
03:08:57My backgrounds are very different from Kim,
03:08:59so I have a Bachelors of Science and a
03:09:02Masters of Science and infectious disease
03:09:04from the University of Saint Joseph's
03:09:06kind of in between getting those degrees,
03:09:09I worked as a cancer clinical research
03:09:12coordinator, so I was enrolling
03:09:14patients on to clinical trials.
03:09:17I kind of focused on the Memorial Sloan
03:09:19Kettering impact study and the GRAIL.
03:09:22Money which developed the new cancer
03:09:24screening blood test called Gallery and
03:09:27after that I did a medical scribe position
03:09:30at an asthma allergy place when I was there.
03:09:34I actually got accepted into PA school
03:09:37and did go but I found out while I
03:09:41was there it really wasn't for me.
03:09:42So that was like a big kind of
03:09:44twist in my journey that I would say
03:09:47that it wasn't expecting.
03:09:48So I actually took a gap year and.
03:09:52Kind of wanted to just really look
03:09:54over my experiences and kind of figure
03:09:57out what I wanted as a career who I
03:10:00was just kind of about my future.
03:10:02So I kind of was looking back when
03:10:03I was a researcher and I remembered
03:10:05my interactions with the genetic
03:10:07counselor and I really didn't know
03:10:09anything about genetic counseling.
03:10:10I never even heard about it,
03:10:12so I kind of did a deep dive into
03:10:14the profession and I just kind
03:10:16of fell in love with it.
03:10:18So I decided to volunteer as a genetic
03:10:20counseling assistant at a maternal fetal.
03:10:22Medicine and kind of really got to
03:10:24learn the role of the genetic counselor
03:10:27and really just could see myself
03:10:29doing this for the rest of my career.
03:10:32So I decided to kind of build up my resume
03:10:36so that I could apply and it was like I said,
03:10:39my gap year.
03:10:40So I kind of wanted to do something that was.
03:10:43Inch of interest of me.
03:10:44Something that I've always wanted
03:10:46to do and that that I had the time
03:10:48I decided to volunteer at at a
03:10:51equine assisted therapy program.
03:10:53And I'm a lifetime horseback rider,
03:10:55so it was really just a passion of mine
03:10:57and I decided to really help those we
03:10:59were doing frontline workers at the
03:11:01time during the pandemic and we also
03:11:03did veterans and children with autism
03:11:05or other disabilities so they would
03:11:07take us on trail rides and we would
03:11:09just teach them about horsemanship.
03:11:11So it was just something that I really.
03:11:13Was passionate about and UM,
03:11:16while during the pandemic.
03:11:17I also decided to do like a
03:11:19virtual teaching program,
03:11:20so I taught immigrants and refugees.
03:11:24English as a second language,
03:11:25which was brand new to me.
03:11:27It was very challenging,
03:11:28but I really loved it and kind
03:11:31of just what Kim was saying.
03:11:33These were things that I was
03:11:34passionate about and I like thought
03:11:36they would look good on my resume,
03:11:38but that really wasn't why I was doing it.
03:11:41So I would just kind of encourage
03:11:42you guys to
03:11:42do things that you really passionate about.
03:11:44Have like a really good interest
03:11:46in and that kind of makes you
03:11:49unique in your application.
03:11:50So that's just what I
03:11:51wanted to say about that.
03:11:53And that's pretty much my background.
03:11:55So Kim and me wanted to just do another
03:11:58slide about, you know advice for
03:12:00you guys getting into the program.
03:12:01And during the program,
03:12:03so I'll let Kim take over.
03:12:05Yeah so.
03:12:08I mean, graduate schools definitely
03:12:09not for the faint of heart.
03:12:11I don't think it really matters.
03:12:12Kind of what degree you end up going
03:12:15into with with like getting into higher
03:12:17levels of education Graduate School PHD's,
03:12:20it's going to be a lot of work.
03:12:23It's going to take a lot from you.
03:12:25And so like Olivia said,
03:12:27you doing doing things that help
03:12:29set you up for that kind of thing
03:12:31that you're passionate about.
03:12:32Really makes a difference going into
03:12:35those Graduate School interviews.
03:12:36You know, saying I did these
03:12:37things because I really like them.
03:12:39And I know a lot about myself and
03:12:41I know that this career is going to
03:12:43be for me because I know that it's
03:12:45going to be something that I am
03:12:47passionate about and why that is.
03:12:50Can really help.
03:12:51Kind of key into the you know to
03:12:54those that are interviewing you,
03:12:55that you've really thought
03:12:57about it and you really kind of
03:12:58know a little bit more about
03:12:59yourself. And then maybe when you started.
03:13:02I would also say that highlighting
03:13:04kind of what makes you unique
03:13:07is a really good aspect in.
03:13:09I'm getting into Graduate School and
03:13:11and also going
03:13:13through your clinical rotations
03:13:14and those kinds of things.
03:13:16Being able to again know yourself,
03:13:18make help yourself stand out a little bit
03:13:21from what other people make them unique.
03:13:24You know, so you can really
03:13:25stand out in the minds of those
03:13:26that are interviewing you.
03:13:27Those that you're working with.
03:13:30It it it definitely
03:13:32is a asset
03:13:33and not something that's
03:13:35a hindrance and then also
03:13:37Graduate School like I
03:13:38said is it's a lot of work.
03:13:40It's a lot of time management
03:13:42skills going between didactic
03:13:44work and your clinical rotations,
03:13:46and being able to do your capstone or thesis
03:13:49all at the same time.
03:13:51Sometimes it's a little disheartening
03:13:53where you feel like you know,
03:13:55why did I get into this in the 1st place?
03:13:57Can I really do this?
03:13:58Is this really what I want to do?
03:14:00Trying to have those.
03:14:01The reminders about why you decided
03:14:04to do this in the 1st place can
03:14:05really help push you through some
03:14:07of those really rough days where
03:14:09you're really like tasked to the
03:14:11Max with case Prep and also getting
03:14:14an assignment done or an oral exam
03:14:15done and then also by the way,
03:14:17your thesis professor is going to say hey,
03:14:19have you done this part for your thesis yet?
03:14:21You should
03:14:21probably really be thinking about that.
03:14:24You can have a lot of things
03:14:26going on at one time,
03:14:27so being being cognizant of why
03:14:30you really want to do this can.
03:14:33Can really bolster your energy
03:14:35and your motivation to keep
03:14:36going and to keep trying
03:14:38and and and to
03:14:39give yourself confidence that you
03:14:40really can do it because you can.
03:14:43Everybody can they.
03:14:44You know if you get to the place
03:14:45where you've applied and they've
03:14:46accepted you into a program,
03:14:48they can see that you can do
03:14:49this and they have faith
03:14:50in you and that's why
03:14:52they accept you into the programs
03:14:54because they feel like you're ready
03:14:55and they know that you're you
03:14:57can do it so. Keep that confidence up.
03:15:02So for mine I just. I guess because
03:15:06I'm a second year, I still remember
03:15:08applying and being actually
03:15:11doing this program last year
03:15:13as an applicant. So I just want to say,
03:15:15don't compare yourself to anyone else.
03:15:16I think a lot of times when we do
03:15:19these webinars and the students
03:15:21talk about their backgrounds,
03:15:23a lot of applicants tend to think, well,
03:15:25I don't have this or I didn't do this.
03:15:26Or should I do this and it's?
03:15:29It's just everyone has their own journey
03:15:31like me and Kim like are a good example like
03:15:33we are very different in our backgrounds,
03:15:35but we both made it into the
03:15:37program and she graduated.
03:15:39I'm a second year so
03:15:40we're definitely doing it.
03:15:42So just don't compare yourself.
03:15:43We all have our own strengths and weaknesses.
03:15:45Our own unique abilities and experiences.
03:15:50So really, like I said, just you know,
03:15:52do things that you really enjoy
03:15:54and shows who you are as a person.
03:15:56And I think that will make you
03:15:58a really strong applicant.
03:15:59So just don't compare yourself to anyone.
03:16:02I think that goes along with
03:16:03even in the program.
03:16:04I think a lot of times we have
03:16:06imposter syndrome like did they
03:16:07really choose me and I think I
03:16:09still have that a little bit.
03:16:11So just remember that if you do
03:16:13get in you are there for a purpose
03:16:15and if you don't it's really a
03:16:17numbers game like there is limited
03:16:19spaces and limited programs.
03:16:21We're all really qualified.
03:16:23It's just.
03:16:24Sometimes you just have to up a
03:16:26little bit and like I said before,
03:16:28like talk to your program director
03:16:30or any interviewers and see what you
03:16:32can do to improve your application.
03:16:34Because most of the time you are qualified,
03:16:36it's just a numbers game and then my
03:16:39second one and Janice already touched upon.
03:16:41This is just self care and Kim,
03:16:44like Kim said,
03:16:44it can be a really stressful program,
03:16:48but it's worth it in the end and
03:16:50I think to able to get through
03:16:52the program in one piece.
03:16:54Home is really self care.
03:16:56You gotta have to remember why you
03:16:58went into it in the self care of
03:17:00just doing anything that you enjoy.
03:17:02Whether that's
03:17:03going for a walk.
03:17:05Reaching out to friends taking 20
03:17:07minutes a day, maybe taking a couple
03:17:10hours off during your program.
03:17:12Just anything that will keep
03:17:13you a little bit like yourself.
03:17:15Because like Janice was saying,
03:17:17you can really get in the undertow
03:17:18and kind of forget about that.
03:17:19So just self care is really
03:17:21important during the program.
03:17:22And while we're teaching right now,
03:17:24they're teaching us about compassion,
03:17:25fatigue for genetic counselors,
03:17:26so I think that's really important.
03:17:27Going into the career as well
03:17:29to take care of yourself.
03:17:31So I think those were just our advice.
03:17:32Kim, do you have anything else to add?
03:17:35We're super happy.
03:17:36To have you guys contact us.
03:17:38That's why we're giving you her email.
03:17:39Please use it if you have other questions.
03:17:42It's is a very short amount
03:17:43of time to be able to explain
03:17:45such a complicated thing,
03:17:46so please feel free to
03:17:47reach out to us
03:17:49definitely, and I'll stop sharing now.
03:17:54Thank you both and Kim,
03:17:56congratulations on graduating
03:17:57making it to the promised land
03:18:00and hang in there. I love you you.
03:18:03You'll be there in no time.
03:18:06But let me I might share my screen
03:18:09to go over. Where did that go?
03:18:12The emails for our our great panelists?
03:18:15Thank you again.
03:18:16So much for taking the time out of
03:18:20our day out of your day to share your
03:18:23insights and thoughts with our attendees.
03:18:26Let's see now I can see that
03:18:30there were a couple of questions.
03:18:31I wonder if there was anyone on
03:18:33the panel who had last minute
03:18:36remarks to make to our group here
03:18:39before we closed for the day.
03:18:43As I kind of look through these questions.
03:18:58OK, Maya or Emily?
03:19:01Are you guys still on? Yeah.
03:19:06OK, and there was a question
03:19:08from earlier about deciding
03:19:09whether you wanted to work.
03:19:11Continue working in the lab or
03:19:14exploring multiple specialties,
03:19:15or if there is anyone here
03:19:17who has kind of transitioned
03:19:18from 1 specialty to the other,
03:19:21and if you could just comment on that.
03:19:24Yeah, so UM. For the time being,
03:19:29I really don't know if this is something
03:19:33that I wanna stay in long term.
03:19:35I like it right now.
03:19:38But I also like the fact that
03:19:41I've been offered the opportunity
03:19:43to start seeing some patients.
03:19:46It will only be, I believe.
03:19:51Two days per month so it will be limited,
03:19:56but it will be nice to actually get back
03:19:59into the clinic and see people. But, uh.
03:20:05As far as long term, I don't know.
03:20:07I do find it rewarding in its own
03:20:10sort of ways, but it is different.
03:20:19And I probably
03:20:21will stay in lab for my whole career,
03:20:24but one of my favorite things
03:20:26about GC is if that does change. I
03:20:28do have the opportunity to
03:20:30go to a different specialty.
03:20:36And anyone who might have taken
03:20:38some time between their undergrad
03:20:40between that and Graduate School,
03:20:43and how did those jobs or your experience
03:20:45during that time that prepare you?
03:20:56I can maybe provide an answer to that.
03:20:59That's OK, so personally I had
03:21:02taken two years off in between
03:21:05undergrad and grad school.
03:21:07I did not know that I wanted to be a
03:21:09genetic counselor when I was in undergrad.
03:21:11I think I had heard of the profession,
03:21:13but not known enough about it to
03:21:16consider it seriously as a career.
03:21:18I personally majored in psychology
03:21:20and had a minor in biology,
03:21:23so in between, you know,
03:21:25going back to school,
03:21:26there were like two other classes.
03:21:28I think that I had to take and I
03:21:30did those at like a local Community
03:21:32College because of money of course.
03:21:37And in in the time between in those two
03:21:42years, I worked primarily in mental health,
03:21:47so I worked with individuals in a mental
03:21:51Health Center and also with some individuals
03:21:53with disabilities such as cerebral palsy.
03:21:56And I actually volunteered to help
03:22:00teach a kind of an art class for these
03:22:04individuals with disabilities at a day.
03:22:06Center kind of an art class you know
03:22:10modified to their their levels,
03:22:12and I definitely think that working
03:22:15with individuals with you know various
03:22:18mental health issues. You know,
03:22:21cognitive and physical disabilities,
03:22:23even though it wasn't specifically
03:22:26related to genetics,
03:22:28was actually enormously helpful for me.
03:22:32I think just moving into those,
03:22:35you know, kind of needing to put on the.
03:22:37Counseling hacked so they say
03:22:40when working with with patients.
03:22:47Excellent, there was a
03:22:50question for Emily and Maya.
03:22:51What do you find and?
03:22:56Or a difference between pursuing
03:22:58a masters in genetic counseling
03:23:00and not a PhD in let's say,
03:23:02genetics? Or lab work.
03:23:11So I find that they're pretty different.
03:23:15Pursuing a PhD in genetics depending
03:23:18on if it's molecular genetics,
03:23:22which I think is most likely
03:23:24what you're asking about.
03:23:28It's it's a very different sort.
03:23:30Of course, genetic counseling
03:23:33is much more focused on.
03:23:36The interaction with people and
03:23:39looking at their different sort
03:23:41of clinical symptoms of versus.
03:23:44If you're going into molecular genetics,
03:23:46it's much more about the DNA itself.
03:23:52And I find that they they are very different.
03:23:57Jose because. They really focus
03:24:01on different aspects of genetics.
03:24:04They do have a lot of crossover,
03:24:06but they're fairly different fields.
03:24:16Great.
03:24:18OK, well as people are dropping
03:24:21off ready for the weekend,
03:24:23any last comments?
03:24:24Thank you all again for
03:24:26attending and speaking.
03:24:28I was really, really really
03:24:30informative and helpful.
03:24:38OK great, well this recording will be
03:24:41available after that short survey,
03:24:42so I'll send that out in the coming weeks.
03:24:45I put in the contact information
03:24:47for our great panelists today,
03:24:49but you can always reach me afterwards.
03:24:53And if you have a more specific
03:24:55question for a panelist,
03:24:56I encourage you to contact them directly.
03:24:59But thank you all so much
03:25:01again and have a great weekend.