Genetic Counselor for a Day 2021

May 24, 2021

Information

Members of the Smilow Cancer Genetics & Prevention Program hosted an event on May 21st to cover different aspects of the genetic counseling specialty.

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00:00So might as well start on time,
00:03but thank you everyone so much
00:05for joining us and happy Friday.
00:07My name is Alex.
00:08I'm one of the cancer genetic counselors
00:11here at Yale, New Haven Health,
00:13and I'll be your moderator today.
00:16Anne. We are so excited to have you all
00:20here for genetic counselor for a day.
00:23We've been working on this for months now,
00:26so we're excited to share this all with you,
00:29and that's whether you just heard
00:31about genetic counseling yesterday,
00:33or you're already preparing your
00:35genetic counseling application
00:36for the upcoming cycle.
00:37We really hope that this event can serve as.
00:42A good solid foundation for what the
00:44profession is and what it has to offer.
00:46And of course, how did they get there.
00:48If you want to.
00:52As promised, very jam packed schedule.
00:55The first part of our event
00:57today will focus more on kind
00:59of what genetic counseling is,
01:02what different specialties there are,
01:04followed by a 15 minute break and then
01:06the second half is more so focused
01:09on genetic counseling programs.
01:11What to expect in Graduate School
01:13and will wrap up with a question
01:16and answer session at the very end.
01:24As we go through our presentations today,
01:27I'm sure you'll have lots
01:28of different questions,
01:29so do feel free to write them
01:31in the chat and if time allows,
01:34I will be posing a couple of
01:36questions to each of our speakers
01:38at the end of their presentation.
01:40But as mentioned before,
01:41if we aren't able to get to your question,
01:44we'll have a fairly generous
01:46amount of time at the end of our
01:48event to wrap things up there.
01:54Finally, a shameless plug for your feedback.
01:56This is only the second year that we've
01:59done the genetic counselor for a day event,
02:02so we're absolutely looking for ways to
02:04improve and to continue to improve as
02:07we host this event in the coming years.
02:09So at the end, or maybe sometime next week,
02:13we'll be sending out a survey with
02:15questions about your thoughts on the
02:17program and what you would like to see.
02:20What you didn't see.
02:21And we'll also be recording the event,
02:24so if you complete our survey,
02:26you can have a link to the recording
02:28of the event, and that's for whether
02:30you are able to stay for the entire
02:33duration or just a small part of it.
02:35But thank you in advance.
02:39And I have to say that the views
02:42and opinions expressed in these
02:44presentations are those of the speakers,
02:46and they don't necessarily reflect
02:48the official policy of Yale,
02:50New Haven Health,
02:51the National Society of Genetic Counselors,
02:53and or other genetic counseling programs.
02:56So, without further ado,
02:57I'll turn it over to Amanda Ganzak,
03:00who will be talking more about the.
03:04Giving us some background about
03:05the genetic counseling profession.
03:15Alright, there we go.
03:16I'm Amanda. Ganzak Anne.
03:17I'm so happy to be here and welcome everyone
03:20for participating in our event today.
03:22What I hope to do is give us a
03:25little bit of sort of groundwork and
03:27provide some baseline information
03:29about the field of genetic counseling
03:31before we sort of break out into
03:33some of the sub specialties here.
03:35With our lucky genetic
03:37counselors representing Yale,
03:38New Haven Health and Yale Medicine today.
03:42So I wanted to 1st give you a little bit
03:45about my background so I am a graduate
03:48of the Arcadia University program,
03:51which is now become the University of
03:53Pennsylvania genetic counseling program.
03:55I, upon graduation, worked at MD
03:57Anderson Cancer Center in Houston,
03:59TX and particularly in the logic
04:01oncology department as a part of their
04:04clinical cancer genetics program.
04:05And so I worked also very closely with the
04:08UTI genetic counseling training program.
04:11While I was there.
04:12As well, I then transitioned
04:14to the Hospital of University
04:16of Pennsylvania and worked,
04:18and the cancer Risk Assessment Program
04:21and the Bassar Center for BRCA.
04:23And then joined the team here at Yale,
04:26New Haven Health in 2017 and
04:28currently serve as a lead
04:30genetic counselor in the program.
04:35So what is a genetic counselor?
04:37You know, I'm sure you guys landed here
04:39because part of what you Googled or heard
04:42about the field sounded pretty interesting.
04:44But you know, whenever you go into some type
04:47of a social event or you so you're asked,
04:50you know what do you do as it?
04:53As for your job.
04:54And I say genetic counselor.
04:56Usually people look sideways
04:57and have no clue what that is.
04:59So I thought this was a rather funny
05:02representation of the various types
05:04of interpretations people make.
05:05Or assume when they hear what it is
05:08that I do as a genetic counselor,
05:10so everything from making the
05:12perfect baby to working in a lab to,
05:15you know, extracting an altering DNA.
05:17So all of those things aren't
05:19necessarily really what we do,
05:21and it's probably quite different
05:23than that and hard to explain,
05:25so I hope after today you all understand
05:28a lot more about what it is to be
05:31a genetic counselor and what our
05:34day-to-day job really looks like.
05:36So what is a genetic counselor?
05:39Let's look at sort of the the
05:41definition here.
05:42So genetic counselors are health
05:44care professionals with advanced
05:46training and medical genetics and
05:48counseling who educate, guide,
05:50empower,
05:50and support patients seeking
05:52information about inherited diseases
05:54and conditions in order to provide a
05:56better understanding of how genetic
05:58information impacts patients,
06:00lives and lives of their family members.
06:03OK, so let's unpack all of this.
06:06Really a lot of what genetic
06:08counselors do is translate complex
06:10genetic information in a way that
06:12the average person can understand,
06:14digest and really be able to apply
06:17what they learned in terms of what
06:19their risk might be for a genetic
06:22or hereditary condition.
06:23To make choices about their medical
06:25care as well as understand what
06:27that risk might mean for their
06:30children and other family members.
06:35But a genetic counselor shop is not
06:37merely to explain complex test findings,
06:40it's also to help patients chart a course
06:43for how to use that knowledge proactively.
06:46And there was a task force created in
06:4922,003 as part of the National Society of
06:53Genetic Counselors to really help develop
06:56a definition of genetic counseling.
06:59And so they have defined this as a
07:02process of helping people understand
07:04and adapt to the medical,
07:07psychological and familial implications
07:09of the genetic contributions to disease.
07:12And that process really integrates
07:15interpreting medical and family histories
07:17to assess the chance of disease.
07:19Occurrence or re occurrence within a family.
07:22To educate about the inheritance
07:25testing options, medical management,
07:28prevention resources and research.
07:31And the counseling is to really help
07:33promote informed choices in patients
07:35and how to help that patient adapt
07:37to that risk or condition that
07:39they might have been found to have.
07:41And so really, our job is multifaceted.
07:45Everything from performing a risk assessment,
07:48providing education might even be
07:50delivering a diagnosis for that
07:53individual family members or their
07:55child or future child help provide the
07:58psychological support and really hope
08:01to promote advocacy along the way.
08:06So how do we become a genetic counselor?
08:09So Jenna counselors obtain a Masters degree,
08:11which is typically a two year program in
08:14genetic counseling from a program that's
08:16been accredited by the Accreditation
08:18Council for Genetic Counseling or the AC GC.
08:20And right now there are about 55
08:24training programs in the US and Canada.
08:27Typically the training includes
08:28both classroom based learning as
08:30well as clinical rotation,
08:31so you kind of get a combination of
08:34on the job learning from those in
08:36the field across various specialties,
08:39but also sort of learning that baseline
08:41detailed knowledge of genetics,
08:42inheritance, results and and all the
08:45information that you're going to need
08:48to learn to explain to patients.
08:50Upon graduation,
08:51candidates then sit for the American
08:53Board of Genetic Counseling or a BGC
08:56board certification exam to become
08:58a certified genetic counselor,
09:00and then on the state level.
09:02There is licensure of genetic counselors.
09:04Currently in 26 States and three more
09:08states have licensure bills that have
09:10passed or in the process of rulemaking.
09:14So in terms of the history of
09:17their profession, so in 1955,
09:18Doctor Sheldon Reed presented the
09:20concept of genetic counseling at
09:22the first International Congress
09:24on Human Genetics in Copenhagen,
09:26and he then published a book on
09:30counseling and medical genetics.
09:32But it really wasn't until 1969 where
09:34the first genetic counseling program
09:36was founded at Sarah Lawrence College,
09:38right here.
09:39Close by to us in New York.
09:41And in 1979,
09:43the National Society of Genetic
09:45Counselors was founded in 1981.
09:48Certification examinations were
09:49developed in conjunction with
09:51credentialing of medical geneticists,
09:53which are physicians.
09:55In 1993, the ABG established,
09:58and began certifying genetic counselors
10:01and accrediting training programs in the USN,
10:04Canada.
10:04In 2002 the first state
10:07licensure was approved in Utah,
10:10and they became the first state to
10:13license genetic counselors an in 2021.
10:16Now 26 states have licensure
10:20and three states are pending.
10:23And if you look at how has the
10:26profession grown with time,
10:28it seems to be almost exponential.
10:30So just 30 years ago there was
10:33only just over 400 and counselors.
10:35And as far as this,
10:37you know graph takes us.
10:39It has now approached 5000 and
10:41when I look back as to when when
10:45I graduated in 2008,
10:46the field has more than doubled,
10:48which is absolutely amazing.
10:50So there is a lot of career opportunity.
10:54Here, as a genetic counselor.
10:57Which is just very exciting for
10:59for the field overall.
11:01Yeah,
11:02we really have seen that genetic
11:04counseling as a as a career is rated
11:07one of the top health care support
11:10jobs out there, according to U.S.
11:12news.
11:12An reports as well as the US
11:15Bureau of Labor Statistics.
11:17And if you ask most genetic counselors,
11:1990% of us are really satisfied
11:22in the profession that we sit in.
11:24Which is, you know,
11:25not all specialties in all careers
11:28and people in various professions
11:30can maybe save with that high of.
11:32Satisfaction score so in terms
11:37of demographics,
11:38in 2018 when we look internationally,
11:40there are approximately 7000 genetic
11:43counselors in 28 different countries.
11:46And the NSDC does a every two year
11:50professional status survey to look
11:52at who are genetic counselors.
11:55And right now, we're still.
11:58Large majority female but always
12:00looking to recruit our our male
12:02counterparts to be genetic counselors.
12:05It's just sort of been a female
12:08driven field for a very long time.
12:112% of responders to the status survey
12:13responded that they were part of
12:16the disability community as well.
12:20If we look at the areas of practice
12:23about 50% of genetic counselors are in a
12:26position where they have direct patient care.
12:28And really, what does that mean?
12:31OK, they're looking.
12:32You know they're working
12:34with patients face to face.
12:36They might be supervising students,
12:37participating education and teaching.
12:39They do ordering of genetic testing.
12:41They might do clinical coordination.
12:44And that's in comparison to non direct
12:47patient care genetic counselors and
12:50those may be ones who are working
12:52on in a lab where they're writing
12:55lab based genetic test reports or
12:57answering questions for providers
12:59who are ordering genetic testing,
13:01they might be doing interpretation
13:03of variance from genetic testing.
13:05They might be at liaison between customers
13:08and performing their own research.
13:11And then there is positions that
13:12sort of a mixed based approach
13:14where they have some direct patient
13:16care in clinical coordination.
13:18But they also might be working more
13:20of sort of a lab based or industry
13:23stats side of things where not all of
13:26their job responsibilities include
13:27working with directly with patients.
13:30Among genetic counselors,
13:3290% of them work full-time and
13:3410% work part time.
13:36And when we look at positions
13:38and this is before Kovin,
13:41so take this number with a grain of salt.
13:44Genetic counselors are 40% of them were
13:47working remotely as part of their position,
13:49and certainly with kovid.
13:51That number has increased,
13:52but slowly we're starting to make our
13:55way back into the clinic full time.
13:58As we all get vaccinated here.
14:01So in terms of current statistics
14:04and areas of practice,
14:06genetic counselors have very different
14:08specialty areas and this is just
14:11sort of further subdivided with time.
14:13Everything from prenatal or reproductive
14:15genetics, pediatric genetics,
14:17neurogenetics, metabolic diseases,
14:18general genetics testing in laboratory,
14:20adult genetics, cardio, genetics, and cancer.
14:23So you're going to hear about a lot
14:26of these different specialties today,
14:29which is great to give you a
14:32good overview of how.
14:34We're all genetic counselors,
14:35but our jobs are sort of a little bit
14:37different based on what we specialize in.
14:39And then looking at where we based out
14:41of where are are who are employers.
14:44You know many people might be
14:45working in an academic or university
14:47based setting like here at Yale,
14:49New Haven Health and Yale Medicine.
14:51They might be just working for
14:53a hospital that's not affiliated
14:55with an academic setting.
14:57They may be working for nonprofits
14:59or government or in a laboratory.
15:03And when you look at the areas of specialty
15:06or practice among genetic counselors,
15:09this also has changed overtime.
15:11So in the very early years of the
15:14of the field or the profession,
15:17many more genetic counselors were working
15:19in the prenatal or reproductive side.
15:22Or general genetics side of the field.
15:25But with time, what we've notice is
15:27that the field of genetic genetic
15:30counseling in the specialty of
15:32cancer has increased with time.
15:35And it's actually the highest
15:37kind of specialty area currently.
15:41Now for genetic counselors,
15:42they might not always work in
15:44just one single specialty among
15:46survey genetic counselors.
15:471/3 of people practice in
15:49just one area of specialty.
15:51However,
15:52they might have a position where
15:54they are counseling patients with
15:56multiple different specialties,
15:57so they might have patients who they are.
16:00Counseling based on prenatal based
16:02genetic testing and then their next
16:04patient might be counseling on a
16:07cancer predisposition syndrome.
16:08So there is some variability and
16:10genetic counseling positions.
16:11In specialty areas,
16:13I commend all the genetic counselor
16:15counselors out there who do have
16:17to more than one practice area,
16:18'cause I don't know how they do it.
16:21But as you know,
16:22really being as someone who works
16:24in a single single specialty,
16:26but those positions do exist.
16:28If certainly if someones interested
16:30in sort of more than one specialty
16:33area through their training.
16:35Now,
16:35the majority of direct patient
16:37care positions really are a face to
16:40face type model for most people,
16:41although there were some telephone
16:43and Tele health.
16:44You know video type Konsult visits that
16:47were a part of the counseling model.
16:49With COVID we have shifted to
16:51probably much more in this phone
16:53and Tele health model nowadays.
16:55An I really do not think that
16:58that's going anywhere anytime soon.
17:00I think what that has really
17:02also demonstrated to us is we've
17:04been able to expand our services
17:06to patients who might not.
17:08Otherwise,
17:08have access to a genetic counselor
17:10in their geographic area,
17:12and also anecdotally,
17:13what I have noticed with my patients
17:15is that now I can really offer testing
17:17in families where I found a genetic
17:20risk and identified the gene and
17:21the family to more systematically
17:23offer testing to their relatives
17:25more easily so they might not be
17:27based out of New Haven or in the
17:30Yale New Haven health system.
17:31But being able to get them registered
17:33in our system and seeing them
17:35remotely now becomes a much easier
17:37possibility and then offering them
17:39testing for the no mutation that's
17:41been identified in the family.
17:43Has really increased the ability for
17:44us to share this information with
17:46relatives and we're actively get them tested.
17:51So we look at the salary
17:53of genetic counselors.
17:54The average salary for a full time
17:56genetic counselor makes just under
17:58$95,000 when surveyed and our salary
18:00has truly increased over the years and
18:03you graduate may expect to make about
18:05$75,000 a year for full time position.
18:07A lot of that can also
18:10depend on geographic area.
18:11Obviously taking a job in
18:13a city like New York City,
18:15there where the cost of living
18:17is more expensive, this salary.
18:19Likely it should be more
18:21than someone who might be.
18:23Working in a smaller based town
18:25or hospital system and those
18:27genetic counselors who work for
18:28direct care type of positions,
18:31they make about $83,000 on average
18:33in genetic counselor who works in a
18:36position with nine direct patient
18:38care or maybe more of it is a
18:41lab or industry based physician.
18:43They make on average 100 and $14,000
18:45and then the positions that are
18:48mixed so they have some direct
18:50patient care in some non direct care.
18:53Those positions salary wise kind
18:54of fall in between and they make
18:56about $97,000 a year.
19:00So what can you expect when someone has
19:03an appointment with a genetic counselor?
19:06So I want to go through a little bit of what
19:08the process and and what that appointment
19:11really networking typically look like.
19:13So the 1st and biggest step is really taking
19:15a detailed medical and family history.
19:18So here we have Dirk bringing
19:20in his family tree to class.
19:22Yeah it represents his parents,
19:24his siblings, his grandparents.
19:25And that's a lot of what we do.
19:28So as we talk through today I
19:31want to introduce this, you know.
19:33Family history collection tool that we
19:35in genetics call a pedigree and get you
19:38familiar with what this looks like.
19:40Since several of the genetic counselors
19:42will share some case examples
19:44using pedigrees from patients.
19:46And a pedigree is really a representation
19:48of the family tree and it helps to
19:51diagram the potential inheritance
19:53of a condition or disease through
19:55several generations of a family.
19:57It also shows the relationships
19:59between family members and indicates
20:01who in family member who in the family
20:03might have certain traits or disease.
20:06So on the right hand side,
20:08what you're seeing here is that
20:10women are represented by the circles
20:13and men are represented by squares.
20:15So if this was my patient here who was
20:18a male, he had a brother and a sister,
20:21so all the children are on one line
20:23together here and their parents
20:25are the next level above them.
20:27So this would be their mom.
20:29This would be their dad on Mom's
20:31side of the family.
20:32We have an uncle and aunt and then above
20:35there are the grandparents to my patient.
20:37And anyone who is shaded in so these
20:40individuals here are those who have
20:42a certain genetic risk or disease.
20:44So for my job as a cancer genetic counselor,
20:47these might be people in the family
20:50who have cancer and so the more
20:52people who are shaded in in multiple
20:54generations are all factors that we
20:57assess for to determine if there is
20:59a hereditary risk within the family.
21:01So I wanted to introduce this so that
21:04you have some baseline information
21:06as the genetic counselors after me.
21:08Talk more about their family histories
21:11that they've collected.
21:12So after we've collected the family history,
21:15we then perform the risk assessment.
21:17We take all those factors together
21:19and talk about how likely does that
21:21individual or family have a hereditary risk?
21:24We provide education about
21:26genetics inheritance,
21:26how this would impact the patient
21:29and their family members if we found
21:32a certain disease in their family.
21:34We would help coordinate consent
21:36for genetic testing.
21:37When applicable,
21:38we coordinate genetic testing
21:40when applicable,
21:40and there is different types of medical
21:43genetic tests out there and we really
21:46sort of focus as genetic counselors
21:48in the category here on the left that
21:51we would deem medical genetic tests.
21:53Those like diagnostic testing.
21:54So someone coming in with a cancer
21:57diagnosis and doing genetic testing
21:59to assess for genes that cause cancer.
22:02Carrier testing, you know,
22:04looking at subsets of populations to see
22:07if they carry a single mutation that
22:09when combined with another mutation in
22:12that gene could cause risk for children.
22:14Prenatal diagnosis over there abnormalities
22:17on an ultrasound or through some initial
22:20screening tests that looked abnormal
22:22and now we're trying to understand
22:24whether the baby in fact is infected.
22:27Newborn screening,
22:27so once that baby is born there
22:30some testing that can be done,
22:32particularly for metabolic diseases to
22:34see if that child could be affected.
22:36Since early intervention and changes
22:38changes to diet are so key to long
22:41term survival of those of those kids.
22:43Predictive diagnosis OK,
22:44once we have a known genetic
22:46disease in our family,
22:48testing those relatives to see
22:50who else inherited that disease.
22:52And these are a little bit different
22:54from non medical genetic tests like
22:56paternity testing or genealogy testing
22:58that you might hear about or see in your
23:01local pharmacy or forensic based testing.
23:05So what is the process of genetic
23:07testing when we most often performed
23:09genetic testing through blood sample?
23:11Or we can use a saliva sample.
23:14Here is an example of what
23:16that might look like.
23:17We're in individual,
23:18would spit into a tube to collect
23:21the sample for genetic testing,
23:23but it can be additionally acquired
23:25through for newborn screening,
23:26a little heel prick where the
23:29blood is then withdrawn to do the
23:31testing and amniocentesis or CVS,
23:33which are two ways that.
23:35Testing is performed for prenatal
23:37diagnosis and some fine needle aspiration.
23:39In some rare cases where we might
23:41need to to look at the sort of
23:44the bone marrow to help us.
23:46So most insurance companies cover
23:48the cost of genetic testing,
23:50especially for those who have a
23:53personal or strong family history
23:55that really fit the pattern or
23:58condition that is in question.
24:00So once we've done genetic testing,
24:02it's then our job to contact
24:04the patient and disclose those
24:05results and explain them in detail.
24:07What did we find?
24:09What does it mean?
24:10Who else in the family might need
24:12testing we go through?
24:14Are there particular follow-up
24:15tests or screening measures or
24:17medical management recommendations
24:18that we're going to make based on
24:21the outcomes of genetic testing?
24:23We hope to identify patient resources
24:25and or research opportunities that
24:27the individual or family might
24:29be eligible to participate in.
24:31Now, given this genetic disease.
24:34We hope to explore who in the family
24:36is also at risk to have a genetic
24:38condition and explain who else is
24:40eligible in the family to do genetic
24:43testing and when we can help to
24:45coordinate that testing for those relatives.
24:47And then we summarize a plan for follow up.
24:50I think.
24:50Also for genetic counselors,
24:52we can act a little bit like
24:54a patient navigator.
24:55So now that we've identified a genetic risk,
24:57how do we plug them into other high risk
24:59providers to manage that genetic risk?
25:01Now moving forward for them,
25:03you know,
25:03well,
25:04it's sort of might be a one
25:06stop shop. As I say,
25:07just have my patients in meeting with me.
25:10I then help to get them plugged
25:11in with those resources,
25:13so that really have that long
25:15term management that can be so
25:18key for many of our patients.
25:20So now that you've learned a little
25:22bit of the baseline information about
25:24what it is to be a genetic counselor,
25:27how the field was developed
25:29and has grown overtime,
25:30we hope today to take you through some
25:32of the various specialties here at Yale,
25:35New Haven Health,
25:36Yale Medicine to understand a
25:37little bit more about what it
25:39is from a day-to-day perspective
25:41for our genetic counselors.
25:43In each of these specialties.
25:46So Next up will be Amy Kelly,
25:48who is one of our cancer genetic
25:50counselors in our smile,
25:52cancer genetics and prevention
25:53program at Yale, New Haven Health.
25:59Amanda, I was hoping
26:00to ask you a question before just as we
26:04have 3 minutes before Amy's presentation.
26:06One of our participants here had
26:09brought up a good point and it
26:11said when creating pedigrees,
26:12does the family history just come
26:14from conversations with the patient?
26:16What is done in cases where there they
26:19might not be aware of these problems?
26:22And could you
26:23just elaborate on that?
26:24Yeah a lot of times we will ask patients
26:27to either contact relatives to learn
26:30information about their family history.
26:32Ahead of the appointment so that
26:33we have as much information going
26:35into the appointment as possible
26:37from a cancer perspective,
26:38we're mostly dealing with adults,
26:40so they usually have a some
26:41information either about themselves
26:42or their family members.
26:43But if not, can collect that ahead of time.
26:46Looking at things like the types
26:48of cancers in their family,
26:49the ages of onset now I'm sure in
26:51pediatric genetics and prenatal genetics
26:53might be a totally different in,
26:55you know what information we're
26:56collecting and who's able to
26:57share that information with them.
26:59You know,
26:59if we're looking at a baby or child,
27:02they're certainly not going to be
27:03the ones who sharing the family
27:05history with the genetic counselor.
27:07And it's going to be the parents instead,
27:09so I think it's all in who is the patient,
27:12how old they are,
27:13but we always encourage people
27:15to try and reach out to family
27:17members prior to the appointment
27:18to see if anyone might have similar
27:21features that are consistent with
27:23what we're being evaluated for in
27:25the genetic counseling session.
27:28Thank you.
27:32And some of
27:33the other questions,
27:34or at least one of them had to do
27:37with cancer genetic counseling.
27:39So I'll take that as your cue
27:41Amy to start your presentation.
27:44Great.
27:57OK, good afternoon everyone.
27:59I am so excited to be talking to you
28:03today about cancer, genetic counseling.
28:05My name is Amy Kelly.
28:07I am a cancer genetic counselor
28:09at the smilow cancer genetics
28:11and Prevention program at Yale,
28:14New Haven Health and just to give
28:16a very brief overview of cancer,
28:19genetic counseling and talk
28:21about my day today.
28:22But really, the goal of cancer,
28:25genetic counseling and testing is to
28:27identify a hereditary predisposition.
28:29Two cancer in an individual because that
28:32could be helpful in terms of someone
28:35can't someone's cancer treatment?
28:36And testing at risk relatives.
28:39So if there is a hereditary
28:42predisposition to cancer,
28:43we know who to test in the family.
28:47And depending upon the
28:49hereditary predisposition,
28:50there are certain cancer
28:52screenings management.
28:53Preventive surgeries
28:54were essentially someone.
28:56Could be prevented from developing a cancer,
28:59or it could be caught at a much
29:02earlier and treatable stage.
29:04To actually change outcomes.
29:05So really, the goal of cancer,
29:08genetic testing and counseling is to
29:10work with families in identifying
29:12hereditary predispositions,
29:13coordinating follow-up,
29:14and talking about the benefit of
29:17cancer prevention and screening.
29:19Now before I talk about specifically
29:21what I do day today,
29:23I want to go over my background.
29:26I did my undergraduate degree at Suni Oswego.
29:29I got my Bachelors of Science in
29:32zoology and I graduated in 2014.
29:35I then took a year off after I
29:37graduated to apply for genetic
29:39counseling programs and to sensually
29:40beef up my application.
29:42Our Bay Path students later on
29:44today will talk to you more
29:45specifically about what they did,
29:47but just wanted to put in that
29:50that is something I did as well.
29:53I graduated from the Icahn School of
29:55Medicine at Mount Sinai in New York
29:57City with My Masters in genetic counseling.
29:59I graduated in 2017 and I was
30:01board certified as of August 25th,
30:032017,
30:03and I remember the date because
30:05when you pass your boards,
30:07you don't forget that date.
30:09And I've been with the smilow Cancer
30:12Genics program since June of 2017.
30:14Sir,
30:15so almost four years and my specialty
30:17is direct patient care and cancer only.
30:20So when Amanda was talking about
30:22single or multiple specialties,
30:24my focus and specialty is cancer.
30:29So Amanda talked about the risk assessment,
30:32so with hereditary cancer
30:34predispositions we look for quote
30:35unquote red flags that would appear in
30:38someone's personal or family history.
30:40That might increase suspicion of a hereditary
30:43predisposition to developing cancer.
30:48So one of the biggest red
30:50flags that we might see is
30:52cancer diagnosed at early ages.
30:54It is dependent on cancer type,
30:56but when we see cancer at
30:59an unexpectedly young age,
31:00like for example breast cancer
31:02diagnosed at age 45 under 50,
31:04that is an earlier than expected
31:06age of a cancer diagnosis.
31:09Another one could be colon
31:10cancer diagnosis under 50,
31:12so seeing early age in a person
31:14or in someone's relatives could
31:16increase suspicion of a hereditary.
31:19Predisposition.
31:22Another thing we see is you might see a
31:25family where there's multiple relatives.
31:28Grandparents, aunts,
31:29someone's parents with the same type of
31:32cancer like multiple odds with breast cancer.
31:35Or we can see associated cancers
31:37because what we know about hereditary
31:39cancer predispositions is there can
31:41be multiple cancer risks associated
31:44with a single previous position.
31:46So, for example, breast, ovarian,
31:48and pancreatic cancer in the family,
31:50even though they're not the same cancer type.
31:54Seeing them in one family can increase
31:56my suspicion of a predisposition
31:58because we know there are single genes
32:01that can cause risk of multiple cancer
32:04types and other associated cancers.
32:06That we would talk about might be
32:09colon cancer and uterine cancer.
32:12In rare cancers,
32:13not every single cancer that is rare is
32:16necessarily related to hereditary risk,
32:18but specific types of rare cancers
32:21or tumors might make me suspicious.
32:23So ovarian cancer, pancreatic cancer,
32:25and breast cancer in a man.
32:28Those are quite uncommon,
32:30and given that their uncommon when we
32:32see them in a family we think about is
32:37their hereditary predisposition causing that.
32:39There's even rare tumors which are called
32:42paraganglioma's in Pheochromocytomas,
32:43which I don't expect you to know or
32:45be able to pronounce when you see them
32:48for the first time, but rare there.
32:51Essentially rare tumors are usually
32:53benign that are found along the.
32:55This access of the body or for the
32:58pheochromocytomas found on the
32:59adrenal glands,
33:00so these are very specific type of tumors.
33:03But when your cancer genetic counselor,
33:05you know to look for specific
33:08tumor types that.
33:09If they're rare, you know that,
33:11OK,
33:12this might be indicative of predisposition.
33:16In cancers that are
33:18unusually aggressive,
33:18so specifically prostate cancer,
33:20which is common in men to have,
33:22but it's less common for
33:24that cancer to become meta,
33:25static or aggressive,
33:27so something else to think about when
33:30we're doing a family tree or pedigree.
33:33Or again kind of similar
33:35to the earlier point,
33:36but if some one person has bilateral
33:38breast cancer or colon and uterine cancer,
33:41that might make me more suspicious
33:43that they could have a predisposition.
33:46And finally,
33:47individuals of Ashkenazi Jewish ancestry,
33:49we do see a higher prevalence of
33:51hereditary breast and ovarian cancer
33:54syndrome in those individuals,
33:56so we do take into account ancestry
33:58during the risk assessment.
34:03So time for this. A brief poll.
34:06I think Alex will pull it up so a is
34:08corresponding to the pedigree below.
34:11Right below it B is corresponding to
34:13the pedigree right above it and sees
34:16corresponding to the pedigree right below it.
34:18So just little just a little fun fun pull.
34:22Which of these individuals
34:23which are identical,
34:24identified by the arrow pointing below them,
34:26is most likely to have a
34:29hereditary cancer predisposition?
34:30So based on what I talked
34:32about with red flags.
34:34Which of these individuals needs
34:36pedigrees would you be most suspicious?
34:38Of having a hereditary cancer risk.
34:42And I'll just give a couple.
34:4530 seconds or so, Alex,
34:47Alex and tell me when when it's all set.
34:54The votes are pouring in. Let's give
34:57it maybe another 10 seconds, alright?
35:09Just so folks can have some time to think.
35:25Let's see. So most people said.
35:29Said said be which which I know I can see
35:33what from my perspective I would say see.
35:36Just because there is one person who was
35:39diagnosed quite young with breast cancer.
35:41But I do see where you're with with
35:45B where there are two women with
35:47breast cancer but something that I
35:50also think about is that especially
35:52breast cancer at more typical.
35:55Ages, which would be over the age of 50,
35:58when a woman's after menopause in
36:00a couple relatives is not very
36:03suspicious of a predisposition, but.
36:05Definitely you know it is something
36:08that can can raise a flag,
36:09but also, especially if it wasn't
36:12multiple generations out.
36:13Probably make me a little bit more
36:15suspicious for the case of B.
36:23So let's talk about it just to brief
36:26briefly talk about a typical day
36:28with cancer, genetic counseling.
36:30So I think the best way to
36:32illustrate this is just talk
36:34through an actual case that I saw.
36:37So when I pull up the pedigree,
36:39I know it looks like a lot,
36:41but the first thing I do when I
36:43see a case is a lot of what we
36:46do is we are doing chart prep.
36:48I'm looking at this patient's
36:50medical history.
36:51This patient too with the big yellow arrow.
36:53There she is a 63 year old female who
36:56was diagnosed with breast cancer at 56.
36:58So I'm looking at pathology records
37:00and looking at her treatment I'm
37:02looking at other cancer screening
37:03like colonoscopy reports does.
37:05Did you see a dermatologist?
37:07Does she take any hormones,
37:09any major gynecological surgeries?
37:11I'm taking all this in sharp
37:13prep and then I take what I know
37:16from the family history.
37:18A prior to the appointment,
37:19but during the appointment the mid
37:21we collect the majority of the family
37:24history where we ask about cancer
37:26diagnosis and if there is a cancer
37:28diagnosis at what age where they diagnosed.
37:31In this family she had never
37:34had genetic testing before,
37:35but she was prompted because she
37:38has a cousin on her mom's side
37:41who had breast cancer,
37:42who reports has an ATM mutation.
37:45ATM is a moderate risk breast cancer
37:47gene which possibly could explain
37:49why her cousin developed breast
37:51cancer so she was concerned about her
37:54risk of having that seem mutation.
37:57But when we're looking
37:59at the family tree,
38:00of course we take limitations into account.
38:03I did not have records confirming
38:05the genetic test results,
38:07but per the patient report,
38:09her aunt so her cousins mother
38:11tested negative and her uncle
38:13who's not a blood relative.
38:15So for Cousins father tested
38:17positive for the ATM mutation.
38:19So we had this conversation
38:21where we don't have records,
38:23but it seems like you're not at
38:25risk for having this ATM mutation.
38:28Also reassuring that her mom is living 83,
38:31doing well other family history.
38:33I would look at is you
38:35know on her mom's side.
38:36There is an ovarian cancer
38:38and we talked about breast and
38:41ovarian cancer can be associated.
38:43But a little bit distant
38:45to her in a great aunt,
38:46so we did talk about that.
38:48That you know on moms side
38:50we're seeing some cancer,
38:51but a little bit distant to you
38:54and this ATM mutation seems like
38:55it's not a risk of having it.
38:58But we always take both sides
39:00the family into account, right?
39:01So on Dad side, we look.
39:03And as I said,
39:04prostate cancer is common in men,
39:06but less common to be meta static,
39:08she reports her uncle died
39:10from prostate cancer.
39:11In Dad side is small.
39:12He only had one brother.
39:15So really when we do this assessment,
39:17we're looking at individuals,
39:19their ages of diagnosis.
39:21What is increasing suspicion and
39:23my patient was not diagnosed at
39:25a young age right now under 50,
39:27but we talked about, you know,
39:29given that your uncle has
39:31metastatic prostate cancer,
39:32your history of breast cancer definitely
39:34makes sense to do some testing.
39:39So we talked about,
39:41we talked about genetic testing,
39:43which I know this is all coming all at once.
39:46But when we talk about genetic testing,
39:49you know we talk about the risks
39:51and benefits of genetic testing.
39:53Oftentimes we do now in the era of cancer,
39:57genetics is we do more comprehensive.
39:59We call panel testing.
40:00So looking at genes related to
40:02hereditary breast ovarian cancer,
40:04uterine cancer, colon cancer,
40:06and other cancers so it can be quite a broad.
40:10Range of cancer risk that we're looking
40:13at and we we talked through the patient
40:15about the benefit of genetic testing.
40:17What it means for.
40:19The patient herself,
40:20what it means for her relatives
40:22and what types of cancer
40:23screening and prevention would be.
40:25She might be eligible for
40:27or recommended to pursue,
40:28or what her relatives might
40:31be recommended to pursue.
40:32And I know this is a list of long genes,
40:36but some people might recognize BRCA
40:38one and BRCA two related to hereditary
40:40breast and ovarian cancer syndrome,
40:42colloquially called the Braca genes.
40:44These are often the most common
40:46genes people know about.
40:48And but there are other genes
40:50that we test for related to risk
40:52of risk of breast cancer,
40:54including high risk of breast cancer,
40:56moderate risk of breast cancer.
40:58Lynch syndrome is 1 syndrome that might
41:00be included related to mainly risk
41:03of colon and uterine cancer engines
41:05related to risk of ovarian cancer.
41:07So again this is not a test.
41:09Not expecting to know all these genes
41:11but we look when we look at these
41:14jeans were essentially looking at as
41:17many as possible to rule out as many.
41:19Possible predispositions to cancer,
41:21and we talk about the risk and
41:23benefits of doing testing and this
41:26patient she wanted to pursue testing.
41:28I coordinate that with her Center for
41:31the blood work sent into the lab,
41:33placed the order,
41:34sending all the associated paperwork
41:36for insurance purposes,
41:37and then I got her results.
41:41And she was positive for a mutation
41:45in BRCA one.
41:47Which,
41:48if which was I have to say it
41:51was a little bit surprising,
41:52but if we think back to the family
41:55tree her dad side was small,
41:57BRCA one does have a slightly increased
42:00risk for men for prostate cancer,
42:02so possibly could explain why
42:04her uncle had prostate cancer.
42:06You can see there.
42:07There's another type of result called a
42:10variant of uncertain significance which.
42:12All genetic counselors deal with is
42:14just variation in a gene that has not
42:17yet been classified to cause disease or not.
42:20The lab needs to collect more information,
42:22but it was not clinically actionable.
42:26So for this patient you know it
42:28was a very thorough conversation
42:30about calling the patient with the
42:33results explaining what that means,
42:35explaining recommendations for her,
42:36and then referring to appropriate providers.
42:39So with a BRCA one mutation there
42:41is a recommendation for bilateral
42:43self pinggu for ectomy to remove
42:46the ovaries and fallopian tubes
42:48to prevent against
42:49ovarian cancer risk.
42:50My patient still had her
42:52ovaries and she was only 63,
42:54so something that I placed
42:56a referral for her.
42:58To discuss that surgery.
42:59And then meeting with the breast
43:02and colleges to talk about her
43:04risk of possibly developing a
43:06second breast cancer and how
43:08she would like to proceed with
43:10high risk screening or possibly
43:12a prophylactic mastectomy to
43:13remove to remove the breasts.
43:16And some of her, some of her
43:19relatives did not live in the area,
43:21so I was able to look up on line where
43:24her sister with her sister lived.
43:26Find genetic counselor contact
43:27there and send it to the patient
43:30and then help coordinate relatives.
43:32I live in the area explaining
43:33you know this is our program.
43:35This is our fax number.
43:37Have your relatives primary care
43:39providers fax us a referral.
43:40So really coordinating those information
43:43to get the relatives in for testing.
43:45Documenting phone conversations.
43:46You know a lot of when we talk to a patient,
43:50see a patient.
43:51It's all documented in the medical record.
43:54Notifying the referring provider of
43:55the results just so the provider
43:57is aware and then can be plugged
43:59into the patients treatment or
44:00screening plan right away.
44:02The results are scanned to the medical
44:04record so that can be included,
44:06and then I write up a summary.
44:08I write up a summary letter which
44:10summarizes the results in detail and
44:12include a family notification letter,
44:13which is just a cover sheet that
44:15can be sent to relatives.
44:17Might help aid in giving them
44:19information and giving them ways
44:21to pursue their own testing.
44:23And at our program we present all of
44:25our cases at a case conference where
44:28we review all the cases together
44:30and it's great 'cause we can get
44:32multiple perspectives on from genetic
44:34counselors from a genetic cyst.
44:36Breast specialists that we are part
44:38of a program gastroenterologist.
44:39So really, really,
44:40just discussing these cases as a team.
44:43Which I find very helpful.
44:45So this is 1. This is 1 case, you
44:48know, just one case in the life of
44:51me of a cancer genetic counselor.
44:53But I think this essentially is how I proceed
44:58with all my cases and all my patients.
45:02So thank you so much for your attention.
45:04I think we're just just
45:06a little bit over time,
45:07right on time I will be at the end.
45:10If you have any questions, I don't get too.
45:13I will be at the end for the
45:15general Q&A at 3:25.
45:16That's also my email if I
45:18do not get to your question,
45:20write it down and you can just
45:22send me an email directly.
45:24But thank you so much for your time.
45:29Thanks Amy, that was a great presentation.
45:33As a fellow genetic counselor,
45:35genetic counselor, accurate,
45:37very accurate and now we have Julie
45:40Mclin who will be talking about
45:43reproductive genetics, Julie. OK.
45:58Everyone can see my screen. Perfect.
46:03So again, my name is Julie McClain.
46:06I'm a reproductive genetic counselor at
46:08Yale and I've worked at maternal fetal
46:11medicine for a little over four years now.
46:15And over 90% of the individuals I
46:18work with are considered high risk.
46:22With special maternal and or fetal concerns,
46:26I previously worked at two different
46:29medical centers specializing in
46:31prenatal reproductive, cancer,
46:33pediatric and adult general
46:36genetic counseling services.
46:37So I I feel fortunate that I've
46:41had a chance to experience
46:44many different specialties.
46:46And overall my jobs have predominantly
46:49involved direct patient care.
46:52But I have also engaged in various
46:54clinical research studies as they came
46:56up in the department that I was working.
46:59In addition,
47:00in the past I served as the Director
47:02of clinical Training and the Master
47:04of Science in Genetic Counseling
47:06Program at the Icahn School of
47:09Medicine at Mount Sinai and in the
47:11past 20 years I've had the absolute
47:13pleasure of supervising over 150
47:15different genetic counseling interns
47:17that have been enrolled in various
47:19training programs across the US,
47:21and they have kept me on my toes,
47:24and I think they've taught me as much
47:27as hopefully I have taught them.
47:32So terminology sometimes you'll
47:34hear people use the word prenatal or
47:36reproductive and they are referring to
47:39something slightly different for prenatal,
47:41that's talking about occurring
47:43or existing before birth,
47:45and prenatal care is the health care
47:47women receive during their pregnancy.
47:50Some genetic counselors refer to
47:52themselves as prenatal genetic counselors
47:55because they are predominantly working
47:57with individuals and their partners
47:59while the pregnancy is in progress.
48:01And other genetic counselors refer
48:03to themselves more broadly as
48:05reproductive genetic counselors
48:07because they are collectively working
48:10with individuals who are pregnant,
48:12planning to become pregnant and or
48:14interested in discussing concerns that
48:17arose during a previous pregnancy.
48:21And genetic counselors have played
48:23an important role in supporting
48:26patients to make informed and value
48:29consistent reproductive decisions.
48:31Since prenatal screening and
48:34diagnosis first became possible.
48:36Some common reasons for referral to my
48:39clinic are advanced maternal or paternal age,
48:43meaning that the individual is 35
48:46years or older at the time of delivery.
48:50Personal or family history of a known
48:53or suspected genetic condition,
48:55intellectual disability or a congenital
48:58structural difference such as a congenital
49:01heart defect or cleft lip or palate,
49:03missing kidney, etc.
49:05In a typical fetal ultrasound finding or
49:09prenatal screening or diagnostic results.
49:13Teratogen counseling,
49:14which is when there is concern
49:17about whether a medication,
49:19drug, alcohol,
49:20or environmental exposures prior to or
49:23during pregnancy may impact fertility,
49:26fetal development and or pregnancy outcome.
49:30The individual is a carrier
49:32for an inherited condition or
49:34chromosome rearrangement.
49:36They may have a history of recurrent
49:39pregnancy loss or subfertility,
49:41or infertility.
49:44Sometimes people are planning to
49:47have assisted reproductive technology
49:49to achieve pregnancy or they are
49:52planning to donate eggs or sperm,
49:55either to someone that they know or
49:58anonymously or receive donor eggs or sperm.
50:02Someone has a multifetal pregnancy
50:05like twins, triplets, quadruplets.
50:08People who have are from a specific
50:10ethnic or racial group or geographic
50:12area where there might be a higher
50:15incidence of certain conditions,
50:17such as Tay Sachs disease,
50:19sickle cell disease,
50:20or inherited forms of anemia.
50:22And the people are interested in
50:25having genetic carrier screening.
50:26And then those individuals just have
50:29a general interest in discussing
50:30their test options,
50:31so there's not a particular concern,
50:34but they would like to know what is
50:36available to them or their reproductive
50:38partners prior to or during pregnancy,
50:41and that could include the
50:43genetic carrier screening.
50:45Screening or diagnostic testing
50:47for chromosome conditions etc.
50:50So many reasons for referral but.
50:55There are some common things that happen
50:57during a typical counseling session.
51:00So that would include obtaining medical,
51:03reproductive and environmental
51:05quirks posure histories.
51:07Obtaining a family history of at least
51:10three generations, time permitting.
51:12And documenting all the health concerns
51:15and genetic conditions that are reported.
51:18Explaining the risk for or the
51:20diagnosis of a genetic disorder
51:23or congenital condition.
51:24Educating about the inheritance
51:26of the recurrence risk.
51:28Talking about the benefits,
51:29limitations and risks of their
51:32screening and diagnostic test options.
51:34Perhaps talking about the prognosis
51:37of a specific condition,
51:38the management or treatment?
51:41Prevention and research options.
51:45We often are interpreting results of tests,
51:48discussing the implications,
51:50and talking about possible next steps.
51:53We educate them about assisted
51:56reproductive technologies because we
51:58may only be meeting with them once,
52:00so we perhaps are talking to them about.
52:04The fact that their fetus has
52:06been diagnosed with a particular
52:07condition but before they leave,
52:09we want them to know what they may
52:11want to consider prior to a future
52:13pregnancy and not depend on the
52:15fact that someone else in their
52:17life will relay that information.
52:19And overall we want to support
52:22the individual,
52:23the couple or the family with their
52:26reproductive decision-making.
52:27With regards to the information that
52:29they receive and their personal,
52:31religious and their ethical and moral values.
52:37So the main goals of our genetic counseling
52:40sessions include what I think starting
52:43with number one is establishing repor,
52:46because if we don't establish repor,
52:48it's very hard to accomplish all of
52:51the other goals of the session if not
52:55impossible in some circumstances.
52:58We want to assess their needs,
53:00exchange and discuss relevant information,
53:02so we want to provide
53:04individualized education,
53:04not make them feel that we're
53:07lecturing to them, or you know,
53:09just going through a script that
53:11we provide to every patient.
53:14We try to elicit their thoughts and feelings,
53:17support and promote their autonomy
53:20and making informed decision making.
53:22We provide short term psychosocial
53:24support and patient advocacy and we
53:27identify situations in which additional
53:30medical or psychological referrals or
53:32support services might be indicated.
53:34We try to identify when someone might
53:38benefit from a support or advocacy group,
53:41individual or group counseling,
53:43and when we need to make specialty
53:46referrals to other departments
53:48and sometimes to other genetic
53:50counselors in other specialties.
53:52We try to serve as an ongoing resource as
53:55their needs and desires evolve overtime,
53:58so establishing report is key in order
54:00to encourage them to call us back if
54:03they have additional questions or new
54:05questions or concerns in the future.
54:10What is the typical day like for me?
54:13Well, there are two full time reproductive
54:16genetic counselors at Yale MFM and
54:19at present we do see over 90% of
54:21our patients via video Tele Health.
54:24We each have up to four patients per day.
54:27And the majority of patients are
54:30scheduled in advance and given
54:32appointments within 24 to 72 hours
54:35of when they contacted our office.
54:38Prior to the session,
54:40pertinent records are reviewed.
54:41We do the appropriate research
54:43and this can take anywhere from
54:45approximately 10 minutes to over an hour,
54:48depending upon the indication for counseling.
54:51Some of our patients are added on
54:54to the schedule at the last minute
54:56and seeing 5 to 10 minutes after
54:59they've been referred.
55:00For example,
55:01there could be a patient who came
55:03in for a routine ultrasound and
55:05unexpectedly found out that the fetus
55:07has structural concerns and suddenly
55:10they're being referred to a genetic
55:12counselor to talk about what we seen,
55:15what it could mean,
55:16and what additional testing might be
55:19available to them to try to find out.
55:22The underlying cause.
55:23Of what we've seen in order to guide
55:26them with regard to prognosis and the
55:29chance of a baby having a similar
55:31condition in a future pregnancy.
55:33In those particular sessions where
55:35patients are added on at the last minute.
55:39As you can imagine,
55:41they're usually very understandably upset.
55:43They often have difficulty concentrating
55:46and reduced recall after the session.
55:49And another challenge is that the
55:51genetic counselor often has very
55:53minimal prep time and may need to
55:55contact the patients after the
55:57sessions in order to relay important
56:00information that wasn't available
56:02at the time of the meeting.
56:04So this is another time where
56:07establishing repor is key and kind
56:09of being with the patient where they
56:12are in that moment and assessing how
56:15much follow-up counseling might be warranted.
56:18The average reproductive genetic counseling
56:21session takes about 45 to 60 minutes.
56:24And after the session,
56:25test orders are placed,
56:27we write a console.
56:28Note that we send to both the
56:30referring provider and the patient.
56:32And we may have to conduct
56:35additional research.
56:35Patients might need to be recontacted,
56:38and this follow-up can collectively
56:40take anywhere from 15 to 20
56:42minutes to well over an hour,
56:44depending on the session.
56:45And the remainder of my day is spent
56:48returning emails and telephone messages
56:50from patients and their clinical
56:52providers answering questions from my
56:55colleagues and community providers.
56:57Conducting research for current or future
57:01patients calling out test results.
57:04Preparing upcoming lectures.
57:05Because I lecture every two weeks to
57:08the maternal fetal medicine fellows.
57:10And I try to obtain data for
57:13ongoing clinical research studies.
57:15I perform managerial duties, etc.
57:18So my day can be fairly busy,
57:21even if on the books it may say
57:25I only have 1, two,
57:27or three patients sometimes.
57:30Even with no patience,
57:32the day can be incredibly
57:34interesting and busy.
57:35Overall teamwork is essential,
57:37although I work independently as I provide
57:40direct patient care.
57:41I'm fortunate to work with a much larger
57:44team and maternal fetal medicine.
57:47I work with another genetic counselor.
57:49Administrative assistance,
57:50maternal fetal medicine,
57:51attendings, and fellows.
57:53Nurses, including a really
57:55special nurse who manage,
57:56is the fetal care center program and
57:59helps us to coordinate specialty
58:01consults and testing for pregnant women.
58:04And social workers.
58:05We have a part time social worker who
58:08is available usually within minutes.
58:11If we have a patient that we're working
58:14with that we feel has special needs,
58:16that really should be addressed
58:19prior to the person exiting our
58:21department and getting into their car.
58:24I also routinely refer and consult
58:26with clinical geneticists in
58:28the genetics department at Yale.
58:33So I wanted to. Talk
58:37about one case example that I think
58:39highlights are genetic counselors
58:41roles and how a patient's needs
58:43and desires may evolve over time.
58:45And some background to prepare you
58:47for that case is little genetics 101.
58:51It's estimated that humans have approximately
58:5520 to 25,000 protein coding genes.
58:58And there's something called expanded genetic
59:01carrier screening that is non targeted.
59:04Carrier screening that evaluates
59:06an individual's carrier state for
59:08multiple conditions at once regardless
59:11of ethnicity or racial background.
59:14Some labs offer genetic carrier screening
59:16for hundreds of genes on a single test panel,
59:20and this is something that many obstetric
59:22providers offer to all of their patients,
59:25particularly if they're in the first or early
59:28second part of their trimester or ideally,
59:31prior to becoming pregnant.
59:33So I do have a question for the audience.
59:40An individual in the general US population
59:43has a what percent chance of being
59:46found to be a carrier for at least
59:51one condition on a panel of 274 genes.
59:55Less than one percent 5%. 37% or 64%.
01:00:06Him or give five more seconds.
01:00:23Alright. So that's a pretty
01:00:26good spread and a lot of you. Were correct.
01:00:33So the correct answer was 37%
01:00:36in a large study were found to
01:00:39be a carrier for one condition.
01:00:42Excuse me, 64 percent is the correct answer.
01:00:4437% were found to be a carrier
01:00:47for one condition.
01:00:48But the question was at least one condition,
01:00:51so overall this is with the spread
01:00:53for how many were found to be a
01:00:55carrier for multiple conditions,
01:00:57which is not as rare as people would think.
01:01:02So I realize that I'm going a
01:01:03little over, so I'm just going
01:01:05to pick up my pace a little bit.
01:01:08I had a 41
01:01:09year old woman who was referred
01:01:11for preconception counseling.
01:01:12After she had expanded genetic carrier
01:01:14screening that revealed that she is a carrier
01:01:17for a condition called Wilson Disease.
01:01:18And as with many genetic conditions,
01:01:21particularly those that are inherited
01:01:23in an autosomal recessive way
01:01:26which Wilson send Wilson diseases,
01:01:28carriers are not predicted to be symptomatic,
01:01:31so she was not aware.
01:01:34She was referred for genetic counseling by
01:01:37her reproductive endocrinologist because
01:01:38she was planning to pursue in vitro
01:01:41fertilization due to secondary infertility.
01:01:43An the ender Chronologist wanted
01:01:45her to discuss this in advance.
01:01:47She and her 49 year old partner had two
01:01:50previous spontaneously conceived pregnancies
01:01:51that resulted in full term deliveries.
01:01:54They have two young sons,
01:01:56two years old and five year olds,
01:01:59five years old and they were reported to
01:02:02be healthy and developmentally typical.
01:02:04And they've been trying to conceive the third
01:02:07pregnancy for over one year without success.
01:02:10So Wilson Disease is a disorder of copper
01:02:14metabolism that can present with liver,
01:02:16neurologic or psychiatric disturbances,
01:02:18or a combination of all three.
01:02:21And the symptoms May 1st present between
01:02:24age 3 to greater than 50 years of age,
01:02:27and the symptoms can vary
01:02:30among and within families.
01:02:32The there is treatment that exists that
01:02:35can prevent the development of liver,
01:02:38neurologic and psychiatric findings
01:02:41in asymptomatic affected individuals.
01:02:43And as I mentioned,
01:02:44Wilson disease is inherited in
01:02:46an autosomal recessive manner.
01:02:48If both members of the couple are
01:02:50carriers with each pregnancy,
01:02:52there would be a 25% chance to have an
01:02:55affected child who inherits one copy of
01:02:57the nonworking gene from each parent.
01:03:00A 50% chance to have a child that
01:03:02is an unaffected carrier and a
01:03:0525% chance to have a child that is
01:03:07an unaffected non carrier.
01:03:10And this table shows you quickly
01:03:12what the carrier frequency is
01:03:14among certain populations,
01:03:15the worldwide carrier frequency
01:03:17is approximately 1 and 90.
01:03:22So during the genetic counseling session,
01:03:25I obtained the family pregnancy
01:03:27and medical histories.
01:03:28We discussed the clinical features,
01:03:31an autosomal recessive nature,
01:03:33Wilson disease we talked about,
01:03:35currently available treatment and
01:03:37preimplantation prenatal and post
01:03:39Natal diagnostic test options.
01:03:41And I recommended that her partner
01:03:43have carrier screening for Wilson
01:03:45disease as a non Jewish Caucasian
01:03:47in the general population.
01:03:49He had a one in 90 chance of being a carrier.
01:03:53So prior to him having testing,
01:03:55I did a little math with them and
01:03:58said that their chance of having a
01:04:00child with Wilson disease without
01:04:03having his screening results was.
01:04:05One which is her chance of being
01:04:08a carrier times one in 90.
01:04:10His chance of being a carrier
01:04:12times one and four.
01:04:14The chance that if they were both
01:04:16carriers they would both transmit
01:04:19the disease gene in one pregnancy
01:04:21which came to one out of 360 or .28%.
01:04:25A large part of our session was spent
01:04:27with the patient and her partner
01:04:29expressing how much they regretted
01:04:30that she had pursued expanded carrier
01:04:32screening because they felt that.
01:04:34Her being found to be a carrier
01:04:37was unnecessarily delaying their
01:04:39plans to become pregnant via IVF,
01:04:42and they had a lot of anger and
01:04:45frustration and I tried to listen
01:04:48and validate their feelings,
01:04:50but also explain why they had been
01:04:53referd and help them to understand
01:04:56why their provider thought this
01:04:59was an important step.
01:05:01The husband elect to have carrier screening.
01:05:04He was found to be a carrier for Wilson
01:05:07disease and now their reproductive
01:05:10risk is one in four or 25%.
01:05:12So we spent the next session discussing
01:05:16their options for having in vitro
01:05:19fertilization with some targeted
01:05:21pre implantation genetic testing.
01:05:23Which means that they test a fertilized
01:05:26egg for this specific genetic condition
01:05:29prior to transferring unaffected
01:05:31embryos into the woman's body.
01:05:33And the couple requested that their
01:05:36two children be tested for Wilson
01:05:38disease and a referral to the
01:05:40Department of Genetics was made.
01:05:42Testing of the minor children was
01:05:44coordinated by a genetic counselor,
01:05:46and clinical geneticists in that
01:05:48department and genetic testing
01:05:50revealed that both children are
01:05:52affected with Wilson disease.
01:05:53They were subsequently referred to
01:05:55appropriate specialists for further
01:05:57discussion regarding recommended
01:05:58lifelong treatment and surveillance,
01:06:00and the couple elected to postpone
01:06:02expanding their family until after
01:06:05the immediate medical needs of
01:06:07their children were addressed.
01:06:09Just
01:06:09as a note,
01:06:11we don't typically
01:06:12test minors for genetic conditions,
01:06:14but there are exceptions to that when there
01:06:17is treatment available so that knowing the
01:06:21diagnosis prior to becoming symptomatic.
01:06:24And in situations where they may become
01:06:27symptomatic during childhood is a real.
01:06:30Concern, that is when we would
01:06:34absolutely consider testing a minor.
01:06:37So in conclusion, pregnancy can be
01:06:41many things planned and unplanned,
01:06:44desired or undesired.
01:06:46Wonderful, exciting, scary,
01:06:48anxiety provoking,
01:06:50joyful, depressing.
01:06:52Medically or genetically uneventful
01:06:53or complicated, so many things,
01:06:55and sometimes many of these
01:06:58descriptors are in the same pregnancy.
01:07:00Reproductive genetic counselors
01:07:02have both the responsibility and
01:07:05the privilege of educating and
01:07:07supporting patients who are faced
01:07:09with making difficult decisions prior
01:07:12to and during pregnancy and working
01:07:14with this patient population can be
01:07:17challenging and extremely rewarding.
01:07:23Thank you very much.
01:07:26Thank you Julie. That was a great
01:07:29presentation. I'm wondering that I
01:07:30went over. That's OK,
01:07:32that's OK. There's
01:07:33a lot, a lot
01:07:34to talk about. I'm wondering
01:07:35if I could enlist you to help.
01:07:38There's a couple of questions that I
01:07:40think would be best suited for you,
01:07:42but will let Arpita get on with her
01:07:45cardiology presentation if I could just
01:07:47ask you to maybe help me answer those.
01:07:49Yes, it could be the best person. I will
01:07:52take a peek, thanks.
01:07:56Alright, can you hear me OK? Perfectly,
01:08:00alright, thank you. Thank
01:08:02you Alex and thank you to
01:08:04everyone for being here.
01:08:05I hope you're having a great day.
01:08:07Great afternoon of learning so far.
01:08:09I'm going to try and not speak too fast,
01:08:13but I also know who be mindful of the time.
01:08:18I'll give you an overview of my background
01:08:21a little bit about just how my day or week
01:08:24or month is structured in cardiology.
01:08:27An example from genetic counseling in clinic,
01:08:29and if we still have time we can go over
01:08:34an example from the research that I do.
01:08:38I graduated from the UC Irvine
01:08:40program in 2014.
01:08:41Before that I did my schooling in India
01:08:44and my undergrad degree from Dubai.
01:08:47I mean, I'm technically an
01:08:49engineer in biotechnology,
01:08:50but I have no engineering
01:08:52skills at this point.
01:08:54It's all genetic counseling.
01:08:57After graduating,
01:08:58I worked with some of these lovely folks at
01:09:02the Smilow Cancer Genetics and Prevention
01:09:04program for a little over 2 years.
01:09:07I did give my board exam in 2015 and
01:09:10then from 2017 I've been in internal
01:09:14medicine and cardiology specifically
01:09:17in the cardiovascular genetics program.
01:09:20This pie chart shows how my
01:09:22time is supposed to be spent.
01:09:25You know most of it is supposed
01:09:27to be in patient care in research,
01:09:31about 40% each,
01:09:32and then the remaining split between
01:09:34program development and education.
01:09:36Patient care does overflow,
01:09:38so I don't end up dividing my time
01:09:42as equally as I'm supposed to.
01:09:45Inpatient care I see patients
01:09:47in the inpatient setting,
01:09:49so if they've been admitted to
01:09:51the hospital because of a heart
01:09:54attack or a sudden cardiac arrest,
01:09:56or if win or if they've been referred
01:09:59outpatient so their physician or
01:10:01their general cardiologists picked
01:10:03up on either family history or a
01:10:06personal diagnosis and specifically
01:10:08referred the patient to see one
01:10:11of us in cardiovascular genetics.
01:10:13I work with one position primarily,
01:10:15but we've expanded our services
01:10:17in the last couple of years,
01:10:20and so in a given month I have
01:10:22four to five clinic days,
01:10:25and so that's not a lot when
01:10:27you think of the number of days,
01:10:30but each day we see anywhere between
01:10:338:00 and 12:00 patients, and so on.
01:10:36Mondays I have a genetic counselor
01:10:38only clinic,
01:10:39which is primarily a phone konsult
01:10:41for patients or family members.
01:10:43And then on Fridays I'm in the
01:10:46MD clinic where you know both of
01:10:48us have to see the patient.
01:10:50We have 40 minutes to complete the konsult.
01:10:54We see primarily adults,
01:10:55but we do see children there.
01:10:58Either the children off our
01:11:00patient or their children,
01:11:01you know referred by the
01:11:03Feed specialty group,
01:11:04and then in our clinics we see all
01:11:08indications I'll talk a little
01:11:10bit more about that later on.
01:11:12There are some cardio GCS that specialize or,
01:11:15you know,
01:11:16tend to focus on one in the
01:11:18indication within cardiology instead
01:11:20of seeing all indications.
01:11:22But mine is a bit more general.
01:11:27For research,
01:11:27it really depends on the project.
01:11:29There are some projects where I
01:11:31am involved from start to finish,
01:11:34but then there are other projects
01:11:35where I only do part of it and so
01:11:38I help develop or manage research
01:11:40protocols either for the physician
01:11:42that I work with or help some other
01:11:46groups figure out how to get data.
01:11:49Times consenting patients
01:11:50for these research studies,
01:11:52I'm sometimes analyzing
01:11:54their broad genetic data,
01:11:56which is the an Excel sheet for the
01:11:59most part that you get from sequencing.
01:12:03In this excel sheet can have anywhere
01:12:06between 60,200 and 20,000 rows.
01:12:08You can narrow it down using
01:12:11certain protocols,
01:12:12but you know we would analyze
01:12:14that to find new jeans or new
01:12:18mutations for certain indications.
01:12:20I mean then,
01:12:21sometimes I'm helping draft
01:12:23a paper or a poster.
01:12:25Sometimes I'm only doing the
01:12:26statistical analysis and not
01:12:28really drafting the manuscript.
01:12:30So it depends on the project.
01:12:33Hope so.
01:12:34For program development,
01:12:35the two main things I tend to do
01:12:38our train admin because a number of
01:12:41referring providers have gone up by help.
01:12:44You know.
01:12:44Develop triage Ng workflows and
01:12:46help them figure out you know which
01:12:49patient is appropriate for which clinic,
01:12:51and then we have a weekly case
01:12:54conference that I lead about
01:12:5615 different positions and
01:12:57advanced practice providers.
01:12:59Attend that,
01:12:59but up to 27 are part of it and so this is.
01:13:04To discuss important or difficult cases,
01:13:06come to you, know a consensus.
01:13:09If providers have differing opinions
01:13:11on how to follow somebody, I mean,
01:13:14so that's every Wednesday for an hour.
01:13:18And then in terms of education
01:13:20or supervision,
01:13:21this might include clinical
01:13:23rotations for graduate students.
01:13:25For example,
01:13:25the Bay Path program sends
01:13:27new students once in awhile.
01:13:30It might include genetics,
01:13:31education for postdoctoral fellows
01:13:33who are working on projects
01:13:35that have a genetics component.
01:13:37So the physician that I work with has a
01:13:40cardiology lab with several postdocs and pH.
01:13:44D students.
01:13:44So then I would be involved
01:13:46from an education perspective.
01:13:49And then occasionally mentoring or being
01:13:51part of the committee for a grad students,
01:13:55pieces or Capstone project.
01:13:58I'll talk a little bit more about
01:14:00the clinical indications it used
01:14:03to be divided into Mendelian,
01:14:04which is a single gene cause of
01:14:07disease and non Mendelian where
01:14:09there are multiple factors that
01:14:11can increase the chance for
01:14:13somebody to have heart disease.
01:14:15But the lines are blurring many of the
01:14:18Mendelian conditions are being found to
01:14:21have multiple components in the risk,
01:14:23and so you may have heard of Marfan syndrome.
01:14:27That's the one.
01:14:28People tend to hear about most
01:14:31commonly a lot of times you know.
01:14:33People are told.
01:14:34If you're tall and thin,
01:14:36go get evaluated for Marfan syndrome,
01:14:39but there's a lot more to it than that.
01:14:42Connective tissue disorders
01:14:43essentially include your bone
01:14:45and your joints in your skin,
01:14:47and there might be complications
01:14:49with bleeding in some forms
01:14:51of these conditions.
01:14:53Cardiomyopathies are structural heart
01:14:55diseases, so the heart muscle itself
01:14:58may be too big or too thin or too
01:15:03weak to pump blood efficiently.
01:15:06Arrhythmias are most commonly
01:15:08called palpitations or A-fib,
01:15:10but there are specific inherited conditions
01:15:13where you could have cardiac based,
01:15:17fainting or cardiac arrests.
01:15:19Familial hypercholesterolemia
01:15:20is the most well known or well
01:15:23described inherited heart disease
01:15:25where your cholesterol tends to be
01:15:28really high from a really young age,
01:15:30usually above 190 MG per DL.
01:15:32So that's you know it can be high,
01:15:35but that doesn't mean it's
01:15:37familial hypercholesterolemia.
01:15:38There are certain cut offs that we
01:15:41use for risk assessment and then
01:15:43there are other syndromes where
01:15:46the cardiac component is just one
01:15:48part of it and so we might do the.
01:15:51Genetic counseling or the genetics
01:15:53evaluation with the cardiac part
01:15:55in mind and then refer to general
01:15:58genetics for more long term follow-up.
01:16:00Non mendelian examples.
01:16:02Hypertension or high blood pressure is
01:16:04a common one coronary artery disease
01:16:08without familial hypercholesterolemia
01:16:09is something we see quite often,
01:16:12and then there are other structural
01:16:15heart diseases that come across we I
01:16:18personally don't do congenital heart
01:16:20defects in the newborns or infants.
01:16:23That's something either general
01:16:25genetics or Pediatrics would do.
01:16:28I believe I don't do congenital
01:16:32heart defects.
01:16:33Now that we've had some time to
01:16:35look at a few different examples,
01:16:38I think it's a good time for the first pole.
01:16:42So when you think of all the
01:16:45different types of heart diseases,
01:16:47whether it's a cardiomyopathy
01:16:48or high cholesterol,
01:16:50what is the estimated prevalence?
01:16:52How common do you think these conditions
01:16:54are in the general population?
01:16:57Is it quite rare that one in 10,000?
01:17:01Is it one in 1001 and 500 or one and 200?
01:17:06Your best guess?
01:17:12We get five more seconds.
01:17:23Results are coming in so most of
01:17:26you said one in 500. The actual
01:17:29numbers one and 200.
01:17:31It's actually a lot more common than we
01:17:35realize when you Add all of this together,
01:17:38and so familial hypercholesterolemia
01:17:40that I talked about,
01:17:42it goes undiagnosed so often
01:17:44because people may not realize they
01:17:47have high cholesterol and that's
01:17:50about one in 200 to one and 250.
01:17:53So when you add up everything,
01:17:55that's the number we tell people
01:17:57when they're interested in learning
01:17:59about inherited heart diseases.
01:18:01In terms of on my slide,
01:18:04isn't there you go in terms of my role?
01:18:07I do a lot of the standard,
01:18:10no genetic counseling activities
01:18:12or like tasks in a session that
01:18:15most other clinical genetic cancer.
01:18:17Patient facing genetic counselors do.
01:18:19So I want to go over this and
01:18:22other speakers have covered this,
01:18:25but a few things I do in addition,
01:18:28which I hadn't before,
01:18:30are specifically related to.
01:18:31Image Ng Records and blood tests.
01:18:34And so a lot of times we will
01:18:36specifically require documentation from
01:18:38family members or medical records.
01:18:40You know,
01:18:41if they've had a MRI or you know
01:18:44blood work for their cholesterol will
01:18:46ask to see that you know they'll
01:18:49have to give us permission to either
01:18:52look in the chart or send it to us,
01:18:56because the symptoms and heart
01:18:58diseases are so generic,
01:18:59you could have palpitations for
01:19:01a non genetic visan.
01:19:03Or you could have it as part
01:19:06of a genetic condition,
01:19:07and so the symptoms are quite vague.
01:19:09Cardiac arrest means something
01:19:11very different from heart attack,
01:19:13but people use it intermittently quite often,
01:19:15and so if you tell me somebody
01:19:17had a heart attack,
01:19:19it was a male that had a heart attack at 55.
01:19:23That's not necessarily as concerning to me
01:19:26as a male that had a cardiac arrest at 55,
01:19:29and so we will often ask to look
01:19:32at family members, image Ng,
01:19:34or Surgical Records.
01:19:35Or even an autopsy report if that's possible,
01:19:38because arrhythmia is a process of exclusion,
01:19:40and so the autopsy couldn't find
01:19:43anything in a deceased family member.
01:19:45But the medical examiner might
01:19:47say it was likely an arrhythmia.
01:19:50We will often ask the patients
01:19:52to get certain screenings before
01:19:54we do genetic testing on them.
01:19:56We might look at their cholesterol panel,
01:19:59glucose and blood pressure.
01:20:01Blood pressure can have an impact
01:20:03on many different heart diseases,
01:20:05including genetics.
01:20:06So the cardiomyopathy, sometimes there is,
01:20:08sometimes blood pressure is a risk
01:20:10factor and then the connective tissue
01:20:12diseases can also be impacted by blood.
01:20:15Pressure levels will often ask
01:20:17them to get an EKG or an MRI.
01:20:20Or calcium score,
01:20:21which is essentially a CT scan to look
01:20:24for calcium deposits to see if they
01:20:26have any signs of coronary disease.
01:20:28And then I also sometimes
01:20:30call out these results.
01:20:31My scope is very limited in this.
01:20:33I can only call out certain types
01:20:36of results and so for a subset of
01:20:38patients I called them out myself.
01:20:41But then for most other patients
01:20:42I review it with
01:20:44the physician before
01:20:45calling out these results.
01:20:48The case example I have is for arrhythmogenic
01:20:51right ventricular cardiomyopathy.
01:20:52It's a really long name.
01:20:55It's actually short, and nowadays it's
01:20:57called arrhythmogenic cardiomyopathy.
01:20:58It's one of the more rare conditions,
01:21:01and it's inherited in a dominant manner,
01:21:04so one genetic mutation is theoretically
01:21:07enough for somebody to have this
01:21:10condition over their lifetime.
01:21:11Essentially, what happens in this
01:21:13is now your heart is a tissue.
01:21:16It's made up of specialized.
01:21:19Cardiac cells,
01:21:19but in this condition that
01:21:22tissue is progressively replaced
01:21:24with fat and scar tissue,
01:21:26and that affects the integrity
01:21:28of the heart structure.
01:21:29It's not able to pump blood as efficiently,
01:21:33and so maybe it's struggling to,
01:21:36you know, keep a certain rhythm.
01:21:38You can have syncope or presyncope,
01:21:41which are essentially
01:21:42fainting and Lightheadedness,
01:21:43not the normal fainting
01:21:45that most children have.
01:21:47This you know there are differences
01:21:49in cardiac fainting and vasovagal.
01:21:52Painting you can have palpitations
01:21:54or sudden death and sudden.
01:21:56That doesn't mean that somebody is deceased,
01:21:58but they could be revived or resuscitated,
01:22:01but this is typically what we
01:22:03ask for in a family history.
01:22:07There are medications for treatment.
01:22:09There are lifestyle modifications.
01:22:10This is 1 specific example
01:22:12where somebody is an athlete.
01:22:14Bay may get a strong recommendation
01:22:16to either reduce the intensity or
01:22:19frequency of their sport because
01:22:21exercise and activity can be a
01:22:23trigger for a rythmia and then
01:22:25you know shared decision making.
01:22:27Such is such an important part
01:22:29of all our conversations.
01:22:31Somebody may choose to keep playing that
01:22:34sport but with an ICD which is like a little.
01:22:37Pacemaker that helps regulate heart rhythm.
01:22:41And so this particular example,
01:22:44the mail with this arrow here,
01:22:46had come into our clinic.
01:22:48Then 11 years ago I wasn't part of the team.
01:22:53Then he came in because his son,
01:22:56who is down here,
01:22:58had a sudden cardiac arrest at
01:23:0129 and did pass away from that.
01:23:03And the autopsy showed some fibrosis
01:23:06and fatty replacement at that time.
01:23:09Genetic testing was done on the.
01:23:11Pearl Bank,
01:23:12the presenting person in the family.
01:23:15They looked at 10 different genes
01:23:17and it was completely negative.
01:23:20They came back to us more recently
01:23:22last year because another son had a
01:23:25cardiac arrest at 42 and was in the
01:23:28hospital and eventually did possibly,
01:23:30and so you know the concern was that
01:23:33you know this is now clearly inherited.
01:23:36We don't know what the genetic causes,
01:23:39'cause testing was negative and there
01:23:41are all these other family members
01:23:43that were not evaluated in the past.
01:23:46In the past it was just that
01:23:49one person because he had.
01:23:51The connecting relative his
01:23:52brother had a fib,
01:23:53which can sometimes be a symptom and
01:23:56his son had the sudden cardiac death.
01:23:58But now we don't know.
01:24:01And so one question on this,
01:24:03and that's I think the next poll is,
01:24:07you know,
01:24:07there are so many you know people
01:24:10involved from the next generation,
01:24:12so this is pulled to when
01:24:14do you think clinical screening or
01:24:16treatment typically starts for the
01:24:18most common inherited heart disease?
01:24:20And I know I've said this is rare,
01:24:23but in general is it, you know,
01:24:26in infancy and early childhood,
01:24:28so between birth and five years 6 to 12.
01:24:31A dollar since 13 to 18 adulthood.
01:24:35Early adulthood 18 to 34
01:24:37or 35 years and older.
01:24:47And will give five more seconds.
01:24:52Skype.
01:25:00The 18 to 34 years.
01:25:01That's what I used to think do.
01:25:04And you know,
01:25:05a lot of times that is the experience.
01:25:08I guess in cancer genetics,
01:25:10you know it's primarily adult
01:25:11onset and that was my background.
01:25:14It's actually 6 to 12 years in cardiology
01:25:16we can initiate cardiac screening
01:25:18because we are seeing more and more
01:25:21that it goes undetected around age 8.
01:25:24And our physicians even want
01:25:26to start earlier if they can.
01:25:28For example, for high cholesterol,
01:25:30you could theoretically start
01:25:31treatment between age 10 and 12.
01:25:33If they have really high cholesterol
01:25:36because the amount of time you're
01:25:38exposed to high cholesterol is what
01:25:40determines how much risk you have
01:25:43for coronary disease and then for
01:25:45cardiomyopathies which we're talking
01:25:47about screening the start around age 8 or so,
01:25:50and you know we plug them in earlier,
01:25:53and so in this particular family.
01:25:56Like there were many individuals that
01:25:58could benefit from screening even if
01:26:01there is no genetic cause identified,
01:26:03you would want to screen in the close
01:26:06relatives with EKG's or Mris in this case.
01:26:09And so the things we talked about
01:26:12for all of them included the genetic
01:26:15test results from 10 years ago,
01:26:17which were negative know what is their
01:26:20value in repeating that testing now.
01:26:22And the answer is yes.
01:26:25We found out that one of the
01:26:28children actually ended up having
01:26:30some genetic testing few years ago,
01:26:32and it was an uncertain result.
01:26:34The VUS is a variant of uncertain
01:26:37significance where there is a variant,
01:26:39but we just don't have enough
01:26:41information on it to know whether
01:26:44it's the cause of the condition or
01:26:46whether it's completely benign.
01:26:48We may be having just seen it
01:26:50enough number of times before,
01:26:52and so we went over those results.
01:26:55Logistic issues.
01:26:56The 42 year old who had the heart
01:26:58the cardiac arrest recently was in
01:27:01a completely different hospital and
01:27:03so we had to figure out how to get a
01:27:06sample which physicians to coordinate
01:27:07with where to even send the testing.
01:27:10Would insurance cover it or not?
01:27:12Thankfully,
01:27:12we have some free genetic testing
01:27:14options in cardiology that we're able
01:27:16to access for a lot of situations,
01:27:18and so you know that was not a
01:27:21big challenge for us in this case.
01:27:24That genetic testing from the 42
01:27:27year old did identify two VUS is
01:27:29the one that had been identified
01:27:31before and another one.
01:27:33So going over the fact that it's still,
01:27:35you know, an uncertain result.
01:27:37Is there any utility in testing other people?
01:27:40You know?
01:27:41We do something called segregation
01:27:43analysis which has a research component
01:27:45where we're trying to see is it
01:27:47tracking with symptoms in a family.
01:27:50And then you know,
01:27:51we have to figure out who is
01:27:54the best person to.
01:27:55Best in this scenario,
01:27:56if we want to do segregation analysis
01:27:59and then psychosocial issues,
01:28:00the mom of the two sons who passed away,
01:28:03you know she had not been
01:28:05evaluated in the past
01:28:06and so there was a lot of guilt
01:28:08and frustration over the fact
01:28:10that you know there was no follow
01:28:12up for her side of the family.
01:28:14Clinically, there had not been a
01:28:16reason previously, but you know,
01:28:18obviously we're redoing everything
01:28:19at this point and so the focus
01:28:22on one side of the family I had
01:28:24to shift from looking at.
01:28:25All the relatives who are closely
01:28:28related to the individuals that had
01:28:30the sudden cardiac arrest and death.
01:28:32I don't think we have too much
01:28:35time for the research example.
01:28:37I'm just going to say that you know
01:28:39my role really depends on the project,
01:28:42and these projects can take years.
01:28:44This was started in.
01:28:46This particular example was started in
01:28:482015 and we're just about submitting
01:28:50revisions for a publication.
01:28:51It started off with one symptom
01:28:54and then now you can see from the
01:28:56different colors there are different
01:28:58symptoms in different people.
01:29:00Two different genetic mutations that
01:29:01we're tracking so it can take a lot of time.
01:29:05But it's you know,
01:29:07a very enriching experience,
01:29:08and so that's where I leave it.
01:29:10If we have time for questions,
01:29:12I'm happy to take them.
01:29:14Or you can email me or I'll
01:29:16be around at the end as well.
01:29:18Thank you.
01:29:21Things are pretty great talk
01:29:22and there were a couple
01:29:24of questions for you. I think.
01:29:26Same with Julie if I could just
01:29:28direct you to the Q&A portion.
01:29:30And of course at the very end will
01:29:33have more time to talk about it,
01:29:35but I'll let I think it's Samantha.
01:29:37You're up next.
01:29:40OK.
01:29:45Right?
01:29:47Nobody see my screen. Excellent,
01:29:50OK, so my name is Sam.
01:29:52I work in the genetics
01:29:54department here at Yale.
01:29:56You may have heard some folks say clinical
01:29:59genetics or clinical genetic counselor.
01:30:02That's my department,
01:30:03so I'll kind of go into.
01:30:07What we do and how we differ
01:30:10maybe from other specialties?
01:30:14Just briefly on my background,
01:30:16I went to undergrad at UConn go Huskies.
01:30:20I then went to the University of
01:30:24Pittsburgh for Graduate School.
01:30:27Created in 2017,
01:30:29I took a job at Connecticut Children's
01:30:33where I was a Jack of all trades.
01:30:37I was involved in pediatric genetics clinic.
01:30:43Take Children's Hospital
01:30:44so our pediatric patients.
01:30:46I also saw patients in the
01:30:48neurology clinic so I was doing a
01:30:51little bit of neurology as well.
01:30:53Also doing a utilization management
01:30:55type of role where there was
01:30:57essentially a consultation service
01:30:59they would other providers in different
01:31:01specialty areas would contact me.
01:31:03Say hey,
01:31:04what's the best genetic test for XY
01:31:07and Z symptom or for this patient and
01:31:10I would kind of help navigate that.
01:31:13Process.
01:31:13I also did a little bit of
01:31:17qualitative research there too,
01:31:19and just last year I tried to
01:31:22simplify my role as being more of a
01:31:26general genetics genetic counselor.
01:31:28So here working at the School of Medicine.
01:31:33So briefly.
01:31:36General Genetics is kind of
01:31:40a catchall phrase.
01:31:42We really see individuals with genetic
01:31:45conditions really throughout the lifespan.
01:31:49Arbiter was talking about.
01:31:50She sees patients and they have.
01:31:53Cardiology manifestations,
01:31:54folks.
01:31:54Cancer genetic counselors have
01:31:57patients that they'll see with a.
01:32:01Personal or family history of cancer.
01:32:03We see pretty much everything
01:32:05else outside of that,
01:32:07so we don't necessarily specialize in
01:32:10a disease area or a group of diseases.
01:32:13We see patients from birth until the oldest
01:32:16patient I've ever seen was 85 years old.
01:32:19So we see, you know,
01:32:21throughout the lifespan,
01:32:23for sure.
01:32:24General genetics can sometimes be broken
01:32:27up into pediatric and adult genetics,
01:32:29depending on the health care
01:32:31system and how it's broken down.
01:32:33We here at Yale we we just
01:32:36works called General Genetics.
01:32:38One thing I really like about
01:32:41general clinical genetics is
01:32:42we were the folks that kind of
01:32:45manage the ultra rare diseases.
01:32:47So the cases where there are 15 reported
01:32:50cases in the literature or what have you.
01:32:53So we have the opportunity
01:32:56to serve those patients.
01:32:57And the goal for us is we're really
01:33:01trying to answer this question.
01:33:03Here is.
01:33:04Is there an underlying or a
01:33:06unifying diagnosis for a person's
01:33:08medical or family history?
01:33:10So I kind of have that emphasized
01:33:12down here in this little pedigree.
01:33:15So this was a patient who had two, you know,
01:33:19seemingly unrelated medical issues,
01:33:21low calcium in her blood,
01:33:23and a congenital heart defect with a
01:33:26father that had a history of a cleft
01:33:29pallet so they don't really seem related.
01:33:33From a medical standpoint,
01:33:34but there's actually a pretty
01:33:37common genetic condition that you
01:33:39know that's almost pathognomonic
01:33:41for for that condition.
01:33:43So we see
01:33:45like I said, we see a
01:33:47lot of different things.
01:33:49One of the some of the more common
01:33:52referrals will see are folks who
01:33:54aren't little kiddos who aren't meeting
01:33:57their developmental milestones.
01:33:59Folks that have a diagnosis of
01:34:02autism or intellectual disability.
01:34:03Children who have congenital anomalies
01:34:06or congenital structural differences.
01:34:09Folks that have inborn errors of
01:34:11metabolism are not really going to get
01:34:14into the meat and potatoes of today,
01:34:17but those folks have a hard
01:34:19time breaking down certain fats,
01:34:21proteins, or carbohydrates.
01:34:24And also many control disorders.
01:34:25Mitochondria, the powerhouse of the cell.
01:34:27As we all know.
01:34:30There are specific management condition
01:34:32management options for for those
01:34:34patients that we follow and then
01:34:36also connective tissue disorders
01:34:37that are put out talked about.
01:34:39Just a minute ago.
01:34:42So I'm just going to talk to you a
01:34:45little bit about the nuts and bolts
01:34:48of what we do on a daily ish basis.
01:34:51So I have three half day clinics where
01:34:54I will see patients for a variety of
01:34:57indications that I just talked about.
01:34:59I see them with a Jeanette Assist and I
01:35:02think it may have talked about this briefly,
01:35:05but sometimes you know genetic counselors
01:35:08work with physician who has either
01:35:10specialized training in a special disease.
01:35:12Area.
01:35:14For her cardiology for us we
01:35:18work with geneticists.
01:35:20We see probably an average
01:35:22of 20 patients a week,
01:35:24so it's a pretty good volume.
01:35:26We also have the opportunity
01:35:29to do inpatient consultations,
01:35:30so if there is a baby that's born with
01:35:33congenital structural differences and
01:35:35the team in the inpatient unit wants
01:35:39to start working them up for a genetic cause,
01:35:42we'll go and do a consultation
01:35:45for them for that.
01:35:48And what's really nice is that in
01:35:50general genetics we have a bunch
01:35:53of different types of healthcare
01:35:55professionals working with us,
01:35:57so not only genetic counselors
01:35:59and geneticists,
01:35:59but nurses dieticians like I sent
01:36:02for those metabolic conditions
01:36:04where there might be certain
01:36:06dietary management options.
01:36:09We also have social workers that
01:36:11work with us really closely and
01:36:14doctors in other specialties that
01:36:16we work with pretty closely as well.
01:36:19We also work with researchers
01:36:22genetics here at Yale we have.
01:36:25Researchers you know,
01:36:26kind of at our disposal,
01:36:28which is really nice too to get patients
01:36:31involved in research if they like.
01:36:34Some of the other admin stuff
01:36:36that we do when we're not seeing
01:36:39patients like Julie said we do a
01:36:41lot of pre charting in case prep.
01:36:44We work on genetic testing efforts
01:36:46so it's a little bit harder to get
01:36:49genetic testing covered for some
01:36:51of the rare things that we see,
01:36:54I think insurance companies
01:36:55are slowly coming around.
01:36:57It's not as clear cut sometimes as you
01:36:59know how particular medical management
01:37:01would change for a particular patient.
01:37:04And so,
01:37:05like I said,
01:37:06insurance authorizations are a
01:37:08part of that as well,
01:37:09and because of our results,
01:37:11sometimes they're little in depth,
01:37:13and because we see so
01:37:15many different types of things,
01:37:16it usually takes us some legwork to
01:37:18be informed and to be knowledgeable
01:37:21enough on a particular result
01:37:23before calling out a result or
01:37:25following up with a patient.
01:37:27So we do a lot of digging
01:37:30medical research on our end.
01:37:32Before communicating with the patient.
01:37:35So I'm going to talk real quick
01:37:38about a patient that we saw I saw
01:37:41with a Doctor Who is an OBGYN and
01:37:44a genetic test. Xi'an, I
01:37:47saw this patient.
01:37:48She is an 8 year old female.
01:37:51She had come to us because she
01:37:53wasn't growing the right way
01:37:55or growing the way that her
01:37:57pediatrician thought was appropriate.
01:37:59Upon taking some history we
01:38:01learn that she has some mild
01:38:03learning difficulties in school.
01:38:05I didn't throw in a pedigree here but
01:38:08there wasn't any significant family
01:38:10history for us to be cognizant of.
01:38:14And the two tests that we ordered
01:38:16are called chromosome analysis
01:38:18and a chromosomal microarray,
01:38:20both of which are really addressing
01:38:23the question of does a person have the
01:38:27correct amount of genetic material?
01:38:29So I'm going to throw up our poll.
01:38:32So I'm wondering,
01:38:34and it's OK if you guys don't know this.
01:38:37No pressure,
01:38:38but does anybody know the most common
01:38:41genetic cause of short stature in females?
01:38:52We'll just let that go.
01:38:58I keep feeling bad 'cause I know
01:39:00I'm cutting people off who might
01:39:01be seriously thinking about it,
01:39:03but I'll stop in five seconds.
01:39:08OK, I'm sorry.
01:39:12OK, what do we have?
01:39:15Turner syndrome is correct.
01:39:17Alright, yeah.
01:39:17So I'm going to be talking a
01:39:20little bit about Turner syndrome.
01:39:23Those other conditions do
01:39:25have short staffed shahraz.
01:39:27A clinical features well,
01:39:29but Turner syndrome is by far
01:39:32the more the most common and this
01:39:35is a picture of not our patients
01:39:38karyotype or chromosome analysis,
01:39:40but as an example of one for
01:39:43classical Turner syndrome,
01:39:44folks are supposed to have 46 chromosomes
01:39:48and four classical Turner syndrome.
01:39:51I only have One X chromosome.
01:39:56It occurs in approximately 1 in
01:39:592000 live births, so with this
01:40:01test result we're able to say yes.
01:40:03We answer the question of why this
01:40:06patient isn't growing the right way.
01:40:09You know there are other features
01:40:11that are associated with Turner
01:40:13syndrome that I listed here.
01:40:14Things like congenital heart defects,
01:40:16congenital renal anomalies,
01:40:17or how the heart and kidneys are shaped.
01:40:21There are some increased risks of
01:40:24particular conditions like diabetes,
01:40:26thyroid problems,
01:40:27the most striking thing that
01:40:29comes along with Turner syndrome.
01:40:32When we I diagnosis in a young girl
01:40:36is typically they have streak ovaries
01:40:39which is just a fancy way of saying
01:40:43very underdeveloped ovaries and
01:40:46they result in diminished fertility.
01:40:49So you know we had the opportunity
01:40:51to kind of disclose this result
01:40:53and we see Turner syndrome pretty
01:40:56regularly in clinic,
01:40:57so we were able to kind of say,
01:41:00OK, we have an understanding for
01:41:02why this patient isn't growing
01:41:04the way we were expecting,
01:41:05but we also now have these other
01:41:09medical things to follow up on.
01:41:12And that's kind of where you know
01:41:14genetic counseling and genetic
01:41:15counselor in conjunction with a lot
01:41:18of other medical providers is really
01:41:20helpful so you know what I as a
01:41:23genetic counselor will do is when I
01:41:25see the patient for a first time,
01:41:28one of the first things I want to
01:41:30do is figure out you know what
01:41:33their concerns are like.
01:41:34Julie said,
01:41:35creating and establishing that repor with
01:41:38them understanding of you know what?
01:41:40Brings them to see us with their
01:41:43interests are collecting all of
01:41:46that important history.
01:41:47Discussing the risks, benefits,
01:41:50and limitations of genetic testing.
01:41:53How we return these genetic results
01:41:56is usually something that I will
01:42:00do usually independently.
01:42:01And in that for Turner Syndrome
01:42:04in particular,
01:42:04there are really good medical management
01:42:08guidelines that we can kind of defer to.
01:42:11Discussing things like inheritance
01:42:14and recurrence risk for the family
01:42:17and for our patient.
01:42:19And that's you know,
01:42:21a pretty challenging type of dynamic,
01:42:23especially in clinical genetics
01:42:25that might not be.
01:42:28There's a little bit of a nuance
01:42:30and how to do some counseling for
01:42:32adolescents and children who are of
01:42:35the age of being able to understand
01:42:38what we're talking about and how
01:42:40to manage those conversations.
01:42:43And for our for this particular case,
01:42:46we have a great multi disciplinary clinic
01:42:48that we were able to refer the patient to.
01:42:52Where we would continue to manage them.
01:42:56Times clinical genetics.
01:42:57We kind of think of as a primary care
01:43:01Center for folks with genetic conditions,
01:43:03so we make sure that patients are following
01:43:06up with the endocrine doctor or cardiologist,
01:43:09or getting all of the image in that
01:43:12needs to happen, or what have you
01:43:15for a particular genetic condition.
01:43:17And one thing that we really focus on
01:43:19two is how to communicate that diagnosis
01:43:22with all of the right people. How are we?
01:43:27You know, for pediatric patients,
01:43:29is there a necessity to disclose
01:43:32these results to a school?
01:43:35Because if it's going to impact
01:43:38their learned patience,
01:43:39learning or added justification to get
01:43:42extra services in the school setting,
01:43:45that's something that we regularly do then.
01:43:49Also, communicating these results to other
01:43:52family members and other medical providers,
01:43:55primary care,
01:43:56and pediatricians I've found have.
01:43:59I don't have as much of a breadth of
01:44:03understanding of genetic conditions and
01:44:05how they can manifest in children an adult,
01:44:09so that's something that will,
01:44:11often, you know,
01:44:12kind of explain to them through
01:44:15different types of documentation.
01:44:18So yeah, so that's all I have.
01:44:20I would be more than happy to.
01:44:23I don't think I'm running overtime.
01:44:25My genetic counselor counterpart,
01:44:27Emily.
01:44:27She's going to be answering some questions
01:44:30in the Q&A this afternoon on my behalf.
01:44:33I have to go over to the clinic,
01:44:36but if anyone is interested in
01:44:38reaching out to me personally,
01:44:40my email is there and would be more
01:44:43than happy to answer any questions.
01:44:46Thank you thanks
01:44:48him. One of
01:44:49my supervisors at my genetic
01:44:53counseling program used to
01:44:54call clinical genetics,
01:44:55boss level genetics and
01:44:57inflation reminded me why.
01:45:01Good, I'll hand it over to Anthony.
01:45:03Thanks again.
01:45:05Alright, so my
01:45:06name is Anthony Porto.
01:45:07I am aging that counselor here at
01:45:10the Yale DNA lab until giving you.
01:45:12I'll be giving him more of a perspective
01:45:14on a non patient caring genetic counselor
01:45:17and what that role is kind of like.
01:45:20So as a quick outline, I'll be giving
01:45:23a brief introduction to myself,
01:45:24going over kind of a day as a
01:45:26laboratory GC is like and then giving
01:45:29a quick case example for that.
01:45:31So I did my graduate studies in genetic
01:45:34counseling at Northwestern University.
01:45:36This position at Yale is my first
01:45:39into graduating as I graduated
01:45:41in the class of 2020.
01:45:42So my position here is primarily just
01:45:45to act as agent counselor for the lab
01:45:48and I'll get into more about what
01:45:51the specific details are that are as
01:45:53compared to a clinical GC as we go.
01:45:57And so my really main point on this
01:45:59that I wanna talk about is just.
01:46:02What are the responsibilities as well
01:46:05as the utility of having a genetic
01:46:08counselor in the lab to coordinate
01:46:10with the clinical genetic counselors?
01:46:13Before we get started all about,
01:46:15though,
01:46:15I want to hear what you think are
01:46:17possible duties that a lab GC could have,
01:46:19so will give you a quick poll to
01:46:21see what you all think.
01:46:28Oh, and you can select multiple choices.
01:46:30You don't just have to pick
01:46:32one for the best question.
01:46:36This one involves a
01:46:37little more reading, so maybe I'll go.
01:46:41Sorry, I made a long question.
01:47:01We can say.
01:47:04Five more seconds.
01:47:14OK.
01:47:18So. Lot of answers for a lot of them,
01:47:22so I was kind of being tricky.
01:47:25The short answer is that all
01:47:27of these potentially can be a
01:47:28role of a lab genetic counselor.
01:47:31When I will call out is calling
01:47:33out patients isn't very common
01:47:34for labs that counselors.
01:47:36That's mostly left to the clinical team.
01:47:38However, there are some labs that are
01:47:41starting to expand into that role,
01:47:43so want to point out that that
01:47:45was a possibility for people that
01:47:47you could all be aware of it.
01:47:54So as a day in my position,
01:47:57specifically here at Yale,
01:47:58I don't have any direct patient contact.
01:48:01My role is specifically to facilitate
01:48:04with the clinical GCS what the
01:48:06laboratory can do and help them in that
01:48:09which involves helping with ordering,
01:48:11testing, helping with getting insurance
01:48:13coverage and just making sure that
01:48:16the overall process of getting
01:48:18that testing done goes smoothly.
01:48:20So I would say I have.
01:48:22Three main responsibilities
01:48:23that I do in my day today.
01:48:26The first is helping the insurance
01:48:28team and working with the
01:48:29providers to get testing authorize.
01:48:31The second is coordinating with
01:48:33providers more generally UN testing
01:48:35and that can be on the type of
01:48:37testing or how to order it or however,
01:48:40and then the last thing is really
01:48:42working with the laboratory staff
01:48:44and sort of quality control
01:48:46continuing improvement of the lab
01:48:48and just making sure that the lab
01:48:50policies and procedures are moving
01:48:53as smoothly as possible.
01:48:55So not surprisingly,
01:48:56I don't work very independently.
01:48:58I'm a part of the team here at the DNA lab,
01:49:02so I work with a lot of people constantly,
01:49:05including the technicians
01:49:06who run the actual testing.
01:49:08The analysts who look over and
01:49:10then report out the genetic data.
01:49:12The director is here at the lab as
01:49:15well as the team who gets the insurance
01:49:19off and tries to get that testing approved.
01:49:23So we'll start with going
01:49:24over my first main thing,
01:49:26which is getting testing authorized.
01:49:27I think it's pretty safe for us
01:49:29all to agree that insurance can
01:49:31be difficult sometimes they they
01:49:33don't always want to pay for things,
01:49:35even if it's something that we
01:49:37feel like they should be paying.
01:49:39So as a response to that,
01:49:41my one of my main duties is to help
01:49:43in order to make sure that we can
01:49:45get that covered and the way that
01:49:48that works is that insurance covers
01:49:50things based on what are called.
01:49:52CPT code or current procedural
01:49:54terminology codes,
01:49:55and So what we do is we tailor our
01:49:57testing to use specific CPT codes
01:50:00that match both the insurances
01:50:02guidelines as well as what the
01:50:04provider is talking about in their
01:50:07notes in any documentation that we
01:50:09have as to why they think the testing
01:50:13is important and the reason we do
01:50:15this is that when we work in tandem
01:50:18like that with the clinical team,
01:50:20we found that we have.
01:50:22Better success at getting insurance
01:50:24to actually cover the testing.
01:50:26Sometimes it's not that straightforward
01:50:27though, and I'll still need to go out.
01:50:30Call the insurance.
01:50:31Say hey you guys are giving us a
01:50:33difficult time getting discovered
01:50:35what's going on?
01:50:36What can we do to work this out?
01:50:39And so that's another big part
01:50:41of what I do here.
01:50:43Lab and I also like.
01:50:44I mentioned earlier,
01:50:45talk with the providers about you
01:50:48know how to go about that CPT coding.
01:50:50What sort of genes were thinking of?
01:50:53Based on what their indication
01:50:54is and what they've said
01:50:55in the note.
01:50:58So specifically working with providers,
01:51:00one of my main functions is really
01:51:02just acting as a liaison between
01:51:04them in the lab in general.
01:51:06So a lot of what I do is just sort
01:51:08of communicating with them through
01:51:10any way that they need help in any
01:51:13questions that they can have answered.
01:51:15So a good example of this is that
01:51:18I get a lot of emails from you all
01:51:20as GCS as well as other providers.
01:51:23Just asking you know, hey,
01:51:25I work at this testing.
01:51:262 weeks ago, month ago, whenever it was.
01:51:29Can I get an update on what the product,
01:51:32the processes and still look into?
01:51:34OK, we got the sample.
01:51:35Have we gotten insurance coverage yet?
01:51:37If we've gotten insurance how we started
01:51:39the actual sequencing process yet,
01:51:41and if so,
01:51:42how long do I expect for that to be
01:51:45turned around and I'll try to give
01:51:47them an update on where that all is,
01:51:49as well as give them a timeline and when
01:51:53they can expect that result to come back.
01:51:56In addition,
01:51:57it's giving in addition to that,
01:51:58I go to the clinical case conference
01:52:01that the Department of Genetics
01:52:03has that Sam and Emily also go to,
01:52:05and that I'm sort of able to give the
01:52:07lab's perspective on any patients that
01:52:10they're talking about in that you know,
01:52:12what would we recommend is the
01:52:14procedure may be what we think would
01:52:17be the ideal way to go about that
01:52:19testing and just sort of give more of
01:52:22a comprehensive view and help them in
01:52:24deciding how to manage that placement.
01:52:27And again,
01:52:27like I mentioned earlier,
01:52:29a big part of this is trying
01:52:30to work with insurance.
01:52:32So there are times when I'll reach
01:52:34out before we do any sort of coding
01:52:37or testing to try and determine
01:52:38what the provider is looking for
01:52:40so we can make that all line up,
01:52:43but also do so afterwards.
01:52:45Sort of two work with them again,
01:52:47just to make sure that that insurance
01:52:49piece is covered as best as we can.
01:52:54And then the last thing that
01:52:55I want to touch on is more of
01:52:58my work internally in the lab,
01:53:00so this is really where there's
01:53:02a lot of different opportunities
01:53:03for lab GC that come from that
01:53:06list that I had in the poll.
01:53:08So one of the main things
01:53:09that I do is quality control,
01:53:12and there's a lot of different
01:53:13ways in which that I support that,
01:53:16but one of the ones that I think is
01:53:18best and sort of shows the utilization
01:53:20of a genetic counselor specifically
01:53:22is I've helped you develop phrases.
01:53:24For specific conditions that we see
01:53:27often come through the lab so you can
01:53:29see below my quality control on the slide.
01:53:31I have a little blurb talking about
01:53:34sickle cell disease and that was
01:53:36developed based on both my knowledge
01:53:38of sickle cell disease from my
01:53:40training as well as research.
01:53:42And this has helped the lab to
01:53:44standardize our reporting because a
01:53:46lot of the reporting the way that we do it.
01:53:49Is that we do the sequencing and then
01:53:52one of several analysts on our team
01:53:54will look at that to determine if
01:53:56there's any genetic changes and if there are,
01:53:59what is the cause of that?
01:54:01And so a lot of this writing can be
01:54:03different from analyst to analyst
01:54:05because we all think differently.
01:54:07We all act differently,
01:54:09so while it's similar,
01:54:10it's a little bit different from
01:54:12person to person,
01:54:13so our goal was to make it all
01:54:15standardized about our reports,
01:54:17come out saying the same thing every time.
01:54:20Another really cool aspect that
01:54:22I get to do here in the lab is
01:54:25what's called gene curation.
01:54:26So for those who don't know,
01:54:28Gene creation is the process of determining
01:54:30whether a gene causes a disease or not.
01:54:33An I have a little table here sort of
01:54:36demonstrating what part of that process is.
01:54:38So basically what you do is we want
01:54:40to develop a list of genes for each,
01:54:43either symptom or disease,
01:54:44so that when we get that from a provider,
01:54:47we know all the list of genes
01:54:49that we need to look at.
01:54:51In order to make sure that we're not
01:54:54missing any potential genetic cause.
01:54:56So what we do is we look through
01:54:59the literature.
01:55:00We looked through different
01:55:01websites and we tried to determine.
01:55:04What those genes for that condition would be?
01:55:08And this really helps us build
01:55:10that list so that every time that
01:55:12we get one of those orders,
01:55:14we make sure we're covering all
01:55:16the genes that could be causing it.
01:55:18And this sort of curation is really
01:55:21important, because as all of you know,
01:55:23and as I think someone even said
01:55:25in one of the questions,
01:55:27genetics is rapidly evolving and changing.
01:55:29So it's very important to constantly
01:55:31be updating these lists constantly,
01:55:32be checking for new jeans and making
01:55:35sure that we have a comprehensive
01:55:37list and we're not missing.
01:55:38Open.
01:55:39And the last thing that I really do day
01:55:42today is I support the very interpretation
01:55:44and the actual writing of these reports
01:55:47that we send out to the clinical staff.
01:55:50So very interpretation,
01:55:51similar to Gene creation is sort of
01:55:54determining whether that change that we're
01:55:56seeing in a gene actually causes the disease,
01:55:59or if we don't think it causes the disease.
01:56:03If it's what we call benign,
01:56:05so on the right bottom corner you can see
01:56:08sort of the table that a CMG the American
01:56:11College of Medical Genetics has created
01:56:14in order for you to determine whether
01:56:17or not a change in one of those jeans.
01:56:20Will cause disease and so we go through
01:56:23this and look at the criteria of the
01:56:26change and trying to decide whether
01:56:28or not that is causing the disease.
01:56:31And then we can write up a report
01:56:33based on what we find to say hey,
01:56:36this is what we found.
01:56:38We either think this particular
01:56:40change causes a disease.
01:56:41Here's the disease.
01:56:42Here's some information about it,
01:56:44or we can say, hey,
01:56:46we weren't able to find anything
01:56:48for this patient.
01:56:49Maybe in the future we can.
01:56:51But as of right now,
01:56:53we unfortunately don't have a genetic cause.
01:56:57The last thing I want it really quickly
01:57:00is just go over a case example.
01:57:02This is very insurance pacing and the
01:57:05reason I chose this specifically is I
01:57:07think it shows how important it is to
01:57:10have someone with clinical understanding
01:57:12involved in the insurance process because
01:57:15it can be very difficult sometimes,
01:57:17so the patient SF was seen for cardiac
01:57:20surgery for an ascending aortic aneurysm,
01:57:22and they ordered genetic testing,
01:57:24so her testing was initially decided.
01:57:27Denied by the insurance and the ordering
01:57:29provider called them and asked them,
01:57:31you know, what can we do about this?
01:57:34How can we get this approved and they
01:57:36recommended using different codes than
01:57:38what the labs originally coded for. So OK,
01:57:41that's straightforward and easy enough.
01:57:42We resubmit it for insurance.
01:57:44All we use the codes that they
01:57:46request and they come back saying
01:57:48that it needs additional information.
01:57:50So we're all sitting around like, OK.
01:57:52We did exactly what you asked.
01:57:54What's going on.
01:57:55So I hop in.
01:57:57I called the insurance company themselves.
01:57:59I discussed with them and they basically say,
01:58:02yeah, well,
01:58:02we actually told the provider is that
01:58:05we would maybe approve these codes,
01:58:07but what you originally submitted
01:58:09wasn't actually sufficient.
01:58:10So I go back to the order divider
01:58:12and I tell them OK.
01:58:14It sounds like they will approve these codes,
01:58:17we just need to give them more information
01:58:20proving why this is so important.
01:58:22And so I hope the provider write
01:58:24up a letter of medical necessity.
01:58:27To address all of their additional questions
01:58:29and we send that to the insurance company,
01:58:32which finally results in it getting approved.
01:58:36So without all of that communication
01:58:38and sort of understanding of both the
01:58:41processes and the clinical importance,
01:58:43I think getting that testing
01:58:46approved may have never happened.
01:58:49So I know that was kind of fast.
01:58:51I know we're also kind of behind on time,
01:58:54but I will be around to answer
01:58:56any questions as well,
01:58:57so please let me know if you have anything.
01:59:02Thanks Anthony, that was good.
01:59:04I think there was one question in the chat
01:59:08section about insurance and our various
01:59:10interactions with insurance companies.
01:59:13I'm not sure if that participant who
01:59:16asked was directly thinking about cancer
01:59:18or reproductive for laboratory GCS,
01:59:21but we're butting up right into our break
01:59:24time and there's a lot of information today,
01:59:28so I do want to give people
01:59:31some time to decompress.
01:59:33I think I'll make an executive
01:59:35decision to shorten the break
01:59:37from 15 minutes to 10 minutes,
01:59:40but feel free to grab a cup of coffee.
01:59:43Everyone. I'll start the timer.
01:59:45Let me share my screen.
01:59:53And we can. Return.
02:00:00You guys can see that right? Perfect.
02:09:56My gosh.
02:10:01And realize there would be
02:10:03noise coming from OK. Alright,
02:10:06and we're ready for Part 2.
02:10:19And I'm not sure who is gonna share
02:10:23their sides as Maria you first and then.
02:10:29Let me go ahead and. Share my screen.
02:10:33Perfect everybody see.
02:10:36Looks good. OK so hi everyone,
02:10:38my name is Maria Geyer.
02:10:40I am a genetic counselor.
02:10:42I work at the University of Connecticut.
02:10:44IAM what you call someone with a
02:10:46mixed position where I am mostly
02:10:48focused on academia and education,
02:10:50but I do have some clinical
02:10:52duties over on the medical campus.
02:10:54So because of my role in education
02:10:56and my involvement in helping,
02:10:58you can't start their own
02:11:00genetic counseling program.
02:11:01I'm going to talk to you a little bit
02:11:04today about applying to graduate programs
02:11:06for genetic counseling in general some.
02:11:08Some tips and tricks,
02:11:09some some do's and don'ts,
02:11:10maybe in order to maybe Taylor
02:11:12this a little bit better to who's
02:11:14in the audience today?
02:11:15I have a couple of questions from
02:11:17polls that I wanted to throw up
02:11:18here just so I can get a sense of
02:11:20who's listening today.
02:11:21So Alex,
02:11:22we want to throw that first one up.
02:11:27I want to know how many of you
02:11:29will be applying to genetic
02:11:30counseling programs this fall,
02:11:31or if this is something that
02:11:33you're considering doing for this
02:11:35upcoming year, not attending,
02:11:36but applying because we all know that
02:11:38the process for this can be quite long.
02:11:41So if you are let us know,
02:11:43or even if you're unsure, maybe a maybe.
02:11:55Alright, and a few more seconds.
02:12:04Great, so more than half of
02:12:06you are planning on attempting
02:12:07to apply this coming fall, so that's great.
02:12:10So you're in the right spot in terms
02:12:12of listening and for those who aren't
02:12:14planning on it might just be that
02:12:16you're planning on it for you know
02:12:17a couple of years down the line,
02:12:19or you're just really trying to.
02:12:22See if genetic counseling today's
02:12:24is kind of a good fit for where
02:12:26you want to go career wise.
02:12:28So I think you're also in a good spot
02:12:30and I think there's one more poll
02:12:32that I wanted to to throw up here,
02:12:34just that I could get some more information.
02:12:36I was interested to know how many of
02:12:38you had applied to a genetic counseling
02:12:40program previously and maybe not been
02:12:42successful in matching with the program,
02:12:44because sometimes I mean more often than not.
02:12:46That is what happens that people
02:12:47don't get in on their first round,
02:12:49so it can be helpful to me to
02:12:51know if if that really applies to.
02:12:53Most of you, or maybe not,
02:12:55many of you and I can maybe give
02:12:57you some more info on that.
02:13:06OK, alright so for a lot
02:13:07of you this is new turf,
02:13:09so that's cool and that that again
02:13:10helps me to kind of tailor things
02:13:12around what's happening here.
02:13:13So alright, so we're going to talk
02:13:15about the process of grad school.
02:13:17We have about 1/2 an hour
02:13:18between Colleen and myself.
02:13:19Will try to take the 1st 15
02:13:21minutes and there's a lot to say,
02:13:23so I'm going to go pretty fast,
02:13:25but hopefully if you do
02:13:26that survey at the end,
02:13:28you're going to get a recording
02:13:29and you can go back and listen.
02:13:31If you have some holes in what you've heard,
02:13:33so a few steps to talk about, you know.
02:13:36In terms of applying to program
02:13:37step one is know yourself right?
02:13:39So you kind of have to know that
02:13:41this is going to be a career that's
02:13:43right for you and there are different
02:13:45ways we're going to talk about in
02:13:47terms of how to figure that out.
02:13:48But you being here today is
02:13:50obviously a great first step.
02:13:51Let's learn about what life is like in
02:13:53different areas of genetic counseling.
02:13:55It's not all just direct patient
02:13:56care anymore. You can.
02:13:57You can have a vast array of different
02:13:59experiences as a genetic counselor so
02:14:01you know there are different ways to do this.
02:14:03You can reflect on your needs and your
02:14:05goals like where you want to be in life.
02:14:07Talk to people.
02:14:08Listen to folks like us.
02:14:10Seek out some other people who who
02:14:12might have some expertise in this area.
02:14:14So really, you know the first step
02:14:16is to kind of sit with yourself.
02:14:18In the second step,
02:14:20you know once you get past that
02:14:21and you're like, hey,
02:14:23genetic counseling is something
02:14:24I really want to do.
02:14:25You want to know the programs right?
02:14:27So who's out there?
02:14:28How are they different?
02:14:29How are they similar?
02:14:30So although many of them are similar,
02:14:32you know each program is going to
02:14:34have kind of its unique spin or niche.
02:14:36There are some programs that focus much
02:14:38more heavily on psychosocial skills and
02:14:40that that whole counseling aspect of it.
02:14:42There are some that focus
02:14:43much more on research,
02:14:44so maybe you have a desire to do research,
02:14:47but you really like genetic counseling like
02:14:48there are ways to intermingle those of you.
02:14:51As you've heard from Arcata.
02:14:53Technology,
02:14:53so maybe you want to learn more
02:14:55about next Gen sequencing.
02:14:57Maybe you know industry type
02:14:59career with genetic counseling is
02:15:00is your thing and and there are
02:15:02programs that are just a little bit
02:15:04more in tune to things like that.
02:15:07You know,
02:15:08programs can different types of
02:15:09the in terms of the type and amount
02:15:12of clinical exposure you have.
02:15:13When you start your clinical rotations,
02:15:15how long you're there and patient
02:15:17populations based on location.
02:15:18So there you know depending on where
02:15:20your program is geographically located,
02:15:22they might serve different populations
02:15:24and some might interest you more.
02:15:25Or you may have a passion for
02:15:28a particular population.
02:15:28So I encourage you to do your
02:15:31homework about programs right?
02:15:32So no other programs.
02:15:34When you're trying to select a program so
02:15:36you know the programs that are out there
02:15:38now and I gotta make your small list about,
02:15:41you know which ones interest you,
02:15:42there's a lot of different factors.
02:15:44And aside from what I just said,
02:15:46where they can have kind of their
02:15:48own niche and specialty areas,
02:15:49they're going to differ in
02:15:51some other ways too.
02:15:52So educational delivery.
02:15:53So how are you going to
02:15:54learn that these programs?
02:15:55Most programs are face to face?
02:15:57You gotta be on campus and beyond sight,
02:15:59but some are online,
02:16:00some are hybrid and you'll hear from some
02:16:03students who attend programs like those.
02:16:05How big is a class size?
02:16:06Is that important to you?
02:16:07Do you want to have 20 classmates
02:16:09or do you want to have three?
02:16:10Can be a very different experience
02:16:12depending on what you're comfortable with.
02:16:14Cost is obviously something that can
02:16:15be prohibitive to a lot of people that
02:16:17has to be considered into the equation,
02:16:19so you're going to want to know tuition fees.
02:16:21You're going to want to know,
02:16:23do they have scholarships available?
02:16:24What type of financial aid can they offer?
02:16:26What's the cost of living?
02:16:27You know you may have always pictured
02:16:29yourself in a program in Boston,
02:16:31but can you afford to live in
02:16:33Boston but go to school full time?
02:16:35Is your program a program that allows
02:16:37you to work while you're there?
02:16:39So all these things have to
02:16:40be considered location?
02:16:41We kind of touched on.
02:16:43Yes,
02:16:43some can be in cities,
02:16:44some can be in rural areas,
02:16:46is a program close to where your family is,
02:16:48and maybe that's going to be
02:16:50your housing while you're there.
02:16:52Do they have public transportation or are you
02:16:54going to have to go to school with the car?
02:16:57Do you not have a car?
02:16:58So there's a lot that can
02:17:00that can go into this.
02:17:02We talk about faculty,
02:17:03the faculty experience.
02:17:04How many faculty member to student ratio?
02:17:06What what?
02:17:07That looks like,
02:17:07you know,
02:17:08do you prefer a smaller learning
02:17:10environment or a larger one?
02:17:11What affiliations do they have?
02:17:13So are they connected with a university
02:17:15based hospital or do they have their own?
02:17:17Are there other international
02:17:18partnerships that are important to
02:17:20you that they may have and what
02:17:22kind of training opportunities do
02:17:24they provide so you know what will
02:17:25your clinical rotation look like?
02:17:27Are you going to get the standard
02:17:29like pediatric, prenatal and cancer?
02:17:30Do you get a wider variety?
02:17:32You know, do you get to pick a rotation?
02:17:35That's a specialty?
02:17:36You know where you're going to
02:17:38have as much lab experience.
02:17:39Working with lab GC's that you want.
02:17:42So these are going to be always
02:17:44that that programs differ and
02:17:46these are obviously important
02:17:48questions for you to ask yourself
02:17:50when considering a program.
02:17:52And I am going to just move this.
02:17:55OK, OK? So when you're exploring programs
02:17:59like, how do you start ready start?
02:18:01I say go to this one particular website
02:18:03and as I listed here GC education.org and
02:18:05they're going to list all of the currently
02:18:08accredited programs in the US and Canada.
02:18:10That's going to be where you get
02:18:12your pool from and then you know,
02:18:14just like we said, you make your smaller
02:18:16list and then you start asking questions.
02:18:18So visit the campus. Now.
02:18:20I know in terms of COVID that's
02:18:21been kind of difficult,
02:18:23or that can be difficult.
02:18:24So zoom calls are appropriate phone calls
02:18:26to program directors or appropriate.
02:18:28Asking questions,
02:18:29I'm just maybe a drive by see if the
02:18:31town is like something like that.
02:18:33Try to get ahold of some students or
02:18:35alumni. And this is going to
02:18:37be very valuable to you as a prospective
02:18:39student, because it's going to allow you to
02:18:41ask questions of things like you know what
02:18:43did you wish you knew before you came here,
02:18:45or what was your favorite part
02:18:46of attending this program?
02:18:47Or if you could change something,
02:18:49what would you change?
02:18:49And you'll start to get an overall
02:18:51feel of the student experience,
02:18:52and that, I think,
02:18:54is important in making your decision.
02:18:55We want you to ask lots of questions
02:18:57to the program Director's.
02:18:58The ones I've listed kind of at the bottom.
02:19:01Here are things that are good interview
02:19:02questions, so take a peek at those.
02:19:05Step three, you want to know the process.
02:19:07OK, So what is applying to grad
02:19:09school is a process you have to
02:19:11know the timing for applications.
02:19:13Most of them are going to be in late fall,
02:19:15early winter. You know.
02:19:16How soon do you have to take
02:19:18your your GR ES before that?
02:19:20Or do you have all the prereqs
02:19:22done before that?
02:19:23Many of the programs had very similar
02:19:24requirements, but they are different.
02:19:26So once you make your small list you have to
02:19:28go according to what each program requires.
02:19:30You know some required two semesters
02:19:32of organic chemistry and some don't.
02:19:34So it's very important to know those nuances.
02:19:36Well before you apply so that you have
02:19:39time to take them if you need them.
02:19:41Applying to more than one program.
02:19:43So what I usually tell students is you know.
02:19:45So data showed that if you
02:19:47apply to four or more programs,
02:19:48you have a much higher chance of getting into
02:19:51a program that if you apply to one or two.
02:19:53So that kind of makes sense.
02:19:55But you have to consider the cost of applying
02:19:57each program may have an application fee.
02:19:59You know if you have to do
02:20:01onsite interviews and you get
02:20:02interviews at four or five schools,
02:20:04you're going to have to.
02:20:05I don't know.
02:20:06Potentially fly there yourself
02:20:06or drive there yourself.
02:20:08You're going to stay in a hotel,
02:20:09you know there there can be waivers.
02:20:11For things like application fees,
02:20:13but there's generally not a whole lot of
02:20:15support sometimes for the interview process,
02:20:17so so be sure to factor that in when you're
02:20:20thinking about how many schools to apply to.
02:20:23So what are the requirements
02:20:25for applications?
02:20:25Like I said,
02:20:26they're going to be very similar,
02:20:28but you know slightly different
02:20:30between between programs.
02:20:31You're generally going to have to
02:20:33have some coursework in biology,
02:20:35chemistry, genetics, statistics,
02:20:36psych,
02:20:36something.
02:20:36I generally tell potential
02:20:38applicants is at AP courses will
02:20:40typically not fulfill these credits,
02:20:41so if you took like AP,
02:20:43Psych in college,
02:20:44I mean in high school and you got to
02:20:47get out of basic sight classes in college,
02:20:50and you have not taken an upper level
02:20:53site class in college beyond that.
02:20:55Then you might not meet the requirement
02:20:57for a graduate program that requires
02:20:59college level psychology.
02:21:00So just a word wise, you know,
02:21:02just think about the
02:21:03courses you may have taken.
02:21:05That or AP, and have you taken any
02:21:07additional courses within that
02:21:09topic while at while in college.
02:21:11The Jerry's or something that is starting to
02:21:13become less of
02:21:14a requirement for many programs, but some
02:21:16still do, so I put it on here
02:21:19because you know, if you're going
02:21:21to be applying to 678 programs,
02:21:23you were likely going to encounter a
02:21:25program that's going to require the Jerry.
02:21:27So to start thinking about
02:21:28that language requirements.
02:21:29This could vary widely between universities,
02:21:31but generally you're going to have to have
02:21:33some type of evidence of proficiency in
02:21:36the English language transcripts and GPA,
02:21:38so a lot of people tend to ask me
02:21:41about GPA and how important it is.
02:21:43There are some programs that
02:21:45have GPA minimums or ranges that
02:21:46they typically accept students,
02:21:48and you know a lot can happen in college
02:21:50and a lot of people are usually kind
02:21:52of finding their own legs in college,
02:21:54and so sometimes their GPA is
02:21:56not always reflective of their
02:21:57motivation for Graduate School.
02:21:59Or maybe you've taken a lot of classes
02:22:01and things that really didn't interest
02:22:03you as much so you didn't do as well.
02:22:06There are ways to help realign your GPA.
02:22:09There are ways to kind of spend
02:22:11this a little bit I put in here.
02:22:14This is my shameless plug of the
02:22:16clinical genetics on line grad
02:22:18certificate that you come.
02:22:19So I started grad certificate.
02:22:21Kind of for folks that
02:22:22fit into this category.
02:22:24Maybe they have a decent GPA,
02:22:26but it's nothing spectacular.
02:22:27You know? Ioffer a four course.
02:22:29It's done in two semesters.
02:22:31It's all online,
02:22:32asynchronous in clinical
02:22:33genetics and genomics,
02:22:34So what better way to show
02:22:36a potential graduate?
02:22:37Program and genetic counseling that you
02:22:39could handle graduate level coursework
02:22:41and clinical genetics and genomics.
02:22:42Then taking some classes in same here.
02:22:44I did really well in these or this
02:22:46is when this is in my wheelhouse.
02:22:47This is how I do this is a
02:22:49reflection of how I learn.
02:22:50So you go to the website if
02:22:52you want to take a peek.
02:22:53You're gonna need letters of recommendation,
02:22:56at least, probably about 3.
02:22:59They should be pretty well rounded.
02:23:01They should be from people who can
02:23:02speak to your academic problems.
02:23:04They can speak to your ability
02:23:06to wear your counseling hat.
02:23:08They should speak to your character.
02:23:09Try to refrain from you.
02:23:11Know family, friends, things like that.
02:23:13It should be much more professional,
02:23:15but it's better to have more than less.
02:23:17So personal statement is something
02:23:19that usually is something I get
02:23:21a lot of questions about.
02:23:23And I will say that it's not always
02:23:25the funnest part of the application.
02:23:26Process.
02:23:27Is writing a personal statement like
02:23:28why I want to be a genetic counselor
02:23:30101 but it is critical this is your
02:23:32time to be different from other applicants.
02:23:35This is the time to tell them how you
02:23:37are unique and how amazing you are.
02:23:39I personally have never been very
02:23:41good at writing essays like that,
02:23:42so I enlisted the help of some
02:23:44editors you know. So I wrote my Nan.
02:23:46I sent it off to have someone
02:23:48edit it and
02:23:49look at it and be like,
02:23:51oh I don't understand what
02:23:52you're talking about here.
02:23:54And then they gave me feedback.
02:23:56Most of you probably belong to
02:23:57universities or institutions or
02:23:59organizations that have some type
02:24:00of writing center or writing lab.
02:24:02So I encourage you to get this
02:24:04looked at by someone other than.
02:24:07Family members and friends.
02:24:08This should be someone who writing
02:24:10is what they do and they can read
02:24:11it for clarity and ensure that
02:24:13you're getting the right message
02:24:15across personal statements matter.
02:24:17Application requirements also
02:24:18include volunteer experience,
02:24:19so it's genetic counseling.
02:24:20So what type of organization or group
02:24:23have you been part of where you
02:24:25could put that counseling hat on?
02:24:27We talk a lot about crisis counseling,
02:24:30there's bereavement counseling,
02:24:31support groups,
02:24:31working with the disability community.
02:24:33There's lots of different
02:24:34opportunities to volunteer,
02:24:35even in times of coping,
02:24:37so I'm always available to help
02:24:39people brainstorm about what would
02:24:41opportunities are out there.
02:24:43And then showing that you've
02:24:44done your due diligence so a lot
02:24:46of people talk about shadowing.
02:24:47I've seen a couple questions
02:24:48come to chat about shadowing.
02:24:50Shadowing is typically not
02:24:51a requirement for programs.
02:24:52It's something that's kind of
02:24:53like icing on top of the cake.
02:24:55You know,
02:24:56it shows that you've done your homework.
02:24:58You know what's involved in a day
02:24:59in the life of a genetic counselor.
02:25:01You know that this is what you understand.
02:25:03A counseling session to be.
02:25:05So if you're not able to shadow a counselor,
02:25:07can you interview one over the phone?
02:25:09Can you talk to one?
02:25:10Can you attend a session like this and SGC?
02:25:13Board and national side genetic
02:25:15counselors has a link that's open
02:25:17to the public for the master Genetic
02:25:19counseling series and basically
02:25:20this shows three simulated genetic
02:25:22counseling sessions in different disciplines.
02:25:24There about 30 minutes apiece and
02:25:26you get to watch them from start to
02:25:29finish and really get a feel for
02:25:31for what happens in in sessions.
02:25:33Trying to keep this moving along.
02:25:35OK, so Step 4 you need to listen to my dad.
02:25:39That's my dad and my son Nicholas.
02:25:42My dad always gave great great advice.
02:25:44And he always said to me,
02:25:46a good job is worth doing.
02:25:47It's worth doing right?
02:25:48So don't halfass anything when it
02:25:50comes to this application at all.
02:25:51Really,
02:25:51what you need to do is have everything
02:25:53be very, very, very purposeful,
02:25:54and if right now is the time at
02:25:56which you're saying, hey,
02:25:57I want to be a genetic counselor,
02:25:59I want to go to grad school.
02:26:00I want to be on track for this
02:26:02and everything you have to do has
02:26:04to kind of roll into that goal.
02:26:06So if you're going to look for
02:26:07a volunteer opportunity,
02:26:08make it related to genetic counseling.
02:26:09If you're going to get a summer job,
02:26:11make it something that's useful
02:26:13or helpful to meeting that goal
02:26:14of becoming a genetic counselor.
02:26:17So a little bit of
02:26:18kind of random information,
02:26:19and I did see something in the
02:26:20chat come through about this.
02:26:22Taking a year off or two.
02:26:23Like, what do you think about gap year?
02:26:25So I think students have a lot of fears
02:26:27about a gap year in terms of like,
02:26:29oh, how's it going to be viewed
02:26:31if I take a year off? No?
02:26:32I mean applicants who take gap years
02:26:34actually being pretty favorably,
02:26:35you know, depending on what
02:26:36you do with that gap year,
02:26:37maybe you work,
02:26:38so you're going to become a
02:26:39little bit more professional.
02:26:40You're going to have a little bit
02:26:42more of a professional work ethic,
02:26:43and it all depends on how you.
02:26:45What you're doing in that gap year,
02:26:47but I think if your purpose is to
02:26:49prepare yourself for grad school,
02:26:51this is not a negative on
02:26:52a resume whatsoever.
02:26:54If you didn't get accepted to a program,
02:26:56seek feedback.
02:26:56So if you went through this application
02:26:58process and you don't match where you
02:27:00don't get an interview or you do get
02:27:02an interview but don't get matched,
02:27:03you know either way you should be
02:27:05calling the program Director after
02:27:06Match Time is over to say hey,
02:27:08what can I do is as an applicant
02:27:09you saw my application,
02:27:11where were the gaps where the holes?
02:27:12It could be something that you
02:27:14have no idea about your personal
02:27:15statement you may think is garbage,
02:27:17but they may think is amazing,
02:27:18but you had a 3.1 GPA instead of,
02:27:20you know something that they
02:27:21were more looking for,
02:27:22so it might not be something
02:27:24that's on your radar.
02:27:25So definitely get back.
02:27:28Familiarize yourself with the
02:27:29profession we talked about that we
02:27:30talked about going to nscc.org read
02:27:32some genetic counseling literature,
02:27:33watch the master Genetic counseling series.
02:27:34All of these show programs that
02:27:36you're invested and that this is
02:27:37the career that you want to do and
02:27:39try and visit programs you know.
02:27:40COVID aside, if you could,
02:27:42I think things are starting
02:27:43to open up a little bit more.
02:27:45You may be able to do some things in person,
02:27:47but if not,
02:27:48make a phone call and make a zoom
02:27:50appointment. And you can do this.
02:27:52It's not impossible.
02:27:53I know we talk about it.
02:27:55It's a huge process and a big endeavor.
02:27:57But it's possible.
02:27:58Awesome speakers have gone through this.
02:28:00We understand and empathize
02:28:01completely with this process.
02:28:02So please try to stay positive.
02:28:04Connect with us if you need any assistance.
02:28:06Work hard and you'll make it happen.
02:28:09If you have questions, here's my email.
02:28:11I'm also available during
02:28:12the Q&A session at the end.
02:28:14If you have time for that,
02:28:16alright?
02:28:16Hopefully it'll take up too much time.
02:28:19I'm gonna stop sharing now.
02:28:25That that was great, Maria.
02:28:26I think you've got a lot of
02:28:28questions coming in.
02:28:29I'm afraid I won't be able to pose
02:28:32them all to you live, but if you
02:28:34want to ruminate on those coloring,
02:28:36I'll let you take it from here.
02:28:41OK, can you hear me?
02:28:42Can you see? Yeah, OK great.
02:28:46So my name is Colleen Doherty.
02:28:48I am the assistant program director
02:28:50and the clinical coordinator for the
02:28:52Bay Path University Master of Science
02:28:54in Genetic Counseling Program and
02:28:56I'm here today to talk to you about
02:28:59is Maria just went through like
02:29:01how to pick a program and you go
02:29:04through that match process and you
02:29:06know congratulations now you match.
02:29:08Now, what like what are you going to
02:29:10expect once you get into Graduate School?
02:29:13And while I am representative of Bay Path?
02:29:16And we are one of those online
02:29:18programs which I think was a question
02:29:21that was asked along the side of
02:29:23a path in Boise State.
02:29:25Most of the other programs are on ground.
02:29:28I am going to try and represent
02:29:30all programs as best I can.
02:29:35So the first part about when
02:29:37you get into grad school,
02:29:39you know when you have applied,
02:29:41you get in some of you have
02:29:44asked about that summer before.
02:29:46There are some prerequisites that
02:29:48programs will allow you to take in
02:29:51the summer prior to matriculate ING.
02:29:53I know that we accept students without
02:29:56having the Embryology prerequisite done,
02:29:58and we allow them to take it over the summer,
02:30:02knowing that it must be
02:30:04completed prior to matriculation.
02:30:05Every program is going to
02:30:07be different in that regard,
02:30:09so I don't think we can answer that
02:30:11question for everyone and you just have
02:30:13to reach out to each individual program.
02:30:15But once you start in a program,
02:30:18there's the one aspect of the program
02:30:20will be the didactic education.
02:30:21And So what I mean by this are the actual
02:30:24courses that you're going to take.
02:30:26So what kind of curriculum can you
02:30:28expect when you get to a program face
02:30:31to face or on line whichever way it is,
02:30:34whatever modality is used,
02:30:35you should be getting.
02:30:36Courses in Human Genetics
02:30:38and genetic counseling.
02:30:39Biochemical metabolic genetics,
02:30:40cytogenetics, and molecular.
02:30:42There's been a lot of questions
02:30:44about statistics and risk assessment
02:30:46and that that should all be
02:30:49included in these courses as well.
02:30:53Most programs, even if you
02:30:54have to have an Embryology as a prerequisite,
02:30:57will do some more Embryology and teratology.
02:30:59Gee, they'll be research methods courses.
02:31:01These also can include the statistics,
02:31:03and I'm only bringing that up because
02:31:05I did see that come through quite
02:31:08a few times in the question and
02:31:11answer about the the math portion.
02:31:13You might have an evidence based
02:31:16medicine course, so this will be to
02:31:18help instruct you into your capstone.
02:31:21Will get to that as well,
02:31:23but many programs,
02:31:25most programs require some kind of
02:31:28research product or Capstone product.
02:31:31And then there are usually some
02:31:33very specific courses on kind
02:31:35of the more the larger scope.
02:31:38Genetic counseling specialties such
02:31:39as reproductive genetics, cancer,
02:31:41genetics and then medical genetics,
02:31:43which encompases oftentimes the metabolic
02:31:45and biochemical genetics as well.
02:31:49Some of the other courses that you can
02:31:52expect to have in a didactic manner
02:31:55will be your psychosocial courses,
02:31:57so you'll get like ethical legal
02:31:59and social issues in genetic
02:32:02counseling there should be.
02:32:04Several psychology courses,
02:32:05many that deal with the psychology
02:32:08of grief and loss and bereavement.
02:32:11Family dynamics across the
02:32:13lifespan and more importantly,
02:32:15social and cultural awareness courses.
02:32:17A lot of programs will try to
02:32:20thread that kind of conversation
02:32:22throughout your education,
02:32:24but some programs also have a
02:32:27specific course on this as well.
02:32:31Some of the other.
02:32:33Didactic or curriculum areas that
02:32:35you might come across are some
02:32:38programs might have you do some
02:32:40business or management skills,
02:32:42some discussion on professional issues.
02:32:44How to when I say education and advocacy
02:32:48and public health like how can you
02:32:51participate in the broader spectrum of.
02:32:54Medical training and in
02:32:56in the community as well.
02:33:00Next, after your didactic education,
02:33:02that's how most programs start,
02:33:04and then you kind of move on into while
02:33:07you're doing some of this didactic work,
02:33:09you start doing what we call your
02:33:11clinical field work, rotations,
02:33:13or like which are either patient
02:33:14facing or non patient facing,
02:33:16and you've heard some great
02:33:18discussions on what that encompass is,
02:33:20but I will just quickly do an overview
02:33:22because I do believe some people
02:33:24were wondering like what kind of
02:33:26exposures do you get as a student?
02:33:29And so in clinical.
02:33:31In order to become the just to back up
02:33:34a second in order, the goal
02:33:36is for everybody to be board eligible
02:33:39when they graduate and there are
02:33:41specific standards that must be met
02:33:43in order for a student to graduate to
02:33:46be board eligible and a lot of that
02:33:48involves your clinical patient facing
02:33:50field work and every student has
02:33:52to have 50 participatory encounters
02:33:54that document that they are trying to
02:33:56advance through a very specific set of
02:33:59practice based competency's I know that.
02:34:01Maria and I think in the Q&A
02:34:03I also put the GC education.
02:34:05That's the Accreditation Council of
02:34:07Genetic Counselors website and they list
02:34:09what these practice based competencies are.
02:34:12But students are expected to
02:34:13become proficient in each areas of
02:34:16these practice based competencies,
02:34:17and you do that through a combination
02:34:20of all these things,
02:34:21not the least of which is the
02:34:24clinical field work experiences.
02:34:26So to do that,
02:34:27you have to have these 50 cases
02:34:30and they have to be across all
02:34:32a wide range of specialties.
02:34:34So in most programs will offer three
02:34:37kind of basic rotations clinically.
02:34:39One would be general or pediatric,
02:34:41another would be prenatal
02:34:42reproductive genetics.
02:34:43In a third would be cancer,
02:34:45and you've heard speakers
02:34:47speak on all of those.
02:34:49There's also usually time worked
02:34:51in to carve out some space.
02:34:53If somebody has a specific specialty
02:34:55that they're interested in.
02:34:57And I've listed a few here.
02:34:59You heard Arpita talk about cardiovascular.
02:35:01Many of our students have done
02:35:04rotations with Arpita and have found it
02:35:06extremely helpful in understanding how
02:35:08cardiovascular genetic program works.
02:35:10There could be neurogenetic,
02:35:11ophthamology, psychiatric.
02:35:12Some of those are hard to find an an
02:35:15you know each program is a different
02:35:18exposure and ability to find these for you.
02:35:21So that's something to look at when
02:35:24you're trying to choose a program.
02:35:27You also want to again kind of
02:35:30to combine Maria stock in mind
02:35:32when you're considering this.
02:35:33You wonder how many will be onsite rotations?
02:35:36How many ortelle genetics?
02:35:37How many you simulated patients?
02:35:39And again,
02:35:39we all were Tele Genetics and
02:35:42simulated patients all last year.
02:35:43But that's you know,
02:35:45taking COVID out of it there.
02:35:47There are programs that do a little
02:35:49bit more Tele health than others,
02:35:51and more have on site.
02:35:53And what is going to be work best for you?
02:35:58For non patient facing field work I
02:36:00think that Anthony spoke really well
02:36:02about what it's like to be in a lab setting.
02:36:05We also have students who do
02:36:07lab settings where they're just
02:36:08specifically doing very interpretation.
02:36:11We have some students who can do
02:36:14industry settings such as shadow
02:36:16and Myriad counselor.
02:36:18You know,
02:36:18in a Regional Medical specialist
02:36:20or something like emerging careers
02:36:22where you work with a group at
02:36:25Quest Diagnostics where you
02:36:27can understand where the future
02:36:29might be for an interview. Genetic
02:36:31counselors aware some future ideas
02:36:33might be and and more of a business
02:36:37aspect of genetic counseling and
02:36:39what your career could look like.
02:36:44So third part of a program
02:36:46will be what you know.
02:36:48We have referred to as either a
02:36:50research project or Capstone project.
02:36:52And again I heard somebody.
02:36:54Sorry I read somebody was asking about
02:36:56like how much research is done and
02:36:58and what you do once you graduate.
02:37:01Sometimes is shaped based on what
02:37:03you get interested in in your
02:37:05graduate program but but not always.
02:37:07But every graduate student is going
02:37:09to be required to do some sort
02:37:11of project I have indicated here.
02:37:13A a list of some examples of needs for
02:37:16projects that came out of Bay Path,
02:37:18'cause that's what I have access to.
02:37:21But you know,
02:37:22you can ask whatever program you're
02:37:24interested in on what are their
02:37:26projects of projects, but you know,
02:37:28we've had students investigate
02:37:29some direct to consumer testing,
02:37:31which is a really hot topic.
02:37:33Just some that focus just on
02:37:35the genetic counseling process.
02:37:37As you can see.
02:37:39Perspectives on evolving technologies.
02:37:41We had a student look into genetic
02:37:44counselors views on CRISPR.
02:37:46We had one of our graduates who
02:37:49worked with the Yale Group on.
02:37:52You know on going to gainan tumor
02:37:55boards an what the follow up was
02:37:58and how how were those patients
02:38:01where they appropriately re Ferd?
02:38:04And and you know most then most of
02:38:07these students are then encouraged to
02:38:09submit their work product to NSCC to
02:38:11see if they can get paper out of it
02:38:14or presentation at the national meeting.
02:38:17But this is just an example
02:38:19of what students are doing.
02:38:20There's a wide variety and many
02:38:22are coming out this year about,
02:38:25you know, COVID and Tele health,
02:38:27and so it'll be a lot of more
02:38:29interesting things that are
02:38:31coming out of all the programs.
02:38:35And the the last section that you
02:38:38know you could expect in a program.
02:38:41Some programs require some kind
02:38:42of volunteering or professional
02:38:44development and activities.
02:38:45What we do specifically,
02:38:47we have two onsite weekends a year.
02:38:49Again, you know,
02:38:51in the before times and pre COVID now
02:38:54are on sites are they've been remote.
02:38:57But where we have a weekend where everybody
02:39:01comes together and we talk about.
02:39:04You know self care professional development.
02:39:06We do activities we you know if there's
02:39:08anything that new that's happened again.
02:39:10Another question was how do you keep
02:39:12on top of this in the education system?
02:39:15Will then we try to institute that then?
02:39:17If it's something that's very new,
02:39:19like recently the AC MG changed
02:39:21the 59 to 74 just the other day.
02:39:23So you know we've got to work better and
02:39:26somehow and that's you know until you
02:39:28can work it into your curriculum, you
02:39:31have to have spots where you can discuss it.
02:39:34We there's journal clubs.
02:39:35That's often a way that these kind.
02:39:38This kind of information is shared as well,
02:39:40and you'll soon see two of our rising
02:39:43second year students who are doing
02:39:45some volunteering right after me.
02:39:48But the goal of
02:39:50all of this is to graduate
02:39:53genetic counselors, who are what
02:39:55we considered board eligible.
02:39:56And again there were a couple
02:39:59of questions about how to
02:40:01be able to take the boards,
02:40:03but you have to come through
02:40:06a board or I'm sorry,
02:40:08an accreditated AC GC accredited
02:40:10program in order to be considered
02:40:12board eligible and to sit
02:40:14for the board exam.
02:40:16The board
02:40:17exam is offered post graduation.
02:40:19It's offered in August and in February,
02:40:22so twice a year and you must
02:40:25pass that to be board certified.
02:40:28There are some states in which you
02:40:30most states you can work if you
02:40:33are considered board eligible,
02:40:34but there are in order to get licensure,
02:40:37there's typically a certain amount
02:40:39of time that you have in order
02:40:41to pass that board exam and and
02:40:43to be able to be employable.
02:40:45That's going to vary from state to state.
02:40:50And again I just put in
02:40:52some resources as well.
02:40:54I guess what I also wanted
02:40:56to say here is that you know.
02:40:59So once you graduate,
02:41:00there's still one more step to
02:41:02becoming a board certified,
02:41:04like like many other,
02:41:05like PT or many other
02:41:06health care disciplines,
02:41:08you have to take a board exam
02:41:10in order to be fully certified.
02:41:13But Maria also discussed this.
02:41:14There's some great resources on SGC page.
02:41:17This is just a picture of what that
02:41:20master genetic counseling series looks like.
02:41:22There's also web and R of a day
02:41:25in the life of genetic counselors,
02:41:27and I also would direct you.
02:41:29You know there's a lot of great
02:41:31social media out there where
02:41:33genetic counselors play a big role.
02:41:36Like on Twitter, there's hashtag,
02:41:37hashtag, GC chat.
02:41:40There is a discord channel that actually
02:41:43is moderated by a recent grad and
02:41:45Baker Baker program, and they are.
02:41:47That's really great.
02:41:48Like I am not on that.
02:41:49None of the programs are on that
02:41:51because it's a really great private
02:41:53way to ask some good questions
02:41:55and you can get some really good
02:41:57student feedback on there as well.
02:42:01So I'm offering up my email.
02:42:03Please email me if you have
02:42:05any questions on what to expect in
02:42:07Graduate School between Maria myself.
02:42:09We can answer some questions
02:42:10about different programs,
02:42:11but the best way if you have a
02:42:14specific question about a specific
02:42:15program is to look up their
02:42:17website and go directly to them.
02:42:22Thanks Colleen Ann. I do want
02:42:24to clarify for everyone that
02:42:25I will be sharing our
02:42:27speakers email addresses.
02:42:28They've all kindly volunteered to
02:42:30share that information with you all,
02:42:32so I'll have that up kind of in
02:42:34the background as we do the Q&A,
02:42:37but I'll let Paige and Mike
02:42:38take over for the next section.
02:42:42Makes you wanna go first.
02:42:47Doesn't matter to me.
02:42:49Alright, you go ahead OK?
02:43:04Sharing OK.
02:43:07Yep, OK, my name is Mike Peracchio.
02:43:10I am a now second year student and the
02:43:13Master of Science in General Accounting
02:43:16Program at Bay Path University.
02:43:18So I just wanted to talk a little
02:43:21bit about my path to Bay Path.
02:43:24I'm more of a non traditional student and
02:43:27so I've had kind of a bunch of different
02:43:31shifts in my career along the way,
02:43:34so I thought I'd just tell you
02:43:37a little about that and then.
02:43:39Talk to you about a little bit about my
02:43:42experience in the Bay Path program so far,
02:43:45and kind of how I've been, you know,
02:43:48balancing all the different aspects
02:43:50of my life while also then.
02:43:52Grad school for genetic counseling.
02:43:57So education I got my
02:43:59bachelors degree in ecology and
02:44:02evolutionary biology back in 2003.
02:44:05I said it's it's been a long Rd.
02:44:09And I ended up going after school.
02:44:13I did some traveling and ended
02:44:16up going into teaching, so I.
02:44:18Went back to school and got certified
02:44:21to teach high school biology.
02:44:24So that was my degree here and then I
02:44:27went back to grad school again at UConn.
02:44:30And now on that day, pass.
02:44:33I do want to be clear and in no
02:44:36way do you need to have multiple
02:44:38masters degrees in order to apply
02:44:40for an account link program.
02:44:42This is more just a product of my
02:44:45searching to find the career that was
02:44:47really going to be the best for me,
02:44:50which has taken me a little while,
02:44:52but I'm pretty sure I'm there now so.
02:44:56Yeah, professionally, my background.
02:44:57As I said,
02:44:59I ended up becoming a high
02:45:01school biology teacher and I.
02:45:03I taught all levels of high school
02:45:06biology from freshmen and sophomores,
02:45:09kind of general to AP biology
02:45:12so many different levels,
02:45:13which is something that I think is.
02:45:18I have found to be, you know,
02:45:21a useful skill for genetic counseling
02:45:23because I had to, you know,
02:45:26learn how to teach genetics concepts
02:45:29and other complex science concepts too.
02:45:32To all levels of students and people
02:45:34without much background in those topics.
02:45:36And so that's something that
02:45:38I think we do everyday,
02:45:39is down to counselors as well.
02:45:41Is trying to explain some of these concepts
02:45:43to people who don't have a background in.
02:45:46In in science or genetics?
02:45:50So I end up leaving.
02:45:53My high school teaching when
02:45:55I started teaching AP Bio,
02:45:56I kind of got interested.
02:45:58It kind of made me want to get
02:46:00back into going a little deeper in
02:46:02the science and I actually kind of
02:46:04want to teach at the college level.
02:46:07So I went back to UConn in a pro at
02:46:09this originally in PhD program and genetics,
02:46:12and so I was doing genetics research
02:46:14as part of my grad school on small
02:46:17RNAs in a basic research lab at
02:46:20the University of Connecticut.
02:46:21And I, you know, found out that that wasn't.
02:46:26Quite where I wanted to be either,
02:46:29so I so I graduated with a masters
02:46:32degree and got a job in a clinical lab
02:46:36and I've found my interests were more.
02:46:39In the clinical side of things,
02:46:41then kind of the basic research
02:46:43side of things and so.
02:46:45I started working at the Mount Sinai
02:46:47genetic testing labs in Connecticut
02:46:49and that was part of the Mount Sinai
02:46:52Hospital system in New York City,
02:46:54and so I was working in the
02:46:57laboratory technologist there,
02:46:58and so I've kind of been in three
02:47:00different labs and devolved in
02:47:02slightly different types of labs.
02:47:04So Mount Sinai that was a non
02:47:07profit hospital based lab.
02:47:09I then was at the Jackson Laboratory.
02:47:14Which is a nonprofit research academic lab.
02:47:16So they have much more for
02:47:18research and academic focus.
02:47:19So I but they do have a small clinical
02:47:22genomics lab and so that's where
02:47:24I was working when I was there was
02:47:27in the clinical lab and then I.
02:47:29Most recently went to a private
02:47:31company called Semaphore which was
02:47:33actually that same Mount Sinai lab,
02:47:35but it converted into a private company
02:47:38and so now you know I work for a more
02:47:41of a for profit commercial company,
02:47:44so I've kind of been in all the
02:47:47different types of labs and so it's
02:47:49been interesting to kind of get
02:47:51the perspective of each of those.
02:47:54And another thing I think this
02:47:56informed me for, you know something
02:47:58that's relevant to counseling is.
02:48:00And I've got a good understanding of,
02:48:02you know, as a genetic counselor,
02:48:04when you order some of those
02:48:05genetic tests for a patient,
02:48:07you know I have a good idea of you know
02:48:09what that means and what's actually
02:48:11going on in the laboratories where those
02:48:13tests are being performed and those
02:48:15results are being reported out from.
02:48:21As far as my application
02:48:22process to Bay Path suggested,
02:48:24counseling was something I
02:48:25was always interested in,
02:48:26and when I finished my undergrad,
02:48:28you know it it was around,
02:48:30but it still wasn't a huge field
02:48:32and so it was something I was always
02:48:35a little interested in but just
02:48:37didn't know much about and never
02:48:39really pursued it too strongly.
02:48:41And it's obviously exploded in
02:48:42the last five or ten years,
02:48:44you know, and so it really never
02:48:47kind of left the back of my mind.
02:48:49And then I started interacting with
02:48:52some Jenna counselors in the labs
02:48:54that worked at and someone I worked
02:48:57closely with actually applied for
02:48:58the Bay Path program and she actually
02:49:01just graduated from the path program.
02:49:03And so you know, I got a good sense
02:49:06of what that was all about, and.
02:49:11So I really decided that I was
02:49:14going to pursue this and.
02:49:16You know,
02:49:17so some of the things that I
02:49:19can really can't talk about.
02:49:21Hopefully,
02:49:21you know page might be able give
02:49:23you more insight on applying
02:49:25to multiple programs.
02:49:26For me there were really only at
02:49:29the time to online programs in
02:49:31the country and Boise State and
02:49:33they pass and for me you know I
02:49:36needed to be able to keep working.
02:49:39A lot and I have three young kids at home,
02:49:42so I really wasn't.
02:49:43Didn't see that I was going to
02:49:45be able to do an on site program
02:49:48and so for me I basically kind of
02:49:50had those as my two options and.
02:49:53I applied the base half.
02:49:56You know 'cause I had heard good things.
02:49:58I lived near there and so I actually
02:50:00knew some of the people who are
02:50:02very familiar with the program.
02:50:04And when I was working production laboratory,
02:50:06the program director actually brought
02:50:07a group of students from the PATH
02:50:10program to tour our clinical lab,
02:50:11and I gave them this horrible AB
02:50:14so it's able to meet some people
02:50:17from the program and.
02:50:19And so I had a good sense.
02:50:21So you know,
02:50:22some of the things I think that were
02:50:25strengths for me when I applied
02:50:27is my varied experience.
02:50:28So as I mentioned before, you know,
02:50:31working as a teacher and work in
02:50:33the lab give, I think,
02:50:352 unique kinds of experience.
02:50:36You know that piece were in
02:50:38the counselors or explaining
02:50:40genetics concepts to patients.
02:50:41My education background I thought was
02:50:43useful for that and the lab experience to,
02:50:46you know,
02:50:47to really know the back end of.
02:50:49What happens when we order
02:50:52tests for our patients?
02:50:53And so I think those were
02:50:57good experience to have.
02:50:59I also you know I did some traveling
02:51:01after college and talked about that
02:51:03a little in my personal statement
02:51:06about how it kind of gave me a
02:51:08broader perspective on different
02:51:09cultures and different people
02:51:11around the world and just kind of,
02:51:13I think,
02:51:14made me a more well rounded
02:51:16individual just in general.
02:51:17And then some observation and networking.
02:51:20So I did have a chance to observe a
02:51:22genetic counselor in cancer genetics
02:51:24only a couple of times before I applied.
02:51:28But as I said, I also kind
02:51:30of got to know some people.
02:51:33You know involved with the Bay
02:51:35Path program and the UConn
02:51:37program that they interact with.
02:51:38I I attended some seminars that they
02:51:41put on and so I mean I think it always
02:51:44helps to get to know whoever you
02:51:46can and generate counseling world.
02:51:48Still, a pretty small world,
02:51:50so in whatever area you live in,
02:51:52I feel like a lot of the counselor
02:51:54sent to to know each other because
02:51:57it's still a relatively small world,
02:51:59so it's good to just get to
02:52:02know whoever you can.
02:52:04And then you know,
02:52:05I think when it comes to your
02:52:06personal statement and your interviews
02:52:08just being authentic is probably
02:52:10the most important thing is,
02:52:11you know,
02:52:12just you know,
02:52:13don't tell him what you think
02:52:14they want to hear so much as just
02:52:17tell them about yourself.
02:52:18Tell them why you think you would
02:52:20be a good fit for their program
02:52:22and why you think that you would.
02:52:24You know Jenna counseling would be
02:52:25a good career for you and you know
02:52:28what personal experiences you have.
02:52:29You think make you a strong
02:52:31candidate and would be relevant
02:52:32to going into that career.
02:52:34And I think that's.
02:52:36Probably the best advice I can get
02:52:38as far as the application process goes.
02:52:44So as far as now that I'm
02:52:46in the Bay Path program,
02:52:48you know some things that work for me.
02:52:51The online aspect of it really allows
02:52:53a lot of flexibility and you know
02:52:55the program directors are, you know,
02:52:58really accommodating and flexible,
02:52:59and they're willing to work with you.
02:53:02And really, they want everyone to succeed,
02:53:04and they're really great about you know,
02:53:07doing everything they can to work
02:53:09with people to make sure everyone
02:53:11is is succeeding and getting the
02:53:13most out of their experience.
02:53:16Time management is definitely key.
02:53:17You know I'm working full time so
02:53:20far and it's a full time program.
02:53:22As I mentioned,
02:53:23I have three young kids so you
02:53:25know I will say it's been pretty
02:53:28intense balancing all of that.
02:53:29But you know, I've survived.
02:53:31I'm I'm still doing it and I'm
02:53:33learning a lot and really enjoying it.
02:53:36So it's definitely.
02:53:37It's definitely something you can do.
02:53:40And.
02:53:42One other great thing about the Bay
02:53:44Path program is it's, you know,
02:53:46pretty small group and we're very.
02:53:48It's a very tight knit group and
02:53:50we're very supportive of each other
02:53:52and it's almost like a family
02:53:53atmosphere where really everyone
02:53:55students and program directors and
02:53:57instructors is really invested
02:53:58in making sure everyone succeeds.
02:54:00So if at any time you know you're
02:54:02having a struggle with something,
02:54:04you can just reach out to any of
02:54:07your classmates or did any of
02:54:09the program directors and someone
02:54:11is going to help you out.
02:54:13And help you figure things out
02:54:14and get through things,
02:54:15so that's been a great part
02:54:17of the program for me.
02:54:21So yeah, I mean this is my average day,
02:54:23so we just finished the first
02:54:24year this past semester.
02:54:26We had classes, so I would go to work.
02:54:28I have a long commute too,
02:54:29so it just kind of adds to my time.
02:54:33I'd come home help with my kids
02:54:36and then get to work at night.
02:54:39Usually reading,
02:54:40watching lectures and videos
02:54:42or completing assignments and
02:54:44then this past semester we had
02:54:46to do 10 observation days.
02:54:47So we just finished that.
02:54:49And so I was able to observe
02:54:52various specialties and various
02:54:54student counselors and then.
02:54:57Starting next week we go into
02:54:58our next semester and we'll have
02:55:00our full clinical rotations,
02:55:02which is about two to three days a week,
02:55:05and so I'm going to have to.
02:55:08Reduce my work.
02:55:09At this point I'll I'll be going
02:55:11down to two more like two or
02:55:13three days a week at work as well,
02:55:15because you just need to have that.
02:55:18All the extra clinic time you know
02:55:20will make working full time at
02:55:21this point pretty difficult, but.
02:55:25That's about all I have,
02:55:26so my email address is here as well,
02:55:29so if anyone has any questions,
02:55:31happy to answer.
02:55:32Or if you want to email me on the side.
02:55:36I'm happy to answer any questions
02:55:38or tell you more about.
02:55:41My experience is so thank you.
02:55:53Thanks Mike page. Do you wanna wrap
02:55:56us up here before our Q&A? Yes,
02:56:00so let me share my screen.
02:56:05Let's see.
02:56:11OK, can everybody see
02:56:13that right? Yep, awesome.
02:56:14So my name is Paige Clique.
02:56:16I live in Sacramento,
02:56:18CA and like Mike just said
02:56:20we just finished our first
02:56:22year at Bay Path University.
02:56:23My slides aren't super exciting so
02:56:26don't get your hopes up for this,
02:56:28but I'll give you a little bit
02:56:30of my background and kind of
02:56:33share my story and my experiences.
02:56:35In 2017. I graduated from BYU,
02:56:37Hawaii with a bachelors degree in biomedical
02:56:39Sciences with a minor in biochemistry.
02:56:41I actually thought that I wanted
02:56:44to be a medical geneticists.
02:56:45I applied to medical school but kind
02:56:48of partly through that process.
02:56:49I realized that that's not really
02:56:51what I wanted to do an I preferred
02:56:53the genetic counselor aspect of
02:56:55patient care better and kind of
02:56:57switched gears a little bit there.
02:56:58So in the fall of 2018, I applied to
02:57:01the boy C state program an like Mike.
02:57:03I wasn't really in a position to be able
02:57:06to move and attend an interesting program,
02:57:08and I didn't even know of the
02:57:10Bay Path program at that point,
02:57:12so I applied to boy, see,
02:57:14I interviewed with them, but I do not match.
02:57:16And the following year I applied
02:57:19to both Boisi anbe path.
02:57:20I interviewed at both of them and
02:57:23then of course I matched at Bay Path,
02:57:25which was my first choice.
02:57:27And so you know,
02:57:28there are some of you listening
02:57:30that have applied before
02:57:31Internet match or some
02:57:33of you who will probably experience
02:57:34that in the future. And that's
02:57:36a horrible feeling. I think I'll
02:57:38always remember how
02:57:39disappointed I was in myself.
02:57:40That first match day when I didn't
02:57:43match and it's OK to be disappointed.
02:57:45It's OK to be sad and take a
02:57:47moment to feel those feelings,
02:57:49but you need to pick yourself up and
02:57:51figure out what you need to do to make
02:57:54yourself more prepared for next time.
02:57:56And I just want to add that it's not
02:57:58necessarily about making yourself.
02:58:00Look better as an applicant and
02:58:02making the schools like you,
02:58:03but
02:58:04it's really about preparing yourself to begin
02:58:06grad school and actually
02:58:07being ready for that.
02:58:10So during my undergrad I was a tutor for
02:58:13the genetics class at my university,
02:58:15but aside from that I didn't really
02:58:17have a lot of work experience that
02:58:19was directly related to genetics,
02:58:21so a lot of my current classmates have worked
02:58:24in a lab like Mike or word bcas before,
02:58:27and I did not have an opportunity
02:58:29for any of those jobs.
02:58:31So if you're in a position like me
02:58:34where you don't feel like you have
02:58:36that job experience that's directly
02:58:38related to genetic counseling.
02:58:40Don't worry about it.
02:58:41I did learn a lot of skills in my
02:58:43other jobs that can be applied
02:58:45to genetic counseling.
02:58:47So if you're in that position,
02:58:49just make sure that in your
02:58:51application in your
02:58:52interview that you're
02:58:53able to express how those
02:58:54unrelated jobs can help you both.
02:58:56As a grad student and as a future GC so
02:59:00you don't have to have those specific
02:59:02job experiences and genetics. Going on
02:59:04to what I did
02:59:05do and then also what I
02:59:07did to improve myself after not
02:59:09matching before I applied again.
02:59:10Of course the number one thing is shadowing.
02:59:12I'm sure you hear that all
02:59:14the time and I know that's
02:59:16difficult now with COVID as well.
02:59:17So the first time I applied I
02:59:20had shadowed at one clinic and
02:59:21I was there for a month.
02:59:23But I still felt like when I
02:59:25was applying again, I needed
02:59:27to have a little bit more of a
02:59:29varied experience just to help
02:59:31me know really what to expect
02:59:33from how different clinics run
02:59:34as well as just to have something
02:59:36else to add to that resume.
02:59:38So I shot out two additional clinics,
02:59:40all of which were Pediatrics,
02:59:42which is what I want to work in,
02:59:44so that's just helpful to see how different
02:59:46institutions and providers do things.
02:59:48I'll go through this other stuff
02:59:50pretty quickly, 'cause Maria
02:59:51kind of gave you a pretty good.
02:59:54Intro to some of this stuff.
02:59:56I also attended some conferences
02:59:58like the Muscular Dystrophy
03:00:00Association engaged DMD Symposium.
03:00:01There was an event very similar
03:00:03to this that I attended in person
03:00:06that was in the Bay Area of
03:00:09California a couple years ago.
03:00:12Outside of my normal volunteer work,
03:00:14I did not have any specific crisis
03:00:16counseling the first time I applied,
03:00:17so I went through a crisis training
03:00:20and began volunteering with the
03:00:22California Youth Crisis line.
03:00:23And then the most comprehensive part of my
03:00:25application was my volunteer work.
03:00:27So these are just a few of the logos
03:00:29from some of the organizations that
03:00:31I volunteered with, so I don't need
03:00:33to go into this too much. But you can
03:00:36see I have a mix of a lot of different
03:00:38things, so while I do have some
03:00:41organizations that are related to more
03:00:42of the medical side of things and some
03:00:45genetic things like muscular dystrophy,
03:00:46of course the American
03:00:47Cancer Association as well.
03:00:48There are some other things in there as well,
03:00:51so it is important for me to be more
03:00:54well rounded and have a variety of
03:00:56different experiences volunteering.
03:00:58And then going on to what I do now
03:01:00every day I have a 9 month old daughter.
03:01:03She was two months old when I started
03:01:05my program and so I love our online
03:01:08format because it allows me to do my
03:01:10schoolwork while she's not being,
03:01:11or she spends a lot of time just
03:01:14sitting on the floor next to me
03:01:16playing while I'm doing my work.
03:01:18So if she needs me, I can stop what
03:01:20I'm doing and come back to it later.
03:01:23So that is one reason that I really love our
03:01:26program and the online format of it because.
03:01:28I don't have to leave my baby and I
03:01:31don't have to go sit in class all day,
03:01:33so I would guess that I spend
03:01:36about 25 hours a week on school.
03:01:38I asked my husband.
03:01:39He thinks I spend a lot longer than,
03:01:42but I would say about 25 hours,
03:01:44maybe longer,
03:01:44but I do get interrupted a
03:01:46lot because of my baby.
03:01:48So you probably could get all of
03:01:50your work done faster if you're
03:01:51able to have uninterrupted time. That
03:01:53set aside and focus on that.
03:01:56So some of the things that
03:01:58we do in our program. Of
03:02:00course, we watch our lectures.
03:02:02Those are almost
03:02:03all pre recorded so you can watch
03:02:05it on your own time like Mike has
03:02:08to go to work during the day.
03:02:10He can do it later at night.
03:02:13Everybody in our program
03:02:14has a different situation.
03:02:15There are some of our classmates still work.
03:02:18A lot of us have kids, everybody's
03:02:21different. So it's really a great
03:02:23way to be able to personalize our
03:02:25experience. And be able to make it
03:02:27work with our own
03:02:29needs and our schedules
03:02:30so we watch
03:02:31lectures. We have chapters that we
03:02:33read in our textbooks, other articles.
03:02:35Sometimes there are supplementary videos.
03:02:37Most of our assignments are due Sunday, so
03:02:39we have the whole week to work
03:02:42on it. Discussion boards we
03:02:44do where we answer the question.
03:02:46We respond to our classmates. We
03:02:49have a lot of group projects that we do.
03:02:51We work together a lot with our classmates.
03:02:54We do role plays or one of
03:02:55us is a genetic counselor.
03:02:57One of us is the patient just to
03:02:59practice some of those skills.
03:03:01We have video presentations where
03:03:03we record ourselves giving the
03:03:04presentation for our classmates to
03:03:06watch all the other assignments,
03:03:08quizzes, tests, things that you
03:03:09would expect from a program.
03:03:12Something that I wish I knew.
03:03:15I get this question.
03:03:16I've talked to some applicants
03:03:18before and they always ask
03:03:19me what I wish I knew.
03:03:22While our program isn't easy,
03:03:23it definitely isn't
03:03:24easy by any means. There is a lot of
03:03:28work. It's very doable.
03:03:29Our program faculty is
03:03:30wonderful. We love them there. They're
03:03:33very flexible. They are
03:03:34very easy to get a hold of.
03:03:36If we need anything
03:03:37we can reach them easily and they'll
03:03:39help us with whatever we need.
03:03:41Like Mike said,
03:03:41everybody wants us to succeed.
03:03:43Nobody's out to get us.
03:03:46Very helpful if we need anything like I
03:03:48said, So what I wish I knew is that is
03:03:50not as scary as
03:03:51people make it up
03:03:52to be an our faculty. They treat us
03:03:55like professionals and like adults,
03:03:56not like little kids, which is great. And
03:03:58that's of course how it should be.
03:04:01So just one tip that I have is to
03:04:04plan your week out ahead of time time
03:04:06management again. Like touched on,
03:04:08this is crucial because it is a
03:04:10lot of work and it's a lot
03:04:12of material to cover. And
03:04:14if you wait until the last
03:04:15minute, it's definitely
03:04:16not going to work out very
03:04:18well for you and then again,
03:04:20another tip I have is if it's been awhile
03:04:23since taking some of those fundamental
03:04:25classes like genetics or Embryology,
03:04:26maybe brush up a little bit on
03:04:29those before starting your program.
03:04:32I think that's everything that I have to say,
03:04:34but here's my email address if you
03:04:36have any specific questions for me,
03:04:38or if you need any help with anything.
03:04:46Alright, and that brings us
03:04:50to our official Q&A section.
03:04:54Like I said, I will put
03:04:57up everyones emails here.
03:04:59I just ask that you all as participants
03:05:02be mindful that as much as we
03:05:04would love to have a shadowing
03:05:06opportunity for every single one of
03:05:08you that is just not something that
03:05:10we can accommodate at this time.
03:05:12So feel free to email our panelists today
03:05:15if you have any particular questions,
03:05:17maybe about their experience or
03:05:19something that they had talked about,
03:05:21or a follow-up question that isn't
03:05:23addressed during this portion.
03:05:24But if you do ask about shadowing
03:05:27opportunities,
03:05:27we're all going to say the same thing,
03:05:30so we'd appreciate it if you just.
03:05:32Be mindful of that,
03:05:33and of course if you have any
03:05:36questions more generally,
03:05:37you can send me Alex an email
03:05:40and my email is down here.
03:05:44But I think to start the Q&A I
03:05:46just wanted to turn it over to the
03:05:48panelists to say if there's anything
03:05:50that they had forgotten to talk about.
03:05:53Or seeing these questions if
03:05:55that brought up something,
03:05:56anything that you would like
03:05:58to address before.
03:05:59I guess we just start picking.
03:06:01Start picking different questions.
03:06:02Sure I
03:06:03can. I just address
03:06:04the match system because I feel like a
03:06:07couple of people have asked in the Q&A.
03:06:09So what the match system is anybody
03:06:11who wants to apply to a genetic
03:06:14counseling training program must.
03:06:16They must register with the this
03:06:18match company and you get a number
03:06:21and then every place you want to
03:06:23apply you have to include this number
03:06:25once you go through the application
03:06:28process and if you get interviewed
03:06:30then you need to put your schools
03:06:32that you have interviewed with.
03:06:34You rank them in order of where you
03:06:37would like to go and the schools
03:06:40rank in order of the students that
03:06:42they wish to have participate in
03:06:44the program and those are binding.
03:06:46Then match, that happens.
03:06:48It's usually like April 23rd ISH and
03:06:49then it's all put into a computer
03:06:51system and you're matched up that
03:06:53way and it works out really well,
03:06:55but it is binding an.
03:06:56You do have to sign documents and
03:06:58you cannot like there's no sneaking
03:07:00around the back and there's no like
03:07:02saying oh I'm going to put you first
03:07:04now I'm going to put you first.
03:07:06It's like you know you have to follow.
03:07:08Follow the rules and it's worked
03:07:10out pretty well.
03:07:11It's been,
03:07:11I think three years so it's worked out well.
03:07:20Perfect yeah, I did see a lot of
03:07:23different questions about the match.
03:07:28And I don't know calling
03:07:29if you could speak to.
03:07:31You know the percentage
03:07:33of second year applicants,
03:07:35or you know that you so gosh.
03:07:39You know those numbers are out there?
03:07:41I don't know them off the top of my head.
03:07:45I know that consistently about 50%
03:07:47of applicants match, so I I'm.
03:07:49I'm sorry I don't know
03:07:50they're definitely out there.
03:07:52I just don't know them
03:07:53off the top of my head.
03:07:58That's OK, I'm sure there's
03:08:00a lot of data on that,
03:08:02but I think that's something I
03:08:04had seen in the questions as well.
03:08:09And for our practicing genetic counselors,
03:08:11there were a lot of questions
03:08:12about self care and burnout,
03:08:14and I know our team of panelists have been
03:08:17answering these questions throughout the Q&A.
03:08:19But I do think it's an important
03:08:21point to touch on.
03:08:22If anyone could talk about.
03:08:25Either at work or during their
03:08:28genetic counseling program, how?
03:08:29Burnout was approached and how
03:08:32we handle it and the field.
03:08:39We talk to each other a lot.
03:08:44Very true, yeah. I was going
03:08:46to say that burnout it is.
03:08:50It is definitely talked
03:08:51about in Graduate School,
03:08:53and it's definitely something that
03:08:55occurs when you're practicing.
03:08:56It is something that I think,
03:08:59and I entered this in a question,
03:09:01but it is something that you
03:09:04get better with dealing with and
03:09:06coping with as you practice,
03:09:08and probably the.
03:09:09Thing that's helped the most in terms
03:09:11of dealing with burnout is as just
03:09:13as Arbiter said it actually talking
03:09:15about your experience with other
03:09:17genetic counselors has been a really
03:09:19great way to deal with burnout.
03:09:21I think it's hard sometimes.
03:09:22You know we have friends and partners,
03:09:24but they not may not understand
03:09:26what we do and the burn out of it.
03:09:29So I think having a close group
03:09:31of genetic counselors that you
03:09:33feel comfortable sharing difficult
03:09:34cases and emotions has been a
03:09:36really great help and in general
03:09:37just I mean in general self care
03:09:39which can look different to other.
03:09:42Many different people, but it could be just.
03:09:45Turning off your computer,
03:09:46closing your computer at certain time
03:09:49when you've hit 8 hours and saying I'm
03:09:51not checking my email This weekend,
03:09:53it could be putting your phone on silent.
03:09:56It could be make making time for
03:09:58lunch in the middle of the day.
03:10:01You wouldn't think how some genetic
03:10:03counselors work through lunch,
03:10:04but really taking 30 minutes
03:10:06really makes a difference,
03:10:07so I can't really speak to every
03:10:10sort of self care that helps.
03:10:12'cause that's really individualized,
03:10:13but burnout is something that is does happen.
03:10:16As a general counselor,
03:10:18it tends to come in different cycles,
03:10:20different patterns,
03:10:21but it is something that is
03:10:23cope with and I'm not sure if.
03:10:26Call collina Maria.
03:10:27Maybe can talk about how it's
03:10:29addressed in in Graduate School
03:10:31specific specifically.
03:10:35So we will
03:10:36go ahead. No, go ahead.
03:10:37I was gonna let you start
03:10:39since you have current
03:10:40students. Well so we
03:10:41talk about it an what to do in like the
03:10:44introduction to field work. Modules like.
03:10:49To pay attention to this, what you could do,
03:10:53we offer and debriefing meetings.
03:10:54Every Wednesday when students are in their
03:10:57field, work with me and you know those are
03:11:00optional because we are an online program.
03:11:03We try to respect that. But, you know,
03:11:06as much as you can talk about it,
03:11:09it has to be done.
03:11:10And that's the kicker.
03:11:12Is is actually doing it for yourself.
03:11:14And I think all of us.
03:11:17You know our our. Fall prey to that.
03:11:21I don't have time to like.
03:11:22Do that exercise or do what I want.
03:11:24Make those cookies or
03:11:25whatever it is I want to do.
03:11:27I gotta do this work but like Amy
03:11:29said you gotta shut it off and an
03:11:31keep that time for yourself so.
03:11:35I agree, yeah,
03:11:37I I totally echo your sentiments Colleen
03:11:39and and I know that this differs institution
03:11:42institution in school to school,
03:11:44how everybody chooses to to handle mental
03:11:46health with with students for burnout.
03:11:49You know, I mean, you can't obviously
03:11:51have a plan of what we would like
03:11:53to do with our students and I can
03:11:55speak about when when I was in grad
03:11:57school and that was very challenging.
03:11:59But I think what it comes down to is,
03:12:02is checkins, as you know,
03:12:03kind of not relying on yourself all
03:12:05the time to know that you're OK having
03:12:07someone else checking on you and and
03:12:09that should also be the role of faculty
03:12:11and advisors is to do regular checkins
03:12:13and make sure folks are OK and to you know,
03:12:16respect boundaries.
03:12:16I think it's very easy,
03:12:18like if I have time on a.
03:12:20Saturday night, like a while,
03:12:21I'm thinking of something.
03:12:22Email someone and and you know,
03:12:23maybe not think that they're
03:12:24going to look at it until Monday,
03:12:26but they might and they might, as a student,
03:12:27feel pressured to to respond right away.
03:12:29So I think you know,
03:12:30faculty may need to make a good,
03:12:31concerted effort to to recognize
03:12:33the limitations of students,
03:12:33because I think it really starts
03:12:35there with the whole yes.
03:12:36Yes, yes,
03:12:36I'll do whatever I can because
03:12:37I want to show that I'm a good
03:12:39student and then you get into the
03:12:40workforce and it's like yes,
03:12:42yes, yes I can.
03:12:42'cause I want to be a genetic counselor
03:12:44and I want my boss to see that and
03:12:46then we just don't really ever stop
03:12:48and we don't know how to say no.
03:12:50So I think learning your own
03:12:52limitations is really the first step.
03:12:54I'm gonna jump in here as a manager to
03:12:56some of the people who are speaking today,
03:12:59and I think that's you know really,
03:13:01to piggyback off what Maria is saying is,
03:13:03you know, we have you know,
03:13:05monthly checkins with all my staff.
03:13:06You know, I kind of closely watched.
03:13:08Hey, you worked a lot last week.
03:13:10Tell me what happened. How can I help?
03:13:12What barriers or challenges are sort
03:13:14of adding to that kind of overtime
03:13:16because I think we want to be really
03:13:18cognizant of a good work life balance.
03:13:20And you know that is really
03:13:22going to keep all of us.
03:13:23You know, mentally healthy.
03:13:24An emotionally available to our
03:13:26patients who need us, you know,
03:13:28as was mentioned before,
03:13:29we also have incorporated a peer discussion
03:13:31group with our genetic counselors,
03:13:32so it's an opportunity for them to
03:13:34really debrief on these difficult cases.
03:13:36The managers aren't there,
03:13:37so they kind of made me feel a
03:13:39little bit less pressure to say,
03:13:41well, I wish I had done this and
03:13:43I probably should have done that,
03:13:45but I didn't do it or I'm taking home.
03:13:48You know,
03:13:48this one patient and I just
03:13:50don't know how to shake it,
03:13:52and it's an opportunity for them
03:13:54to really talk through the case.
03:13:55And I think sort of let let it
03:13:58go and then hopefully over time
03:14:00that can help reduce the burden
03:14:03that they might be failing.
03:14:05There's also a lot of resources within
03:14:08various organizations for employees,
03:14:10so you know there's everything from
03:14:12meditation groups and mindfulness
03:14:14training and other resources that
03:14:16genetic counselors might even have
03:14:18within their own institution that are
03:14:20available to help support them and deal
03:14:23and cope with some of the emotional.
03:14:25Burden that might come from,
03:14:27you know,
03:14:28working with patients with giving difficult
03:14:30news and all of that goes with it.
03:14:32So you know,
03:14:33I definitely encourage you know
03:14:35students and our perspective,
03:14:36genetic counselors or new genetic
03:14:38counselors in the field to
03:14:39really tap into those resources.
03:14:41'cause that's what they're there for.
03:14:53Alex, can I just make that
03:14:55announcement real quick?
03:14:56It's not handful of questions on
03:14:58being an international applicant
03:14:59or an international student.
03:15:00It's probably not within the scope
03:15:02of today's talk, but reach out to me.
03:15:05You know if you have any of those questions.
03:15:08I was an international student.
03:15:09I'm on a visa currently and I also Co.
03:15:12Chair the International Special
03:15:14Interest Group of NSG and we
03:15:16have a couple of resources that
03:15:17we can share with
03:15:19you if you have specific questions.
03:15:21My name is Arpita. And
03:15:22feel free to email me.
03:15:27And I think I saw this question twice now,
03:15:30but people had asked what made
03:15:32someone go into their specialty,
03:15:34or how did they end up choosing that?
03:15:37Especially since as genetic counselors
03:15:38are training, is all really the same.
03:15:41But then we can go down different paths.
03:15:43So if anyone wants to talk about that.
03:15:50I can go first and speak
03:15:53from cancer genetics.
03:15:55So the reason why I chose Cancer
03:15:59Genetics is because for me.
03:16:02It's my I was more interested in the
03:16:05prevention part of genetic testing
03:16:07and something that really stuck
03:16:09with me was when before I applied
03:16:11to grad school I was shadowing with
03:16:14a genetic counselor who worked in
03:16:16cancer and she said that you know,
03:16:19cancer genetics is one of the
03:16:21not the only specialty,
03:16:22but one of the specialties in genetic
03:16:25counseling that actually can be preventative.
03:16:28Or lifesaving in terms of preventing cancer?
03:16:31So when, so that really stuck
03:16:34with me and I think.
03:16:37I think in terms of that I like
03:16:39being able to work with patients to
03:16:42actually change outcomes in terms
03:16:45of cancer because I do see it as
03:16:48being very important work I do like
03:16:51in terms of cancer genetics that.
03:16:53It is, it is something I autonomous
03:16:56so we talked about pediatric genetics
03:16:58and in some parts of cardiac genetics
03:17:01there's work with a Jeanette Assist
03:17:03or another physician, cancer genetics.
03:17:05In general there's there's not really
03:17:08direct work with a physician and less
03:17:10we're doing a combined deployment,
03:17:12which is a little bit different.
03:17:15So essentially that was my perspective
03:17:17on when I was in grad school and I was
03:17:20experiencing different types of rotations.
03:17:23Why ultimately decided to?
03:17:25Pursue cancer.
03:17:31Yeah, I would really use
03:17:32a lot of the rotations as
03:17:34your as a perspective students
03:17:36opportunity to really explore
03:17:37what each specialty looks like.
03:17:39What are aspects of the rotation that you
03:17:42really like that you would want to see in
03:17:45a full time position when you graduate?
03:17:47What are you know types of the rotations
03:17:50that you don't really mesh as well with,
03:17:53so that when you're applying to positions
03:17:55you can say you know what I really liked,
03:17:58that I had autonomy.
03:18:00Or I preferred to work closely with
03:18:02the geneticists and that can help
03:18:04narrow down what specialty might
03:18:06be a better suited for someone.
03:18:08What I also would say is that if
03:18:11there is a specialty that you're
03:18:13going into Graduate School,
03:18:15known that you really want to be a
03:18:17part of upon graduation to maybe
03:18:19choose your thesis or Capstone
03:18:21project in that specialty area,
03:18:23or if you have an opportunity to
03:18:26do an extra clinical rotation,
03:18:28choose it in that specialty.
03:18:30Maybe choose some volunteer work.
03:18:31Any school that affords you to you know,
03:18:34work in that specialty.
03:18:35And so when we're hiring people,
03:18:37I really like to see that someone's
03:18:39had cancer experience,
03:18:40not just through the rotations,
03:18:42but they've done.
03:18:43They chose to have their thesis
03:18:45in that specialty as well.
03:18:46So much like you're all thinking
03:18:48about how to make my application
03:18:50the strongest to get into school,
03:18:52we're also looking at how did
03:18:54you use school to get into,
03:18:56especially that you might want
03:18:58to be interested in landing an,
03:18:59you know,
03:19:00doing everything you can to then
03:19:02strengthen that application from
03:19:03the day one of you starting school.
03:19:06To the very end.
03:19:06So if there was journal clubs
03:19:08that you could choose an article,
03:19:10choose it in the specialty that you
03:19:11liked it in and put that on your
03:19:13resume and you know things like that
03:19:15are all opportunities and things that
03:19:16we look for as an employer to see
03:19:18that people are sort of recognizing
03:19:20what things were going to work well.
03:19:22Then they can speak to that
03:19:23during the interview process.
03:19:31I think I'd like to add
03:19:33that it's great for people to
03:19:35be open to new experiences too.
03:19:37I know plenty of genetic counselors
03:19:39that really were quite confident
03:19:41they knew what they wanted to do
03:19:43after they graduated. But then,
03:19:46perhaps there wasn't a job
03:19:47available in their
03:19:48very restricted geographic area
03:19:50that gave them that opportunity,
03:19:52so they just took a chance and
03:19:54tried something that they actually
03:19:56thought they wouldn't like
03:19:58very much, but they.
03:20:00Needed that paycheck and then lo and behold,
03:20:02they really enjoyed it and now
03:20:04they stayed in it even though they
03:20:06had an opportunity to switch out.
03:20:08So I think that's what's great
03:20:10about being in training programs
03:20:11that you'll have an opportunity
03:20:13to experience many things.
03:20:14You're also see that you
03:20:16know being a cancer genetic counselor
03:20:19at one setting could be very
03:20:21different than being a cancer
03:20:22genetic counselor at another setting.
03:20:24Just says for me,
03:20:25prenatal counseling in one center.
03:20:27Very different in one center,
03:20:29you might be imbedded in the
03:20:31genetics department and have.
03:20:3315 colleagues,
03:20:34including geneticists and
03:20:35genetic counselors,
03:20:35and in another setting you might
03:20:37be the only genetic counselor
03:20:39working with OBGYN's so that
03:20:41experience and what you share with
03:20:43your classmates will also help to
03:20:45teach you like what what makes me
03:20:48comfortable at this stage in my
03:20:50career, because who knows what you
03:20:52might want five years in two years
03:20:55in and what's exciting is, I think
03:20:57there's a lot of opportunity for people
03:21:00to kind of pivot
03:21:01as they go through
03:21:03their profession as a genetic counselor.
03:21:05And try new and exciting things
03:21:07along the way and expand their
03:21:10skill group and their confidence.
03:21:12You know with every new experience.
03:21:18Yeah, I think that's really,
03:21:19really nicely sad,
03:21:20and some of our panelists here have.
03:21:23You know, had various genetic
03:21:25counseling roles, not necessarily
03:21:27in the same specialties,
03:21:28so I think the flexibility is also
03:21:31another draw to the
03:21:33field. Having one degree doing
03:21:35many different things, but.
03:21:37Thinking about. Wrapping up this event
03:21:41and genetic counselors looking to
03:21:43the future, one of our participants
03:21:46asked. What we think the
03:21:49future of genetic
03:21:50counseling more will look like,
03:21:52which is a very broad question.
03:21:54So does anyone want
03:21:55to take a
03:21:56stab at? Any hunches they
03:21:59have or? And what they think
03:22:01will change or stay the same.
03:22:08Or I can talk a little bit.
03:22:11I'm Lamsam's counterpart in
03:22:12the general genetics clinic.
03:22:16So I'm in a couple
03:22:17of groups that are kind of
03:22:19working on how genetic counselors
03:22:20are going to fit into a more.
03:22:23Precision medicine or
03:22:25preventive genetics rules?
03:22:26So I think that's somewhere that we're
03:22:29going to expand into in the future
03:22:32where we're helping asymptomatic
03:22:33individuals decide what type of genetic
03:22:36testing would be helpful for them.
03:22:38And I've seen some questions about
03:22:41whether or not we address things like
03:22:44Nutrigenomics and I think there's a
03:22:46lot of possibility for genetic testing
03:22:49to extend into those types of rules
03:22:52we traditionally haven't really had.
03:22:54A lot of exposure to that and many
03:22:56of us don't necessarily have the
03:22:58expertise to go in depth for counseling
03:23:00on nutrition mix for example,
03:23:02or microbiome testing,
03:23:03but I think in the future,
03:23:05as we add that into curriculum and more
03:23:08of us become exposed to it overtime
03:23:10and there might even be guidelines
03:23:12one day on that type of testing
03:23:14and counseling and
03:23:15how to give those
03:23:16types of results back or interpret them.
03:23:18I think that's somewhere that we could even
03:23:21move into in
03:23:22the future too.
03:23:25Think along those lines,
03:23:26there is a really good article
03:23:28about looking at into 2030 like the
03:23:30future of genetic counseling and
03:23:32I'll try post the link on the chat,
03:23:34but it talks about how.
03:23:37Genetic counselors are expecting people to
03:23:39have genomic information at their fingertips.
03:23:41It's all going to be digitalized and you
03:23:44know, patients might have their raw data,
03:23:46or you know their genetic
03:23:48risks easily accessible,
03:23:49and so genetic counseling might
03:23:51have to follow that as well.
03:23:53Like, how do you make sure
03:23:55genetic counseling is as easily
03:23:56accessible to patients?
03:23:57So that's a really cool article.
03:23:59I'll
03:24:00try to post it in the chat now.
03:24:10Things are, but I'd actually
03:24:12really be curious to to read that,
03:24:14and I'm sure everyone attending here
03:24:17today would also be interested.
03:24:19So anyone have any final
03:24:21thoughts that they'd like to
03:24:22share words of words of wisdom?
03:24:24I'm sorry we didn't get to all
03:24:27of those questions, but again,
03:24:29do you feel free to reach out?
03:24:32To any of us here on the panel,
03:24:35but good luck if you're applying
03:24:37for this upcoming cycle.
03:24:38Good luck in the future if you plan
03:24:41to apply and anyone else is welcome
03:24:44to say last words before I end the
03:24:47event and I will send out that survey.
03:24:49A survey will have a couple of
03:24:52questions for you and your reward
03:24:54for helping us improve the event
03:24:57will be a link to the recorded.
03:24:59A recording of the event,
03:25:01so thank you for coming.
03:25:10Just wanted to echo Alex and just say it was
03:25:13a pleasure talking with everyone you know.
03:25:16And please don't be a stranger
03:25:19with any questions about.
03:25:20Cancer genetics, genetic counseling.
03:25:22Everyone here on the panel loves talking
03:25:25about genetic genetic counseling.
03:25:27That's why we're here.
03:25:29No, please don't be a
03:25:31stranger we we absolutely.
03:25:34I mean, I think it's because
03:25:36everyone we love this field,
03:25:38I love this field just because of
03:25:40how many different facets there are,
03:25:42and I just I just respond to a question.
03:25:45But obviously you know the field we need.
03:25:48We need more diversity in the field.
03:25:51There was a recent report,
03:25:52the accident report that came out that
03:25:55was disappointing in terms of there's
03:25:57not enough inclusion and is not enough
03:25:59of positive response to diversity
03:26:01in the genetic counseling field.
03:26:03So really,
03:26:04we need genetic counselors of all
03:26:06different backgrounds, you know?
03:26:07Different educational backgrounds,
03:26:08different jobs, different races,
03:26:10different gender expressions.
03:26:11We need all those different aspects
03:26:14actually strengthen the field.
03:26:15So I'm really excited with where genetic
03:26:18counseling can go and where it will go.
03:26:22So definitely don't be a
03:26:24stranger with any questions,
03:26:25any concerns, and it was a pleasure.
03:26:29Talking with him,
03:26:30talking to all of you.
03:26:36Alright, thank you everyone.
03:26:37Possibly see you next year but
03:26:39stay tuned and have a good weekend.
03:26:44Bye.