Smilow Shares: Understanding Genetic Testing and Counseling

September 23, 2020

Information

Dr. Erin Hofstatter, Amanda Ganzak, Licensed Genetic Counselor, Camille Varin-Tremblay, Licensed Genetic Counselor, and Elizabeth Del Buono, Licensed Genetic Counselor, share information about genetic counseling and testing.

ID5663

To CiteDCA Citation Guide

00:00Tonight is the first of several
00:02of the next several weeks.
00:04As part of this Milo shares program
00:06where we'll be talking bout cancer
00:09genetics and hereditary cancer
00:10syndromes and how to best take care
00:13of yourself if you or a loved one or
00:16friend has one of these syndromes.
00:18So tonight, welcome.
00:19I'm so happy that you could join
00:21us and tonight is gonna be a
00:24night discussing cancer genetics,
00:25really, to provide an overview.
00:27So I'll start off with just
00:29a brief introduction,
00:30sort of overview of the program.
00:33And then I am joined tonight
00:35by some fabulous,
00:36fabulous members of our team.
00:38You'll hear from Amanda Ganzak
00:40Wanna Varley genetic counselors
00:42you'll hear from three of our
00:44fabulous genetic counselors,
00:45Camille Veron, Tremblay,
00:46Elizabeth Alborno,
00:47an Alexander McClellan.
00:48So will cover a overview of topics
00:51and then will be opportunity
00:53to ask questions at the end.
00:55So with that I will go ahead and get
00:58started by just providing you an
01:00overview of our smilow cancer genetics and.
01:03Pension program,
01:05so hopefully my computer is working.
01:11Come on slides.
01:16I promise you this was working.
01:17There we go.
01:18Are you controlling Alex?
01:19Do you want to go ahead and control?
01:21That's fine by me.
01:23OK Alex, you go ahead so our smilow
01:25cancer genetics and Prevention
01:27program was actually started in July
01:292014 as an organization that cancer
01:31genetics program at smile ahead
01:33existed for several years prior to that.
01:35But Meanwhile there had been a
01:37lot of high risk and prevention
01:39efforts that had kind of siloed
01:41themselves within the hospital.
01:43And so July 14,
01:45we decided to join together and we
01:47formally launched in the summer of 2015.
01:50So we've been around for about five years.
01:53Our goal is really to come together
01:55with genetic counseling with oncology
01:57with high risk and Prevention
01:58programs and really build almost
02:00a one stop shop if you will.
02:02For patients with hereditary
02:03cancer syndromes or who might
02:05have a strong family history,
02:06our home base is shown here.
02:08We are we reside if you will,
02:10on the Saint Rayfield campus
02:12in the Orchard Medical Center.
02:13Our windows are just to the
02:15left of that picture,
02:16but we're not only present in New Haven,
02:19but we have locations at Saint
02:20Francis at Bridgeport Hospital,
02:22Trumbull Lawrence Memorial
02:23Greenwich Hospital and Torrington.
02:25We are doing visits on site.
02:27We have opened up post cobit or
02:29during kovid and we do have Tele
02:31Medicine Services available as well.
02:33Alex could you go to the next slide?
02:37Thank you.
02:38I'm technologically challenged these days.
02:43It appears I am as well hold on.
02:46Start now. There we go.
02:47So the program that we really
02:49endeavour to build is not just
02:51about providing clinical care,
02:52though that obviously is the
02:54foundation of what we're trying to
02:56do is to take good care patients.
02:57But we have an interest in research.
02:59We have an interest in education and we
03:02have an interest in community outreach
03:03in doing programs like this so that
03:06people can learn more about these pro.
03:07These programs in these issues,
03:09the next slide.
03:10Thank you and look at our fabulous team
03:13so the medical director of the cancer
03:15genetics and Prevention program is the
03:18esteemed doctor Shah of your who is
03:20a gastroenterologist and the program
03:22is also led by our cyantific Director,
03:25Doctor Alan Bale,
03:26who is Jeanette Assist.
03:27Arlie genetic counselors are
03:29clear helion Amanda Ganzak,
03:30both whom are here tonight on the call and
03:33we have several programs including myself.
03:35I helped lead the breast program.
03:37Shabbier leads the gastro.
03:39Enterology program gynecology.
03:40I know many of you know doctor Elena Ratner.
03:43Doctor Masoud Azodi are pancreatic
03:45program is led by James Farrell
03:48and for those with more rare or
03:51specific genetic syndromes they are
03:53seen by Alan Bail the next slide.
03:55Thank you and here's our team.
03:57Our team continues to grow,
03:59so you have here a list of Gosh,
04:01I think we're up to nine other
04:04genetic counselors listed here.
04:05We have assistance by Susan Schmiel
04:07or a PRN and we've got a fabulous
04:10staff and special thanks to a partner
04:12for help setting this night up.
04:15The next slide.
04:17So in the next few minutes,
04:19I'll go through just the highlights
04:20of each of our specific programs.
04:23So the program that I've helped
04:24to build is the breast cancer
04:26genetics and Prevention program,
04:28where we're really trying to take take
04:30comprehensive care of our patients
04:32both in providing risk assessment,
04:33education screening and really multiple
04:35disciplinary care for women who might
04:37be at increased risk of breast cancer.
04:39So again,
04:40I've mentioned myself in sushi meal,
04:42but at we have Doctor Karish,
04:44MA Mara, Doctor, Uncle,
04:45Garou, and Jenna Addison.
04:47At different locations throughout
04:48the state an we seek to help those
04:50women with a strong family history
04:52of a genetic predisposition or women
04:53who might be at risk for other
04:55reasons such as breast atypia.
04:57Next slide.
04:58Then of course,
04:59there's the colon cancer genetics
05:01and Prevention program.
05:02Again trying to provide the same
05:03type of care for people who might be
05:05at increased risk of colon or other
05:07gastroenterology gastrointestinal cancers.
05:09So Sue is the glue that holds us all
05:11together so shabby works with suing
05:13his program primarily based in New Haven.
05:15An again looking for folks with a
05:17strong family history of colon cancer,
05:19a genetic predisposition or and or a
05:21significant history, colon polyps,
05:22and then Lastly and are my last
05:24slide is the pancreatic cancer
05:26early detection clinic,
05:27so this is again run by Doctor James.
05:29Pharrell he is joined by a fabulous nurse,
05:32Scott Merenda and Sue Ann and their
05:34clinic runs out of New Haven and again,
05:36looking at patients really trying to
05:38take good care of patients who might be
05:40at increased risk of pancreatic cancer,
05:42so that may be due to strong family history.
05:45Again, a genetic predisposition,
05:46or those folks who have hereditary
05:48pancreatitis at one unique feature
05:49about Doctor Pharaohs Clinic is that
05:51he runs that helps to run the caps.
05:53Five study.
05:54We are one of several national sites who
05:57is currently doing an active screening
05:58study to try and find out whether.
06:01Aggressive surveillance may help
06:02in it with early detection and
06:04potentially treatment for those
06:05at risk for pancreatic cancer,
06:07so those are the highlights.
06:09More to comment.
06:10Oh my goodness,
06:11how could I almost forget the gynecological
06:13cancer genetics and Prevention program?
06:15Oh, perhaps the most important
06:16of all of these, really,
06:18what this is,
06:19is we have partnered with the
06:21discovery to cure program,
06:22which really represents the clinical arm,
06:24so I know this program is near and dear
06:27to many of those folks in the audience.
06:30This program was.
06:31Is is led and in many ways was
06:33established by doctor Ratner.
06:35An she is joined by Joanna Daddario,
06:37who's fabulous they are stationed in New
06:39Haven and Doctor Masoud azodi provides
06:41care at Bridgeport Hospital as well.
06:43So folks with a strong family history,
06:45genetic predisposition to GY and cancers.
06:48So forgive me,
06:49I'm still mitted that and
06:51genetic counseling of course,
06:52is where it all begins.
06:54So truly it to be to to really
06:56understand your risk really,
06:58especially if you've got a strong
07:00family history or otherwise
07:01meeting with a genetic counselor.
07:03Understanding a risk learning
07:04if you hereditary syndrome is
07:06really the best place to start.
07:08And so with that I will hand it off
07:11to Amanda Ganzak and she can take it
07:14from here. Thank you.
07:16Alright, well thank you everyone
07:17for coming and joining us tonight.
07:19I hope we can piece out some a couple
07:22new information that you might not be
07:24aware of and I'm excited to kind of
07:27give us a little bit of background.
07:29The ABC's of HBO see.
07:31So I'm going to talk a little bit
07:33about an overview of hereditary
07:34breast and ovarian cancer as well as
07:37kind of take us through a timeline.
07:39You know, really,
07:40where did we start and where are
07:43we at this point in time? So.
07:49Alright, so I'm going to start by going
07:52over a little bit of the background.
07:54I'm not going to spend a whole lot of
07:58time on this, but when we look at what
08:01are the different causes for cancer,
08:03many people when they come to see
08:05Jeanette a genetic counselor like myself,
08:08are very surprised to learn that the majority
08:10of cancer 7075% of cancer is sporadic.
08:13It's just random.
08:14Alot of the factors that can
08:16contribute to a sporadic.
08:18Onset cancer can be numerous.
08:20It can include just the normal aging process,
08:23lifestyle factors like a smoking history,
08:26alcohol, diet can influence our risk.
08:28We can see environmental and
08:31occupational exposures can put us at
08:33risk for particular types of cancers,
08:36viruses, factors.
08:36We don't even know about and so for
08:39most people it's really a combination
08:42of all these different factors that can
08:45contribute to someone being diagnosed with
08:48cancer over the course of their lifetime.
08:51But what you don't see in that list
08:54or genetics are family history.
08:56So for most people they really don't
08:59need to see someone like myself to do
09:02genetic testing since most cancers is
09:05not falling into a hereditary category,
09:07there is about 5 to 10% of
09:10cancers that are hereditary,
09:12and this is really where we want to
09:15focus today on our conversation.
09:17And when we see cancers that are
09:20hereditary and fall in this genetic.
09:22Category we will see the individuals have
09:25a much greater risk to develop cancer.
09:27They are more likely to be diagnosed
09:30at younger ages.
09:31They can even develop more than
09:33one cancer through their lifetime.
09:35They might even develop rare cancers
09:38and their family members will have
09:40an increased risk for cancer,
09:42and so it's really important that
09:44we can identify those cancers and
09:46those individuals who fall in this
09:49hereditary category so that we
09:51can address each of these factors
09:53for them and their family members.
09:56So what do we look for when we're assessing
09:58someone's personal and family history?
10:00So we ask a lot of questions and
10:02I'm sure many of you if you've
10:04met with a genetic counselor have
10:06answered a lot of these questions
10:08about your family history,
10:09but some of the patterns are red
10:11flags that were looking for when we
10:13ask all these questions is looking at.
10:19I don't know, it just
10:21happened, sorry. Hold on.
10:29Let's see.
10:32Alright thank you alright so I'm looking
10:34to determine if the cancers are diagnosed
10:37at early ages, such as breast cancers
10:40diagnosed prior to the age of 50.
10:43Seeing if there's multiple relatives on
10:45the same side of the family with breast,
10:49ovarian, prostate, and pancreatic cancer.
10:51We can see rare cancers like
10:53triple negative breast cancers.
10:55In these families,
10:56ovarian cancer men with breast cancer.
11:00Some of these cancers can even be
11:02rather aggressive when we start to
11:04see prostate cancers that have spread
11:05to other parts of the body that can
11:08increase the likelihood or suspicion
11:09for an inherited risk for cancer.
11:12And if we see that there are
11:14individuals in a family that have
11:16developed more than one cancer,
11:18someone with bilateral breast
11:20cancer or breast and ovarian
11:22cancer as another red flag,
11:24and the last question that we
11:26will ask individuals if they have
11:28an Ashkenazy Jewish or Eastern
11:30European background as that also
11:32could increase our suspicion for
11:34hereditary breast and ovarian cancer.
11:38Now if we look in just 2020 and
11:40so you know how much of cancer is
11:44diagnosed just in this year alone,
11:47we will see that approximately 191
11:49thousand men will be diagnosed with
11:51prostate cancer and the number one
11:54cancer for women's breast cancer.
11:56With 267 thousand people.
11:58So if we estimate that about 10% of each
12:01of those categories will be hereditary,
12:04we will see that about 19 thousand
12:07of those prostate cancers in about
12:0927,000 of those breast cancer case.
12:12Cezar due to an inherited risk factor.
12:14Now imagine that times all the relatives
12:17that also would be at increased risk,
12:19so this has real and widespread impact,
12:22not just for those patients who
12:25are newly diagnosed but also for
12:27their relatives in their family.
12:30And So what really causes hereditary cancer?
12:32Well,
12:32it really just boils down to our genes
12:35and genes are in every cell of our body.
12:38They are our instruction manuals.
12:40They really help tell her body how to work,
12:42how to function.
12:43They help us,
12:44you know,
12:45tell us what color eyes were
12:47going to have and all of that.
12:49So they all have different roles.
12:51An are very important for us to be able to
12:54have jeans that are functioning properly.
12:56And where did they come from?
12:58They come from our parents.
13:00We inherit one copy of R gene from our mom
13:03and one copy of our genes from our dad.
13:06And so while some of our genes are
13:09responsible for things like our eye
13:12color or controlling our heartbeat,
13:14there are other jeans that are responsible
13:17for regulating for preventing cancer
13:19growth and development in our bodies.
13:22These shoes are really important for us.
13:24Ann,
13:25if one of these cancer prevention
13:27jeans has a defect in it,
13:29it can cause an increase risk to develop
13:33particular or specific types of cancer.
13:36And So what are genes and mutations in DNA?
13:39This is a lot of new language in words
13:42for a lot of people when they come
13:44to meet with a genetic counselor.
13:47So all of our genes are made up of
13:49DNA and it really is just the DNA is
13:52the spelling of our genes made up of
13:56particular letters that come in a very
13:58particular order or sequence that you
14:00can see here represented by the TS.
14:03The GS, the season, Hayes,
14:04and they're all strung together.
14:06To spell out that gene to make
14:09sure that it's working properly.
14:11But what happens when there
14:13is a change in that genetics,
14:16spelling or sequence of the gene you know?
14:19Here I'm going to use the example
14:22where this letters went from
14:24GTA highlighted in red here,
14:26and a mutation has taken place such that
14:29the letters have been changed to T.
14:33Hey. Ng now this is not what the genetic
14:37spelling was supposed to be for this gene.
14:40And by changing this by changing
14:42that spelling, this Mutation now
14:44stops the gene from working.
14:46And when we see these in
14:48these cancer prevention jeans,
14:50these mutations lead to increased
14:52risk for particular types of cancers.
14:55Now, when we specifically talk about
14:57hereditary breast and ovarian cancer,
14:59be RCA wanting,
15:00be RCA two or the jeans that are most
15:03commonly associated with hereditary
15:05breast and ovarian cancer families.
15:07When someone has a mutation within
15:09one of these two genes, however,
15:11they are not the only ones,
15:14so stay tuned Camille's.
15:15Going to touch on that at right
15:18after I'm done here,
15:19but when we look through time,
15:21BRC A1 and two are still the highest
15:24contributing hereditary factors.
15:25Her breast in ovarian cancer.
15:28When we look among the general population,
15:31we have seen about wanting 400 individuals.
15:34Will test positive for a mutation
15:37in BRC A1 or BRC A2.
15:40However,
15:40when we look in the Ashkenazi
15:42Jewish population,
15:43that number goes down to 140,
15:45so it's a much higher chance that
15:48we will find the RCA Mutation in
15:50someone who is Ashkenazi Jewish,
15:53especially if they have a personal
15:55end or family history of beer CAE,
15:57associated cancers.
15:58So that's why we ask the question when
16:02we are meeting with patients to see
16:04if that is an added factor that we
16:07should be considering our risk assessment.
16:09So when we look closely at BRC A1 and
16:13we talk about the risk for cancer,
16:16I want to be able to compare that with
16:19what we see in the general population.
16:22So the general population risk here
16:25in this figure is represented by
16:27the color blue and that app bar in
16:30Green is the risk associated with
16:32someone who has a BRC A1 Mutation.
16:35So women who have abca one mutation
16:38have as much as an 80% risk.
16:40But can range somewhere in the 60 to
16:4380% risk over their lifetime tend
16:45to be diagnosed with breast cancer
16:47compared to about the 12% risk
16:49we see in the general population.
16:52But in women with piercings,
16:54one mutations who have already
16:56had a breast cancer diagnosis.
16:57We also see that they have a higher
17:00chance to develop a second newly
17:02totally unrelated breast cancer,
17:04and that can happen either in
17:06the same or the opposite breast,
17:08wherever they might have remaining
17:10healthy breast tissue that risk
17:12what we have learned more recently
17:14as we continue to study these
17:16families and do genetic testing,
17:18that the risk to develop
17:20a second breast cancer is.
17:22Somewhere between the range of 20 to 40%
17:24risk, that risk can be very dependent
17:27on a woman's age in which she was
17:29diagnosed with her first breast cancer.
17:31So if she was very young when she was
17:34diagnosed with her first breast cancer,
17:36she would have the higher end of that
17:39range closer to 40% to be diagnosed
17:41with a second breast cancer versus
17:43someone who might have been in her 50s
17:45with her first breast cancer there.
17:47So there can be an influence of the
17:49age of onset of the first breast
17:52cancer in predicting the likelihood
17:54of a second breast cancer.
17:56Women with bare see one mutations also
17:59have a significantly elevated risk
18:01for ovarian cancer as much as a 50%
18:03lifetime risk compared to the one to
18:062% risk in the general population.
18:09Now, some of the other cancers
18:11we see in these families,
18:13and with PRC one mutations is a slightly
18:16elevated risk of male breast cancer for men.
18:19They also have a slightly
18:20increased risk of prostate cancer,
18:22particularly prostate cancers,
18:23that can be more aggressive
18:25or be more likely to spread.
18:27And, uh,
18:29possibly elevated risk of pancreatic cancer.
18:34Now when we go and look at
18:36the risk through be RCA two,
18:38you will see some slight differences
18:40between these rest based on these jeans.
18:42So in the RCA two women they will
18:46have as much as 50 to 7075% risk of
18:50being diagnosed with breast cancer
18:53and similarly increased risk to be
18:56diagnosed with a second breast cancer.
18:59Here with the ovarian cancer risk is
19:01where there's a little bit of difference
19:04between beer CA one and be RCA two,
19:06so women with a B or C A2 Mutation would have
19:10as much as a 30% risk of ovarian cancer,
19:13which is still significantly
19:15above the average rest.
19:16Men however have more risk if they have
19:19a B or C A2 Mutation with as much as
19:23of 5 to 8 or 10% likelihood of having
19:25male breast cancer as much as the 20% risk.
19:29Prostate cancer once again more
19:31aggressive in nature and as much as
19:34an 8% risk of pancreatic cancer,
19:36especially for those who have a
19:38family history of pancreatic cancer,
19:41compared to about the 1% risk we
19:44see in the general population.
19:47For both men and women we can also see
19:49a slightly increased risk of Melanoma,
19:51both of the skin as well as of the
19:54I called a uveal Melanoma which is
19:56very rare in the population. So.
20:01Why is this information so powerful?
20:03Why is it important to understand whether
20:06someone has a BRC A1 or BRC A2 Mutation?
20:08Well.
20:09For one,
20:09it can help us define the more
20:12accurate and personalized risk for
20:15an individual to develop cancer.
20:18It can give us the ability to increase
20:21our screening for these particular
20:23cancers with the goal to be able
20:26to identify cancer at an earlier,
20:28more treatable stage.
20:31There are some medications or
20:33what we call chemo prevention
20:35options that can help us
20:36reduce risk for cancer.
20:38Examples would be tamoxifen
20:39to reduce breast cancer risk,
20:41an oral birth control pills to help
20:44reduce the risk of ovarian cancer.
20:47But we also have other risk reducing
20:50strategies like surgery to help
20:52prevent or significantly reduce their
20:53risk in our high risk individuals
20:56and those types of examples would
20:58include removing the fallopian
21:00tubes in the ovaries to help
21:02reduce the risk of ovarian cancer.
21:04So stay tuned to next week 'cause this is
21:08definitely get covered in a lot more detail,
21:11and this is just sort of the highlights here.
21:15In the last several years, though,
21:18there have also been targeted treatments
21:20designed specifically for those who've been
21:23diagnosed with obc cancer like breast,
21:25ovarian or pancreatic cancer.
21:26So it's even opening options for the
21:29medical oncologists in terms of how to
21:32treat these cancers differently than
21:35they might an ovarian or pancreatic
21:37cancer in someone who has a sporadic onset.
21:41But it also allows us to more precisely
21:44identify who is at risk in their family.
21:47Individuals who have beer seeing
21:49mutations have a 50% chance
21:50to pass that mutation on an,
21:53so it's important that both the men
21:55and the women in the family are aware
21:58of the familial mutation so that they
22:01can go forward with genetic testing
22:03and just a common question that we
22:05always get is that Ken men inherit
22:08these mutations and the answer is yes.
22:11Both men and women having.
22:13Equal chance that 50% risk to inherit
22:16the Mutation That's in the family.
22:19So let's talk a little bit about
22:22the history and timeline of B.
22:24RC81 and two,
22:25and one has changed through the years,
22:28so in 1994 was when the BRC A1 Gene
22:30was first discovered and be RCA two
22:33is quickly thereafter it in 1995 and
22:36things discovered these jeans by really
22:39recruiting and studying families that
22:41had very significant family histories
22:43of pressed ovarian and other cancers.
22:45Young onset those families that
22:47were really sticking out to them.
22:50Yes,
22:50something's gotta be going on here and then.
22:52That's really what has led to so much
22:55work to be able to discover these jeans.
22:57And we think so many of the patients
23:00that have come before the patients
23:02that we see now to be able to have
23:04gathered all this information.
23:07And in 1996,
23:08myriad genetics where some of you
23:10on the call here today might have
23:13been tested through this laboratory.
23:16They had applied and started offering BRC
23:19A1 and B RC2 genetic testing commercially.
23:23An shortly thereafter they applied
23:25and were granted patents that were
23:28specific to localising these jeans.
23:30These those letters in sequence
23:32is that we talked about earlier,
23:35they patented.
23:36All of that information,
23:38and so they were the only laboratory
23:41that really were allowed to do.
23:43BRC A1 and B RCA 2 testing
23:45after that point in time.
23:47So they really monopolize the market
23:49and really we're the only option for
23:52us to be able to coordinate genetic
23:54testing for patients. For BRC, A1 and B,
23:57RCA 2 and it led to a very hefty price
24:02tag of over $4000 to do the test so.
24:06That changed on June 13th, 2013.
24:08the Supreme Court made a unanimous
24:11decision that Genomic sequences
24:13or genes cannot be patented.
24:15Their biology, they're there.
24:17We didn't do anything to create them.
24:20The already existed,
24:21and so no longer can be packed in these
24:25jeans or sequences and back on that day.
24:29When this all news came out,
24:31I took a screenshot of one
24:34of the laboratories that.
24:37Publicize this, your jeans have been freed.
24:39Message and it's an important one.
24:41I think in the history of beer
24:43see wanting to because it then
24:46allowed other laboratories to start
24:48offering BRC A1 and B RCA 2 testing.
24:51It also allowed them to start to
24:53bundle additional breast and ovarian
24:55cancer genes along with BRC A1 in two.
24:58When we do genetic testing which now
25:00as we talk about is what we would
25:03reference panel genetic testing as
25:05a test mean work frequently offer to
25:08patients coming through our program.
25:10But there are many more labs that
25:12now are available for us to be able
25:15to utilize and it really changed
25:18the landscape of genetic testing.
25:21And so when I look over the past
25:2320 years of genetic testing for
25:26BRC A1 and B RCA two,
25:28there was a lot of debate in the very
25:32beginning about who should we test for.
25:34BRC A1,
25:35NVR CK2 and the reason we debated this was
25:39because it was expensive to do the test.
25:42And we also know that most
25:44people with breast,
25:45ovarian and other cancers
25:47do not have a BRCA Mutation.
25:50So historically we really focused on
25:52who was most at risk to have a mutation
25:56instead of just testing everybody.
25:59And so really the decision as to
26:02who to ask was driven by the cause.
26:05And not so much the benefit.
26:07And so I want to take us through
26:10a little bit of how that impact
26:12has changed our current practice.
26:14So since this Supreme Court decision in 2013,
26:17and because there are more laboratories
26:19who are offering the RCA wanting to testing,
26:21it really has shaken up the market
26:23an allowed more competitive pricing
26:25for genetic testing,
26:26and that cost has really come
26:28down for a number of reasons.
26:30One of the reasons being that the
26:33technology to test these jeans has gotten.
26:35Better,
26:35faster,
26:36cheaper and still that cost has really
26:39gone down and many more patients can
26:41afford the cost of genetic testing
26:43if they have a potential out of
26:46pocket through their insurance.
26:48But patients also have the option
26:50to pay for testing out of pocket
26:52for as little as $250 compared
26:55to that over $4000 price tag.
26:57So I think now when you look at how
27:00these things balance against each other,
27:02you can see that we probably have more.
27:06Benefit to do testing since
27:08the cost has gotten so
27:10much cheaper an it really I
27:12think allows more people to do
27:15genetic testing than ever before.
27:17And so I wanna you know,
27:19thank you for sticking through all
27:22of this so far, but sort of some
27:25of the takeaways of my talk here.
27:27Is that only about 5 to 10% of cancers
27:31fall into a hereditary susceptibility
27:33category due to an inherited mutations.
27:35BRC, A1 and two remain the most common
27:39hereditary cause of breast, ovarian,
27:41prostate and pancreatic cancer.
27:43Genetic testing is available.
27:44It's most often covered by insurance,
27:46especially in those two have a very
27:48strong personal and family history,
27:50but costs are much more affordable
27:52in the in years past,
27:54so even have the option to pay out
27:56of pocket for those who are still
27:59interested in pursuing genetic testing.
28:00And if you or someone you know
28:03would benefit from our services,
28:04I'm including our phone number here,
28:06so please give us a call and do not
28:09hesitate to get this information
28:11out to anybody that you might
28:13know who would benefit.
28:14From its thank you,
28:16I'm going to transition now to Camille.
28:20She's one of our genetic counselors
28:24and she's going to segue us over.
28:28To you know,
28:29these additional genes that we
28:30see associated with hereditary
28:32breast and ovarian cancer.
28:37OK hi, so my name is Camille Ann.
28:41Thank you for being here tonight.
28:44The name of my talk today so I
28:48just need to take control of the.
28:52Erica perfect there with my talk today. Who?
29:02Once.
29:05Where can I run through
29:09Amanda's presentation quickly?
29:28Perfect, so my talk today is other
29:31hereditary breast and ovarian
29:33cancer genes and their implications.
29:36So I may be using HBO.
29:39See throughout the talk so it does tend
29:42for hereditary graph in the Bering cancer.
29:45So as previously reviewed by Amanda at
29:48the majority of cancers are for attic
29:51and only 10% of cancers are hereditary
29:54in advances in the field of genetic has
29:57led to the discovery of the PRC one.
30:00CRT two genes, but also several other genes
30:04that increase the risk for hereditary
30:08breast variant and related cancers.
30:11So Amanda already covered
30:12the PRC 1B R C2 jeans,
30:15and I will cover most of the
30:18other jeans during my talk.
30:20Um?
30:21I just wanted to discuss a different
30:24risk level associated with different
30:27genes and we have three categories.
30:32The high risk, moderate risk,
30:34an unknown risk in high risk genes
30:40are considered.
30:41Is the lifetime risk of developing cancer
30:44is more than 40% versus moderate risk?
30:48Genes would be the lifetime risk
30:50of cancer is between 20 to 43%
30:53and then for the unknown risk.
30:56Their jeans that have been discovered
30:59more recently and the data that is
31:02available for these games might be limited.
31:08So we can find general general
31:11recommendation through each categories.
31:13If we think of the high risk genes.
31:18The medical management may include
31:20starting cancer screening and an earlier
31:24age increase the screening frequency.
31:26We may recommend or consider
31:29surgical intervention and as Amanda
31:32mentioned earlier chemoprevention
31:34or medication to try to prevent.
31:37Chancer as much as possible for the moderate,
31:41risking those recommendation may still apply,
31:44but it's more of a jeans jeans basis
31:48and we may want to consider the family
31:52history for the specific medical
31:55management for those moderate risk gene.
31:58And we will talk more about
32:02it throughout the talk.
32:04For the newly discovered gene,
32:07we tried to base medical management
32:10on the family history until more data
32:14becomes available through the through,
32:17the newly discovered gene.
32:21Ann
32:35OK, so as you can see,
32:37there are many genes associated
32:40with hereditary breast into an.
32:42I'm mostly gonna focus on Selby
32:45to check to an ATM for today an.
32:49If we start with the pal B2 gene
32:52woman with a fabric termination
32:55haven't increased lifetime risk of
32:58developing breast cancer in this
33:01risk is estimated between 30 to 58%
33:04and some data suggests that there
33:06could be a possible increase risk
33:09for a second primary breast cancer
33:12in possibly male breast cancer also,
33:15but more research is needed to describe the.
33:19To clarify those specific list,
33:22there is also an associated increased
33:25risk for pancreatic cancer.
33:27For the pal V2 jeans,
33:29and there are some data that suggests
33:32additional risk or other cancers,
33:35including the ovarian cancer
33:36in the prostate cancer,
33:38but we're missing a lot of data
33:41before we can say whether there is
33:45an increased risk for these cancers.
33:48An actually changed the management.
33:51For these cancers, so as of right now,
33:54it's more.
33:56It is a possibility,
33:58but we wouldn't change any management
34:01for these variant in prostate cancer.
34:04So the focus for the management for
34:08the breast cancer woman with the
34:11power between station or recommended
34:13to have an annual breast MRI and
34:17mammogram starting at the age
34:19of 13 and in more recently they
34:22also added the recommendation or
34:25the consideration of bilateral.
34:28Masectomy,
34:28which before it was there,
34:32was not enough data to.
34:37Should consider the bilateral
34:39mastectomy service help you to mutation?
34:43There is also the possibility to
34:46consider pancreatic cancer screening,
34:48but we will talk more about the
34:51pancreatic cancer in why the family
34:54history does play a role in determining
34:58whether someone they want to consider.
35:01Then pancreatic cancer screening.
35:04For the ATM gene.
35:08The the ATM is considered in moderate
35:11risk gene because the lifetime
35:13risk of breast cancer is estimated
35:16between 25 to 30% and there is a
35:20specific mutation that is known to.
35:24Have a higher risk for graphs camp June.
35:27Come in with the ATM gene,
35:30just like the probably 2 gene.
35:33There is also a known increase
35:36risk for pancreatic cancer, again,
35:38especially if there is a family
35:42history of pancreatic cancer.
35:44Same as the pelvic Eugene.
35:47There may be other cancers associated
35:50with imitation in the ATM gene,
35:53again, ovarian and prostate cancer.
35:55Again,
35:56we need more research to actually
35:59determine whether there is an increased
36:02risk for these these cancers,
36:04so very similar to management.
36:08Women who have limitation in the
36:10power to Jane for the ATM with
36:13difference is the age at which
36:15we recommend to start the annual
36:17breast MRI and the mammogram.
36:20So the average of 40 instead of 30.
36:24As we can see,
36:27there is increase,
36:28certainly insufficient evidence to support
36:32or preventive bilateral mastectomy
36:34for individuals with ATM mutation.
36:37Again,
36:38because of the increase risk
36:41for pancreatic cancer,
36:42depending on the family history,
36:45some patiently want to consider
36:48patriotic cancer screening.
36:52So for pancreatic cancer,
36:54screening the recommendations or not
36:56as well established as other tensors,
36:59if we can suppress cancer screening
37:02or colon cancer screening.
37:04But what we know so far is that early
37:07diagnosis is still the most important
37:10way to improve overall survival
37:13by detecting pancreatic cancer at
37:16an earlier and treatable stage.
37:18Current research focus on individuals at
37:21increased risk based on the family history.
37:24Open traffic answer based on education.
37:27Maybe both of them,
37:28depending on which which gene
37:30the Mutation is found in an.
37:33I will give some examples.
37:36In the surveillance for these
37:38individuals is recommended to
37:40start not before the age of 50
37:43or 10 years before the youngest
37:46relative with things that cancer.
37:49We briefly discussed all the CAT5 study
37:53that is available at Yale with Doctor
37:57Ferrell in the pancreatic cancer clinic,
38:01but really,
38:02surveillance is recommended for
38:05selected individuals were at high
38:09risk and who may benefit from early
38:13detection of pancreatic cancer.
38:16So because it's still at the clinical
38:19research level that benefits the
38:21risk and the cost of surveillance
38:24of pancreatic cancer definitely
38:26mean more additional evaluation.
38:31The the cancer. Thank you.
38:33I think you're screening or
38:35top five this study there.
38:37They have very specific criteria
38:39and when I know whether patients
38:42when someone has a mutation in
38:44one of the genes listed here,
38:47we may briefly mention the option
38:49of pancreatic cancer screening,
38:51but I want to point out that the
38:54specific criteria to actually
38:56be eligible for the caps.
38:585 so the only the only jeans listed here.
39:02That there is a recommendation of
39:06starting this screening regardless of
39:09family history is the STK 11 mutation
39:13associated with Proteger syndrome.
39:16Which we have been covered,
39:18yet all the other jeans V RCA2BR
39:21C A1 Palb two ATM that we've
39:24talked about in some of the Lynch
39:27syndrome genes that we we will talk
39:30about having a mutation may not be
39:33enough to be eligible for capsize,
39:35and it's always good to meet with
39:38someone to discuss the benefits
39:40and limitation of the same static
39:43cancer screening.
39:44But to actually participate in.
39:46Capsize more.
39:50It's it's not everyone who may be eligible,
39:53so sometimes even if there is no
39:55mutation that has been identified
39:57in the family,
39:58but there is a strong family history.
40:00Thank you, had cancer and multiple relatives.
40:04Individuals may also be eligible or
40:07if there is hereditary pancreatitis
40:10or chronic pancreatitis.
40:12Is it also criteria?
40:17For the moving on to the check 2 gene,
40:21just like the ATM gene,
40:24check two is considered and
40:26moderate risk gene with a lifetime
40:29risk for breast cancer estimated
40:32between 20 to 44% an there is.
40:35Most of the studies are so far has been
40:40done with the Pacific 1100 LC Mutation in we,
40:45so all the data, most of the data
40:48that we have is really based on this
40:52common mutation in the check 2 gene,
40:55but there are other common mutation
40:58that check to genes including
41:00the I-150 Seventy in the S4428X.
41:05Are thought to only causes slightly
41:07higher restaura breast cancers
41:09compared to the general population,
41:12and so with someone who has a
41:15mutation in the check 2 gene.
41:19Again, there may be an increase risk
41:22for other cancers than breast cancer,
41:24including colon cancer and Melanoma,
41:26prostate cancer, and Mel breast cancer,
41:29but more research is needed.
41:31The management, as you can see,
41:34is very similar to the other
41:36moderate risk team ATM.
41:41Is include starting a breast MRI
41:43and mammogram at the age of 40 and
41:46again there is insufficient evidence
41:47to support preventative bilateral
41:49mastectomy because of that slightly
41:52increased risk for colon cancer,
41:54it is recommended to start an
41:57earlier age for the colonoscopies so
41:59I'd be age of 40 versus 50 in the
42:03general population or around the
42:05age of 50 and not to exceed five
42:08years between each colonoscopies.
42:13I do wanna talk about those moderate
42:17risk genes for ATM check to an
42:20many other moderate or unknown.
42:23Unknown with gene they.
42:28Breast cancers and families who have
42:30a mutation in the moderate risk gene
42:32may be influenced by the number of
42:35family members with breast cancers,
42:38and it may risk of breast cancer may
42:40be higher in families that there is a
42:43strong family history of breast cancer, so.
42:47It may be due to other modifier genes
42:50or shared environmental risk factors,
42:54but we need additional studies to
42:57fully understand how some families
42:59with an ATM or check to Mutation
43:02has a very strong history of very
43:05strong family history of breast
43:08cancers and other families where
43:10we don't see any breast cancers.
43:13So when we meet with patients
43:16who are tested for this.
43:18Chameleon Mutation,
43:19one of the one of these jeans and
43:22they they their results are negative
43:25or their their true negative for
43:27the familial mutation we we like
43:29to still screen them based on the
43:32family history because that mutation
43:34may not explain the full history of
43:37the breath sensors in the family.
43:39So if there is a strong family history,
43:42even if someone tests negative
43:44for an ATM or check two mutation,
43:47we may still want to squeeze
43:49them more closely because there.
43:51Breast cancer risk may still
43:54be significantly higher than.
43:56The general population.
44:01Here's a list of other breast cancer genes,
44:04but I'm not gonna talk in great detail.
44:08I listed some of the cancer risk
44:11associated with these jeans.
44:13There are newer jeans newly discovered
44:15at the bottom here of this slide,
44:18and if you need any additional
44:21information for any of these jeans,
44:23please feel free to contact our
44:26clinic and we will be happy to
44:29review more information with you.
44:31But given the time limit
44:34for this presentation,
44:35I just wanted to pick one of
44:38the more common mutation.
44:42For the bearing hereditary ovarian cancers,
44:45again, there are many genes that,
44:48if there isn't, which is why we've used to
44:51greatly increase the risk for ovarian cancer.
44:55BRC 1B R C2, covered by reviewed by Amanda,
44:59Explain. A part of those are
45:03hereditary ovarian cancer,
45:05but I wanted to like we discussed these
45:08newer jeans or other genes, part of a
45:13different hereditary cancer syndrome.
45:15If we think of the grip one that reads
45:19that you want to see in this ad 51 G jeans,
45:23they've only been clinically available
45:25pretty recently, so we need again.
45:28I feel like it's a regular occurrence theme.
45:31We need more research,
45:33more data to better understand the risks
45:36for these jeans and ultimately adjusting
45:38management based on the available data.
45:41But free porn and read 51 C.
45:44The risk of.
45:45Ovarian cancer is close to an up to
45:499% and then read 61 D up to about 12%,
45:53and this is compared to the general
45:56population risk for ovarian
45:58cancer of about 1 to 2%,
46:00so increased,
46:01maybe not as high as the BRC 1B RC two,
46:05but still significant increase.
46:08There are some data.
46:11Just increase risk for breast cancer,
46:14especially triple negative breast cancer
46:16when there is a notation in these jeans,
46:19but we don't have enough data to actually
46:22change the management recommendation
46:23for breast cancer screening.
46:26For these three ovarian cancer genes and
46:29based on the data that we have right now,
46:32there doesn't seem like there
46:34is an increased risk from them.
46:37But for the management,
46:38it is recommended to have a bilateral
46:41salpingo, oophorectomy or VSO.
46:43Between the age of 45 to 50,
46:47of course,
46:47all these ages are dependent on
46:50the family history.
46:51It could be a earlier age if the first
46:55they wanna get relative with varying
46:58tensor had cancer before before this age.
47:01So we it is recommended to
47:05have the VSO around 45 to 50.
47:08In the for the,
47:10some individuals may want to do
47:13screening for the ovarian cancer
47:15and this is with a trans.
47:19Vaginal ultrasound CA 125 blood
47:21markers and physical exam every year.
47:24Although the effectiveness of
47:27the screening strategies in early
47:29detection is limited.
47:31Limited, as Amanda discussed earlier,
47:33some individuals may want to
47:36consider the use of.
47:38Oral contraceptives, oral contraceptives.
47:41To decrease the maximum risk
47:44for ovarian cancer overtime.
47:50For Lynch syndrome, so many visuals made.
47:55Create Lynch syndrome with an increase
47:58risk for Colon and uterine cancer mostly,
48:01but there is also an increased risk for
48:04ovarian cancer between Jade between 4 to 20%,
48:07depending on which gene the Mutation is
48:10found in in the list of genes associated
48:14with Lynch syndrome is listed here.
48:17But there are also an increased risk for
48:21other cancers listed here for lunch then gym.
48:24I want to focus on the
48:27ovarian cancer management,
48:29which is the same as the jeans that we
48:33just talked about with the RC1V RCA to
48:37the management would be would be very
48:40similar except that we may also if
48:44we remove the ovaries and folk into.
48:48You may also want to remove the uterus
48:51given the high uterine cancer risk,
48:55but in addition to this recommendation
48:57there many other screening for colon
49:00cancer with very frequent colonoscopies.
49:03An Upper Endoscopies for the upper
49:06GI cancer risk,
49:08and just an annual physical
49:10exam and dermatology exam.
49:12Given other cancer risk.
49:16So in conclusions,
49:17some of these jeans have been
49:20studied for much longer than others.
49:23In as we gather more data,
49:25their cancer risk,
49:26we may get a better understanding on
49:30the counter risk and we may be able
49:32to change the recommendation for the
49:35recommendation may change overtime
49:37and for this reason it's really
49:40important to stay in touch with their
49:43program in the future to ensure that
49:46your personal cancer screening plan.
49:49Is best for you.
49:51Then thank you and I will
49:55present Elizabeth Dub Dub,
49:57where no one of the generic.
50:00Counselors in the smile center
50:02genetics and Prevention Program.
50:04Who will be.
50:07Talking about the next,
50:08the next communication there we go.
50:11OK,
50:11so everyone my
50:12name is Liz for short, Elizabeth.
50:15For long I'm going to be talking
50:17about approaching the conversation or
50:20just different strategies for sharing
50:22your positive genetic test results.
50:24If you did test positive for
50:26mutation with your family members,
50:28so give me a second here.
50:33OK, so why is it important in
50:35the 1st place to share genetic
50:37test results with relatives?
50:38Well, we know in most cases that parents,
50:41brothers, sisters and children of
50:43the person who was found to have
50:45the mutation have a 50% or 1/2
50:47chance to have the same mutation.
50:49And we also know that other family
50:51members on both sides of the family
50:54are at risk to have that Mutation.
50:56And of course that's true unless
50:58we've already identified where the
51:00Mutation has come from in the family.
51:02So if we already knew that it came from the.
51:05Maternal side of the family.
51:07Of course we don't think of the
51:09paternal side of the family is at risk.
51:12Another thing to keep in mind is
51:14that it's important to have the
51:15conversation with relatives about
51:17positive genetic test results,
51:18even if other family members have
51:20known about the mutation in the
51:22family for awhile and it's really
51:24important also to assume that
51:26relatives do not want to know.
51:28Remember that you're never actually
51:29forcing a relative to do anything
51:31by sharing your results with them.
51:33It's really just something
51:34that empowers them.
51:35To make their own decisions and ultimately
51:38the decision to actually move forward
51:41with genetic counseling and testing
51:43for the mutation is up to that relative.
51:46So who is responsible for sharing
51:48the results with relatives?
51:50This question comes up very frequently
51:52and it's generally accepted that
51:54the person who is being tested has
51:56a responsibility to share those
51:58results with other family members.
52:00The health care provider who is
52:02receiving the test results like the
52:04genetic counselor or the physician,
52:06is not going to be the one to
52:09reach out to family members,
52:11but they might play a key role in helping
52:14to facilitate that results disclosure,
52:16for example.
52:17So some clinics like.
52:18Cars have consent forms that patients
52:20can fill out and that will allow family
52:23members to receive genetic test results
52:25if they reach out to the clinic.
52:27So,
52:28for example,
52:28of the patient actually wrote down
52:30those family members on that consent form,
52:33giving them that opportunity to
52:34reach out to the clinic.
52:36Genetic counselors in particular
52:37can help patients come up with
52:39strategies for sharing genetic
52:40test results with family members.
52:42You know, just like we're talking about now,
52:45but for their specific situation as well,
52:47especially if they're finding this
52:49really to be a more difficult task.
52:52Another thing that genetic counselors can
52:54help to do that we do quite often, I think,
52:57is helped to create a family letter.
52:59So that would explain the mutation
53:01that was found in the family,
53:03how family members can access genetic
53:05services in order to see if they also
53:07carry that Mutation and just have
53:09some more general information that you
53:11know having it all written down for family
53:13members and creating that family member
53:15family letter can be really helpful.
53:17An in general, genetic counselors can be
53:19helpful in many different ways to patients.
53:22Are struggling in this area or looking for
53:26strategies for their specific situation.
53:29So how will my family members
53:32feel about my test results?
53:34Another really common question.
53:36It's normal for family members to display
53:39a range of very challenging reactions when
53:42they are confronted with the news of a
53:45positive genetic test result in the family.
53:48So it's important just to understand that
53:50negative reactions are really common,
53:53so negative reactions like anger,
53:55frustration, sadness,
53:56even disinterest are also typically
53:58not directed at you personally.
54:00That's another really important thing.
54:02To understand is that this is something
54:04that that the person is probably
54:06just thinking about this all at once,
54:09and even though these negative
54:10feelings might come out to you,
54:12it's not usually directed at you.
54:14So, for example,
54:15someone might feel angered by just the
54:17disruptiveness that this information
54:19can have on their life and on their
54:22thoughts and maybe what they had planned
54:24for that week and how you know they're
54:26going to be thinking about this now.
54:28Others might feel anxious or alarmed
54:30by just knowing about the cancer risks
54:33that are associated with the mutation.
54:35And thinking about how their medical care
54:37could change if the Mutation were identified.
54:40Some people might just be worried
54:42about the risk to their children.
54:44Some family members might just be
54:46overwhelmed by the information or just
54:48kind of confused about these different
54:50topics related to genetic inheritance.
54:52Some of these things people really have
54:55not thought about until they've been
54:57kind of forced to think about it when
55:00they hear this news from a family member,
55:03a patient might feel guilty,
55:04for example, if their apparent.
55:06And and they might know that they
55:08could have passed on a mutation
55:10to their son or daughter,
55:12and so maybe sharing that information with a
55:14family member can make them think about that.
55:17For example, a sibling could feel guilty
55:19if they test negative for the Mutation.
55:21That's that's a different type of thing.
55:23But a sibling could feel
55:25guilty if they test negative.
55:26That's something that we call
55:29survivor guilt in genetics.
55:30Your hand,
55:31some relatives might even use
55:33this information more positively
55:34and might display some positive
55:36types of responses or feelings,
55:38so some might feel empowered to use this
55:40information to address their cancer risk.
55:43Some might feel thankful for having
55:45learned this information and hopeful that
55:47they may be able to do something about
55:50the cancer risk and still some relatives
55:52might be dismissive of the information,
55:54or they might not seem to care up first,
55:57or just might not show any emotion at all,
56:00which can be frustrating.
56:02For you,
56:03as the person who's told
56:04this information to them,
56:06they could be passive.
56:07They can be in different.
56:09It's also important to know that family.
56:12Members reactions to this information
56:14are really likely to change overtime too,
56:16so someone who had a very
56:18negative reaction at first.
56:19Maybe there were very overwhelmed and angry.
56:21They might sit with that information
56:23and end up feeling grateful for
56:25learning this information or
56:26encouraged to use this information
56:28to take charge of their health care.
56:30And I think that's a lot of times
56:32are really common response or change
56:34of feelings during this whole thing.
56:36Other family members may be in
56:38different in the beginning or say
56:40they don't want to talk about it,
56:41but they might.
56:42Eventually come around you with
56:44questions and feel more open to
56:46that conversation and overall it's
56:48just important to be aware that
56:50these reactions are normal.
56:51An expected really of anybody
56:53that you're going to be sharing
56:56these results within your family.
56:58So when you're preparing to
57:00discuss these results,
57:01it's important to realize that you,
57:03being fearful or anxious about
57:04having this conversation,
57:05is completely normal as well.
57:07So just like we're talking about
57:09on the previous slide,
57:10it's important to prepare for the
57:13possible negative reactions from
57:14the relative that you're going
57:16to be speaking with.
57:17It's important to be aware that OK,
57:19I'm feeling nervous right now
57:21about talking this relative,
57:22and that's also a very normal thing.
57:25It's also important just to be aware
57:27of where those negative feelings that.
57:29Relatives have, or you know,
57:31those responses,
57:31that they might have that are
57:33sort of challenging.
57:34It's important to be aware of
57:36where those things come from,
57:37just like the examples that we
57:39talked about on the last slide,
57:41and it can be helpful to try to
57:43imagine how you might feel if you were
57:45confronted with this type of information.
57:47So if you were that receiving family member
57:49learning about the mutation in the family,
57:51what do you think your response
57:53would be as a member of the family,
57:56and more importantly,
57:56what would you want from your
57:58relative in that?
57:59Situation,
57:59so doing some of the things that
58:02you would want your relative to do
58:04to support you in that situation
58:05will likely be helpful for you
58:07to try and to do sort of in the
58:10same way for your relative.
58:11So maybe you're someone,
58:13for example,
58:13that really feels like they need
58:15to take some time and sit and think
58:17and read through something before
58:19having a conversation about it,
58:20maybe giving your relative some space,
58:22allowing them to take some time to
58:24do that before talking with them
58:26more about it could be helpful after
58:28you initially give them that information.
58:30And keep in mind that what family
58:32members decide to do with this
58:34information is their choice.
58:35So as we said previously,
58:37the decision to share the
58:38information with them.
58:39Ultimately, no matter how they feel about it.
58:42What you're doing is empowering
58:44them to make their own choice.
58:47So sharing results with a
58:48stranger distant relatives.
58:49So if you're a strange for many
58:51of your relatives, or if you feel
58:53like any of your relationships with
58:55some family members or awkward,
58:57or just not as close as you really
58:59would have liked them to be to have
59:02a conversation like this with them,
59:04there are many things that you can do to
59:06make sure that they have the information.
59:08So first you might consider enlisting
59:10the help of what we call a linking
59:13or a connector family member.
59:14So basically someone that you feel
59:16closer to than that family member.
59:18That you want to talk to who may
59:20also be closer to that relative,
59:22so this could be a linking family member.
59:25More literally,
59:26in your actual family structure.
59:27So maybe you have no idea how you would go
59:30about reaching out to an uncles Cousins.
59:321st Cousins once removed.
59:34Second cousins,
59:34basically more distant relatives
59:36that you're just kind of overwhelmed
59:38by trying to reach out to them.
59:39You know that they are at risk,
59:42but you're just.
59:42There's just too many to try
59:44to reach out to them,
59:46so you might consider reaching
59:47out to your aunts, uncles,
59:49and Cousins that you feel closer to.
59:51Who might be closer to those individuals,
59:53or know them a little bit better
59:56than you do to help them,
59:58or to help you to, you know, try to.
01:00:00Talk to them and reach out to them
01:00:02and that linking family member might
01:00:04also be a family member that's
01:00:06linking in terms of a relationship,
01:00:08so not necessarily the structure of
01:00:09your family like it's someone that's
01:00:11distant because there are far relative,
01:00:13but it could even be someone like
01:00:15your brother that you just don't
01:00:16know how to talk to,
01:00:18so maybe you're not close with
01:00:19your brother or you haven't talked
01:00:21to him in many years,
01:00:22but you know that both of you are
01:00:24actually really close with the cousins.
01:00:26So maybe your cousin could help
01:00:28you relay that information to him.
01:00:29Another thing to consider kind
01:00:31of going off of that.
01:00:32Is that you might consider just using
01:00:34different types of communication and
01:00:36what you would feel most comfortable with.
01:00:38So a family letter like we talked
01:00:40about previously is something
01:00:42that involves less contact.
01:00:43You can even make it anonymous.
01:00:45You can explain that someone in the
01:00:47family has been identified to carry
01:00:49a mutation and this is what it means
01:00:52for the cancer risks in the family.
01:00:54And this is how you can go about
01:00:56seeking genetic counseling and
01:00:58genetic testing for that mutation.
01:00:59An email might also be more
01:01:02comfortable for some people.
01:01:03And if you would feel more
01:01:05comfortable having more contact,
01:01:06so maybe that's not something that
01:01:08you would feel comfortable with,
01:01:09just kind of having less contact.
01:01:11Maybe you would like to have more contact.
01:01:14You could consider a phone call or you
01:01:17could consider planning to meet face to face.
01:01:19Another really important thing to
01:01:21keep in mind is that depending on
01:01:23your family dynamics,
01:01:24it can be wise to avoid holiday celebrations
01:01:26and family reunions if at all possible.
01:01:29So some people will say Oh,
01:01:30you know it's perfect timing.
01:01:32I have this family holiday coming up
01:01:34and that's not actually the best time.
01:01:36A lot of times to share this information.
01:01:39So remember, like we talked about
01:01:41that negative reactions from family
01:01:42members should be expected so.
01:01:44You may not want to share this information
01:01:46with someone at an event like those,
01:01:48because it could really intensify any
01:01:50negative reactions that they would have had.
01:01:52So, for example,
01:01:53if you're at a family party,
01:01:54maybe people have been having a lot of fun
01:01:57doing things like drinking or something.
01:01:59It might not be the best time to
01:02:01bring up this emotional topic,
01:02:02and instead of using this event as
01:02:04a time to talk about the results,
01:02:06it might actually be an appropriate
01:02:08time to let them know that you would
01:02:10like to call them or meet up some other
01:02:13time to talk about something important.
01:02:15So use it.
01:02:16Kind of a stepping stone rather
01:02:18than as you know,
01:02:19the chance to talk about that with them.
01:02:21And Lastly,
01:02:22if you have family members who have
01:02:24intellectual or mental differences,
01:02:25don't try to go about this alone and
01:02:27sharing those results with them.
01:02:29It's really helpful to involve other
01:02:31family members or their care providers
01:02:32when you're planning how you're going
01:02:34to share that information with that relative.
01:02:36That can be really helpful.
01:02:40So sharing results with your children.
01:02:42So when thinking about sharing
01:02:43results with children,
01:02:44an important piece of advice
01:02:46for children of any age,
01:02:47even adults,
01:02:48is just to answer questions truthfully.
01:02:50Another important consideration
01:02:51is to think about the age of your
01:02:54child and how much you would really
01:02:56want to dive into genetics concept.
01:02:58So for example, for a young child,
01:03:00maybe five years old,
01:03:02they're just starting to learn
01:03:03about their body.
01:03:04You might consider incorporating
01:03:06this information and explaining
01:03:07our bodies are made of books,
01:03:09cells that carry our genetic information,
01:03:11and this determines what we look like,
01:03:13how we grow.
01:03:14And as your child gets older,
01:03:16you can talk more openly about
01:03:18the family history of cancer.
01:03:20It might be easier than a later
01:03:22time to talk about this gene
01:03:24mutation that's in the family.
01:03:25That increases the risk for cancer
01:03:27and then thinking about an older
01:03:29child like a tween or a teenager.
01:03:31It's always a good idea,
01:03:33just not to underestimate what
01:03:35they might be learning about genes
01:03:36and cancer from the Internet,
01:03:38school friends,
01:03:39other family members that you
01:03:40might not be aware of.
01:03:42Them may have already mentioned
01:03:44something about this to them.
01:03:46And then being honest with them is important.
01:03:49You can reassure them by explaining what
01:03:51you're doing to keep yourself healthy.
01:03:53Maybe share your experience of going
01:03:55through genetic testing in a way that
01:03:57feels right for you and your child.
01:03:59And depending on your child's age and
01:04:02their questions, you can connect
01:04:03them with a genetic counselor that
01:04:05can always be extremely helpful.
01:04:07So a genetic counselor can assist
01:04:09with determining the timing of
01:04:10testing and can help to navigate
01:04:12feelings surrounding testing.
01:04:13And even if your son or daughter isn't of.
01:04:16Age, or even if they are,
01:04:18but they're not ready to actually
01:04:20go through genetic testing.
01:04:21Meeting with a genetic counselor can help
01:04:24mentally prepare them for this in the future.
01:04:27Another question,
01:04:28we get quite a bit from women with
01:04:30gene mutations that cause hereditary
01:04:31breast and ovarian cancer is whether or
01:04:33not to share this with male relatives.
01:04:36So Amanda hit on this quite a bit already
01:04:38and the answer to this is of course yes,
01:04:41absolutely many genes you know,
01:04:43like we were just talking about,
01:04:44we kind of went through this already,
01:04:46but it's important to keep in mind that
01:04:48many genes that are associated with
01:04:50hereditary breast and ovarian cancer also
01:04:52cause increase risk for certain cancers.
01:04:54In men like male breast cancer,
01:04:56prostate cancer,
01:04:57pancreatic cancer, and.
01:04:58Others, and those results do often
01:04:59impact a man's Healthcare Management,
01:05:01which we kind of heard more about.
01:05:04So, for example,
01:05:05prostate cancer screening becomes a lot more
01:05:08important for men who have a BRCA Mutation.
01:05:10Another important thing to keep in mind is
01:05:13the relatives of that male relative, right?
01:05:15So he if he has daughters,
01:05:17for example,
01:05:18those are female relatives as well,
01:05:20that would be at risk.
01:05:22So in general,
01:05:23you know sharing these results with all of
01:05:26your family members is helpful equally.
01:05:28So hopefully that helps to clarify
01:05:30why it's important to share those
01:05:33results equally in the family.
01:05:34So thank you all for attending
01:05:36this talk and an for this event.
01:05:39I hope that this specific talk
01:05:41help clarify some questions or
01:05:42concerns that you have had about
01:05:44sharing results with your relatives.
01:05:55OK, looks like it's the question and
01:05:57answer portion of our session tonight.
01:06:00Thank you everybody for those great talks.
01:06:03That was excellent and insurance
01:06:05speaking more than myself.
01:06:07When I say that the time, the past,
01:06:10hour and a half just flew by.
01:06:14Let me see if there are any questions that
01:06:18we can answer from our audience here.
01:06:22So someone had asked about what is involved,
01:06:25and pancreatic cancer screening.
01:06:26And since I'm not a panelist tonight,
01:06:29I'll let you guys that tackle the current
01:06:31status of pancreatic cancer screening.
01:06:33Not as black and white in
01:06:35something as breast cancer,
01:06:37but with any one like to address that.
01:06:41No. I can briefly address it,
01:06:45but I can't remember what is the
01:06:48date exactly for Doctor Ferrell
01:06:50talk on pancreatic cancer screening.
01:06:53Anyone has the schedule in front of them?
01:06:56He will definitely go in much
01:06:59more detail about it,
01:07:00but pancreatic cancer screening would
01:07:03be some type of imaging and then most of
01:07:07the time it would be either just an MRI.
01:07:10It can be endoscopy in there,
01:07:13they may start looking for early
01:07:15pancreatic cancer markers also,
01:07:17but he will talk more about it.
01:07:20Is it a cover? 6?
01:07:22Is that right?
01:07:27Perfect so I would definitely
01:07:29attend the his talk and he will
01:07:32go in much more detail about what
01:07:35the results are of the clinical
01:07:38child so far and what what,
01:07:40what the recommendations are.
01:07:49OK, would someone be able to talk
01:07:51about the timeline and process
01:07:53for genetic counseling and
01:07:55testing so from start to finish?
01:07:57What is that process look like?
01:07:59How long does it normally take,
01:08:02etc. Alright,
01:08:03I can take this question
01:08:05for the group if that's OK.
01:08:07So typically once an appointment is made
01:08:10and were visiting with the patient,
01:08:12an collecting information about
01:08:14their personal and family history.
01:08:15Typically we get results
01:08:17back from genetic testing.
01:08:18If we're doing a full panel of genes
01:08:21that can take as much as three weeks,
01:08:24sometimes a little bit sooner
01:08:26if we're looking for or testing
01:08:28just specifically for a known
01:08:30mutation within someone's family.
01:08:31Those results are usually.
01:08:33Back on average in one to two weeks.
01:08:36So sort of from start to finish.
01:08:39We are talking less than a month
01:08:41to meet with a genetic counselor
01:08:43after the appointments made to
01:08:46coordinate the genetic testing
01:08:47which were able to do in person.
01:08:50We typically are collecting a blood
01:08:52sample when we're doing our Tele
01:08:55health or virtual appointments
01:08:56were using saliva based testing
01:08:59to collect the sample for the
01:09:01test which then gets mailed to
01:09:03the laboratory to do the test so.
01:09:07The remote testing right now is taking
01:09:09a little bit longer just because
01:09:10it takes time to get the test kit
01:09:12mailed to the patient to collect the
01:09:14sample and Mail it back to the laboratory.
01:09:16So on average that can
01:09:18add another week possibly,
01:09:19but blood work.
01:09:20We can do an coordinate at the
01:09:21time of the in person visit,
01:09:23so that does help expedite
01:09:24things a little bit more.
01:09:30Is that all?
01:09:32I think so, yeah,
01:09:34that covered it covered it well.
01:09:37So I know insurance is a tricky
01:09:40subject and someone had asked
01:09:42about what insurance should be
01:09:44set up before genetic testing.
01:09:46Besides life insurance,
01:09:47they would one of you be able to
01:09:51talk a little bit more about you
01:09:53know things to consider before doing
01:09:56genetic testing insurance wise.
01:10:02Sure, I can feel that question.
01:10:04So the other types of insurance that we don't
01:10:06have protections against discrimination,
01:10:09besides life insurance or disability
01:10:10insurance and then long term
01:10:12and short term care insurance.
01:10:14So those types of things,
01:10:16if you're interested in obtaining
01:10:17those types of policies,
01:10:19some people do decide that they would prefer
01:10:22to do that prior to having a genetic test.
01:10:25And we also have just more helpful
01:10:27information and links about discrimination
01:10:29and sort of insurance concerns and
01:10:32things like that on our website if you go.
01:10:35To the fact sheets section of our website,
01:10:38we have a fact she about insurance concerns,
01:10:41so maybe we can link the website somewhere.
01:10:44In the comments Alex so that
01:10:46people can check that out.
01:10:52Yeah, I'd be happy to facilitate that.
01:10:54'cause I think someone had
01:10:56also asked if this talk would
01:10:58be available on the website,
01:11:00and I know we're recording it,
01:11:03but someone fact checking it should
01:11:05be available on our website as
01:11:07well as the insurance FAQ sheet.
01:11:15On OK, let's see. So a couple
01:11:20of questions. I have one.
01:11:26One second.
01:11:30This is a very specific question,
01:11:32and to the P show participant who
01:11:34asked if I would recommend would
01:11:36be speaking with your genetic
01:11:38counselor about this in more detail,
01:11:41who would know the specifics
01:11:43of your current situation,
01:11:44including your personal and family history.
01:11:47Um? What city? So variants of
01:11:51uncertain significance is there.
01:11:53Would someone be able to talk a little
01:11:55bit more about the process of how we
01:11:58handle those currently in the process
01:12:00of updating patients on information,
01:12:03or what completions do if they have
01:12:05a variant of uncertain significance?
01:12:08I'm happy to address these questions,
01:12:10so just for background information,
01:12:12for those of you,
01:12:13those of us who may not be as familiar
01:12:17with a variant of uncertain significance,
01:12:20it's basically when there is a
01:12:22genetic change we just don't know
01:12:25if the change actually actually
01:12:27increases the risk for cancer,
01:12:29or if it's just a normal variation
01:12:32that makes us who we are.
01:12:34So because most variants of uncertain
01:12:37significance are reclassified
01:12:38as a normal variation.
01:12:39In the future,
01:12:41we treat those results most of the time
01:12:44it just has been negative results until
01:12:48further reclassification by the lab.
01:12:50So most labs and this is very
01:12:53specific for each labs.
01:12:54Most labs they work really hard to
01:12:57re classify all of these variants
01:12:59of uncertain significance in when
01:13:02they gather more information,
01:13:04more data on the specific variance
01:13:07they are able to re classify
01:13:09it as a normal variation.
01:13:12Or a mutation an when they do so,
01:13:16they let the ordering provider know about
01:13:19the reclassification and ultimately
01:13:21it is our responsibility to reach
01:13:24out to the patient to let them know
01:13:28about the variant reclassification.
01:13:30So there's nothing to do on the patients end.
01:13:34It's really the lab that's working hard,
01:13:38and then they communicate
01:13:40those reclassification with us.
01:13:42Who ultimately communicate their the
01:13:45reclassification with the patients?
01:13:47For the so,
01:13:49I hope this answers the question
01:13:51for what to do with it.
01:13:53The variant of uncertain significance
01:13:55at regarding the Followups.
01:13:58And for the second questions regarding the
01:14:02age at which your son could get tested.
01:14:06Except most mutation,
01:14:08most genes we don't recommend
01:14:11to test before the age of 18.
01:14:15There are some exceptions to the rule.
01:14:19If there are increased risk for children.
01:14:25Potential risk for in childhood.
01:14:29And so with the check two mutation,
01:14:33their recommendation would be
01:14:34at the age of 18 or more.
01:14:38But we even recommend to wait
01:14:40until there's an actual change
01:14:43in the management recommendation
01:14:45and or if they want to find out
01:14:48before starting a family.
01:14:50So the age of 18 or even later
01:14:54if there's not going to be any
01:14:57changes to the management for.
01:15:00For the children.
01:15:05Thanks Camille.
01:15:08So, as genetic counselors we all
01:15:10have some experience with some of
01:15:13the emotional impacts and even close.
01:15:15You brought up a really
01:15:18good range of possibilities.
01:15:20Bad reactions to these positive test results.
01:15:23So someone had asked if there are
01:15:26any psychologists or therapists
01:15:28who are trained to help deal with
01:15:31emotional challenges that can come
01:15:33as a result of genetic testing
01:15:35or dealing with those impacts.
01:15:37Would any of you like to elaborate
01:15:40on that further?
01:15:42Yep, so we do have a therapist who
01:15:45we have worked with in refer refer
01:15:48patients to who are interested
01:15:50in meeting with someone who is
01:15:53knowledgeable both about either.
01:15:55In some cases people want someone
01:15:57who works with cancer patients or
01:16:00survivors but also specialized in
01:16:02understanding the uniqueness of
01:16:04having a hereditary predisposition.
01:16:06So we do have therapists on staff that
01:16:09we can refer to or find providers.
01:16:12Local in the area who can also
01:16:15be a service to patients
01:16:17or other relative.
01:16:20So just give us a call.
01:16:22We're happy to help give the
01:16:24provided information to anybody
01:16:26who would find it helpful.
01:16:28Thanks my love. And so I think
01:16:31that's the last bit of questions.
01:16:34If anyone does have remaining questions,
01:16:37I encourage you to speak.
01:16:39Now. My panelists.
01:16:40I don't know if you guys have
01:16:43any final words or parting words
01:16:45of wisdom and did great takeaway
01:16:47slides that last chance to leave our
01:16:51participants and guests with some
01:16:53information from tonight's session.
01:17:02I'm also just want to thank
01:17:04everyone for spending you know,
01:17:06your night with last year and
01:17:08hopefully with the weeks coming
01:17:09ahead will continue to expand.
01:17:11The information about these genes,
01:17:13hereditary of risk medical management,
01:17:15and the various options that
01:17:17are available to people who are
01:17:19at increased risk for cancer.
01:17:21So we appreciate you tuning in
01:17:23and hopefully will see you guys.
01:17:25And maybe even more next week.