Family Health History: Let's Talk About It!

Featuring Kristina Coccoluto, a BRCA1 mutation carrier & heredity cancer advocate, in conversation with Jessica Martineau, MS, CGC, a board-certified genetic counselor who specializes in cancer genetics at NYU Langone’s Perlmutter Cancer Center.

CLICK HERE for the CDC's Family Health History resources.

CLICK HERE to find a genetic counselor.

Follow Kristina on Instagram at: @kristinacoccoluto

tinaswish.org/whattoknow

Episode Transcript

Speaker 1 (00:05):
Welcome to What To Know Down Below by Tina's Wish.
We're here to empower you withthe knowledge and tools you
need to advocate for your owngynecologic health. Knowledge
is power, and we encourageeveryone to join us in learning
more about what you need toknow down below.

Speaker 2 (00:29):
Hi everyone. My name is Christina Coca Ludo , and I
am thrilled to be your host forthis episode of What To Know
Down Below by Tina's Wish. Iwanna introduce myself first.
My name is Christina . As Isaid, I'm a BRCA one mutation
carrier, and I found out myrisk at 25 years old. Uh , it

(00:50):
was suggested by mygynecologist, so I can tell you
that story, but it was notsomething, I did not have
genetic counseling, and it'ssomething I so deeply wish that
I had before I got tested. Iended up with genetic
counseling before I elected tohave surgery years later. But
when I found out I had the BRCAmutation based on my family

(01:10):
history, it was something thatchanged the course of my life.
And I , now that I havecompleted both my double
mastectomy and completehysterectomy, I feel a breath
of fresh air. And I wanna sharewith all of the younger gals
always that are maybe newlynavigating their risk, what not

(01:30):
only it's like to live withhereditary cancer, but to know
that it's possible to move onbeyond your risk and live a
full happy life. And so knowingyour risk, in my opinion and in
my experience, has been so, soimportant, and I'm excited to
introduce to everybody heretoday. Jessica , um, uh, she is

(01:51):
our subject matter expertise,and she is a board certified
genetic counselor whospecializes in cancer genetics
at NYU Lings . Uh , is it PearlMutter Center ?

Speaker 3 (02:03):
Yep , that's right.

Speaker 2 (02:03):
Perfect. Um, well, welcome Jessica, thank you so
much for being here today.
Could you explain exactly whata genetic counselor does and
who might benefit from seeingone?

Speaker 3 (02:13):
Sure. And so nice to , uh, have this conversation
with you today, Christina , andthank you so much for having
me. Um, and as you said, I ,I'm a genetic counselor at NYU
. I've been there 11 years ,um, and have spent my career
working in hereditary cancer.
Um, so formally , uh, geneticcounselors help people
understand and adapt to themedical, psychological, and
familial implications ofgenetic contributions to

(02:35):
disease. So what does that meanin the cancer setting? Uh ,
what we do as geneticcounselors , um, we basically
help evaluate if a patient is ,um, a good candidate for
genetic testing, what thatresult might mean for their
clinical management and what itmeans for their life in , in
the bigger picture and fortheir family members. Um, and
then also if, you know, if ithas any implications for , uh,

(02:58):
their life insurance coverage,et cetera. Um, and then also
just the logistics of thatperforming, the testing,
getting insurance to cover thetesting, et cetera.

Speaker 2 (03:06):
Wonderful. So , mm-hmm . As you
know, we're here with Tina'sWish and their mission is so
focused on ovarian cancer andcreating awareness. Mm-hmm
. Why is beingaware of your family health
history so important,especially in the context of
gynecological health?

Speaker 3 (03:22):
So, knowing the family history is key because ,
um, we are looking for certainpatterns of cancer in a family
that may raise or lower oursuspicion of hereditary cancer
syndrome, or basically a , agenetic predisposition to
certain diseases, certaincancers. So knowing the sort of

(03:43):
particulars of your familyhistory really helps guide us ,
um, and our assessment of yourcancer risk. But even outside
of a genetic testing result,even if we have a negative
result, knowing that familyhistory can still help us give
you a cancer risk assessment.
So you may still qualify forincreased cancer screens, just
knowing the family history. Sothat's really, really a key

(04:03):
piece of information. And , um,just helping us assess if
there's any hereditary risk.
And the gynecologic setting,especially. Um, these are
cancers that , um, unlike say,a breast cancer, which you can
palpate , um, you know, you'regetting regular screenings for
gynecologic cancers dependingon the, the organ, either
there's no screening , um, youknow, these are internal ,

(04:26):
internal organs. You know, the,the cues to cancer may just be
symptomatic there , uh, harderto screen for in general, or ,
or there may be no screening.
Um, so knowing if you have anunderlying hereditary risk can
be really key information , um,to early detection or, or just
being aware of a particularrisk. Right .

Speaker 2 (04:47):
So if I think about what your role is mm-hmm
. As a counselor,and what my role has been as
somebody who advocates in thehereditary cancer community
mm-hmm . Afterknowing my risk mm-hmm
. Would you say,I often think about for the
people that are newlynavigating, or maybe they're
not thinking about their familyhistory at all mm-hmm
.

Speaker 3 (05:07):
Mm-hmm

Speaker 2 (05:07):
. How would you break down to figure
out what's important in familyhistory with your me
gynecological background orcancer in general? Because
maybe it's not necessarilygynecological that's the red
flag that could Right . To agynecological cancer. So what
kinds of cancers, if you wereto just be thinking about your
family tree Yes. What kind ofcancer should be a red flag for

(05:30):
a gynecological cancer? Right .
Okay . And , uh, who in yourfamily tree should we be
thinking about?

Speaker 3 (05:36):
Okay. Gotcha. Yes .
So, so, so cancer is reallycommon, right? One out of three
people gets cancer in theirlifetime. So having some family
history of any kind of canceris not uncommon. Um, and many
cancers are not hereditary,right? So things like lung
cancer typically are due to asmoking history. A cervical
cancer, which yes, is agynecologic cancer is usually

(05:57):
not hereditary. It's usuallybecause of an HPV exposure. Um,
so some of those details can bereally important. But in
general for , uh, gynecologic ,uh, hereditary gynecologic
cancer risk, we really wanna bekeeping an eye out for any
family history of ovarianfallopian tube or primary
peritoneal cancers. Um, anyfamily history of young breast

(06:21):
cancer , uh, meaning diagnosedbefore the age of 50 , um, even
within that realm , um, ifthere's a , a bilateral breast
cancer or triple negativebreast cancer, kind of more
specific cancers , um, thoseare cancers to keep an eye out
for a male breast cancer in afamily. Uh , pancreatic cancer
or metastatic prostate cancerare also big red flags. Um , a

(06:44):
young colon cancer , uh, coloncancer diagnosed before 50.
Those are all the big red flagsthat we look for in terms of
hereditary cancer andespecially hereditary
gynecologic cancer.

Speaker 2 (06:54):
Okay. Great. So, can I pause and ask the question
for you? Yeah . I took it, andlet's just say hypothetical is
that my aunt was diagnosed withpancreatic cancer mm-hmm
. At the age of52. I bring that to my doctor
and say, my aunt had pancreaticcancer at 52.

Speaker 3 (07:15):
So believe it or not, with pancreatic cancer,
it, it actually doesn't reallymatter the age, if you have
any, it's a bit like ovariancancer. If you have any family
history of ovarian orpancreatic cancer, you do
qualify for genetic testing.
Um, and that's with basicallywith, with BRCA genes on our
radar , uh, because pancreaticcancer is one of the cancers
that we can see an increasedrisk for , um, in BRCA positive

(07:36):
patients , um, a little morewith BRCA two than BRCA one.

Speaker 2 (07:40):
That's so important.
I don't think enough peopletalk about pancreatic cancer in
general when it comes to notonly screening, but mm-hmm
. The red flagswithin a family. I don't think
I've ever seen geneticcounselor say that. So that's
really incredible. I'm glad Iasked that question. Um , well,
it's ,

Speaker 3 (07:55):
It's , it's been a recent change too, so that may
be why you haven't heard thatthat changed a few years back.
And, you know, pancreaticcancer is often can also be
associated with, you know,history of, of heavy drinking
or smoking or pancreatitis ,um, or a diabetes history.
Those are non-genetic thingsthat, that can be involved with
pancreatic cancer risk . But ingeneral, I think it was two or

(08:17):
three years ago that guidelineschanged to include any family
history of pancreatic cancer.
Uh, you can consider genetictesting.

Speaker 2 (08:23):
Wonderful.

Speaker 3 (08:25):
You brought this up earlier when we were talking
about , um, you know , uh, whatshould we be looking for in the
family? It's really importantthat you look at both your
father's side of the family andyour mother's side of the
family. We inherit , um, halfof our genes from our mother
and half of our genes from ourfather. So the paternal family
history is just as important asthe maternal family history.

Speaker 2 (08:45):
Well , I will tell you that I inherited my gene
from my mother, but my motherinherited her gene from her
father, and he didn't pass fromany , uh, when he passed, it
was, was not cancer related ,but his sisters were . So
that's often mm-hmm . What canhappen, but mm-hmm
. I always talkabout how there's a difference
in generations moving forward,time technology and research.

(09:08):
And in my family, I was reallyblessed to see it on my
mother's side because it wasslightly more obvious than if
it was on your mm-hmm . Side .
That's why I have familyconversations so important. And
I know it can be complex if youdon't know. Mm-hmm . And
oftentimes people don't talkabout their family history. And
I know that for breast cancer,women in general, how often

(09:30):
kind of taken it silently theirdiagnosis and carried it and
suppressed it. So what wouldyou say are important questions
to ask if you were to ask yourfamily members or , or if I
might ask that question better,what are some key points in
starting a conversation aroundhealth?

Speaker 3 (09:48):
Yeah, that's a very good question. Especially now
as we come up on the holiday ,uh, Thanksgiving families
together, it's a greatopportunity to try to elicit
some of that information. Um,you know, you're absolutely
right. Um, each family dynamicis different and , uh, everyone
has a different relationship toa cancer diagnosis, and some
people are very private aboutthat. Um, and it can be a

(10:09):
little bit of a, a difficultsubject to brush with a , a , a
family member. Um, I think whenyou present the question to a
family member , um, within thecontext of , uh, you know, this
information can potentiallyprotect you and protect future
generations, it can sometimeschange , um, individual's

(10:30):
willingness to talk about itwhen they know that it could
have a larger impact. So Ithink, you know, when I've
spoken to patients aboutgetting this information from
my family, it's, it's, youknow, asking, you know, aunt
Betty, Hey, listen, I Iunderstand you , um, had a
cancer diagnosis some yearsago. Um, I know this is

(10:50):
information that, you know, youmay, may not wanna bring up
again, but it's informationthat could be really important
to me. Um, as I , uh, gatherinformation for evaluation for
hereditary cancer and it'sinformation that could protect
me from cancer in the future,would you be willing to, to
share a few more details withme? Um, so I think, you know,
like I said, when it's, whenit's wrapped up,

Speaker 2 (11:12):
Yeah , that's a great way to ask that
question.

Speaker 3 (11:15):
Yeah. Yeah. When you frame it as, as, as their
sharing of that knowledge canhelp protect other family
members, I think it, it tendsto shift things a little bit.

Speaker 2 (11:24):
So one of the, I think what I've always heard,
and correct me if I'm wrongmm-hmm . That the best way
after you kind of start theconversation mm-hmm . The
takeaways that you wanna haveto bring to your doctor would
be mm-hmm . The type of cancerthat someone had mm-hmm
. The age inwhich they were diagnosed.

Speaker 3 (11:40):
Yeah. So, so, so most important , um, you wanna
know which family members , uh,had a cancer diagnosis, what
the ages that they werediagnosed with cancer, that's
really key. Um, and then we'dlike to know what the age that
they passed away, if they'vepassed on , um, that's the, the
most important there. Andideally, we , we want three

(12:01):
generations. Um, your , yourcurrent generation, your
parents' generation, and yourgrandparents' generation. If
you can get all threegenerations there , um, if you
can get even more informationbeyond that , um, we , we'd
love to know if , if you know,the particular pathology of the
cancer , um, if it was forinstance, with breast, if it
was in both breast or onebreast , um, if it's a prostate

(12:24):
cancer, if you happen to knowthe Gleason score, all of those
extra bits of , of details arealways gonna be helpful to us
as well.

Speaker 2 (12:31):
So those , those answers typically right . That
helps determine what your risknumber is.

Speaker 3 (12:38):
It helps us determine if you'll formally
qualify for genetic testing.
All those little bits ofinformation can , um, help you
meet guidelines for , uh, foran indication for genetic
testing. And from that, thenit's a question of , uh, uh,
you know, if you meet thoseguidelines, then we can
typically get insurancecoverage for you. Um, the one

(12:59):
thing I I wanna sort of pointout , um, which may be a little
controversial, but all of thesedetails about your family
history, again, are with aneffort to, to to know if you
meet the guidelines and if wecan get insurance coverage for
your testing. But if you have asuspicion of, of some cancers
in your family, and you're notable to formally confirm them ,
um, even if you don't meetguidelines, you can still

(13:21):
pursue this testing. Uh, youmay just end up having to pay
out of pocket for the testingbecause we can't , uh, formally
check off those boxes to getyour insurance to cover it. Um,
but you can still pursue thistesting, and it's, these days
you're looking at about, youknow, 2, 250, 300 $50 out of
pocket if you wanna just payfor it out of pocket . Um, now

(13:42):
that's, you know , we don'twant any person off the street
to, to go through this. It'scertainly if you, if there's a
suspicious family history , um,even if you can't confirm it.

Speaker 2 (13:51):
So let's go back a little bit to, yeah , we're
having this conversation or atmm-hmm . That
we're doing it at Thanksgiving.
Mm-hmm . Mm-hmm .
What happens if you actuallycan't have this conversation
and within your family, or theydon't, some , you don't have
family members that you canreally actually ask these
questions, whether it's familydynamics or whatever it be .

(14:12):
Now, how do you move forward ifyou have those suspicions?

Speaker 3 (14:15):
Right. So it's tricky, right? Because health
records are protected and youcan't obviously access them. Um
, for, for HIPAA reasons , um,sometimes you can gather some
information from publicrecords. There's obituaries and
death certificates. Uh ,there's large public databases
that you can search for thosethings. And sometimes you can
gather a bit of informationfrom, from those , um,

(14:39):
sometimes , uh, family, friendsor community members may have
some additional information. Um, so you can gather it that
way. Um , there's a , a websitecalled family search.org that
has like a historical documentssearch option that you can use.
I've , I've heard of peoplegoing that route as well. Does

(15:00):
that that answer your question, ?

Speaker 2 (15:01):
Yes , for sure . I think that it's just important
to note that not everybody'scapable of asking those
questions, right ? So mm-hmm . You can still
advocate for your own health ,even if you don't necessarily
have access to all of thatinformation. Right. And
bringing this informationforward to mm-hmm
. Your genetic counselor mm-hmm . I think is
really valuable to know yourrisk, because it , in my

(15:25):
opinion, whether you, it's to,this is just solely my opinion,
but knowing my risk has givenme so many opportunities to not
only feel control around cancermm-hmm . Which
can be so important forpatients. Mm-hmm . Because I
saw in the generations beforeme, when you don't have
control, it's like the rugsgetting pulled up from
underneath you. Right . Thisallowed me to kind of feel

(15:48):
like, okay, this can be on acertain time. That's not to say
that there weren't hardships,or it wasn't difficult to
navigate a diag hereditarycancer diagnosis, but at the
same time, I felt like it wasso powerful to be able to say,
okay, now I can think aboutthis differently, and maybe my
circumstances can be differentthan the generation before me.

(16:09):
Yeah . So , um, I reallyappreciate, sir , do you have
any suggestions when it comesto organizing this kind of
information? Um, like any appsor tools that you think would
be important to utilize beforecoming in for an appointment?

Speaker 3 (16:23):
Sure, sure. You know, I mean, ultimately you
can just write down all thisinformation, and if you bring
it to a genetic counselor, theyhave programs that they, that
we use , uh, to , to triage allof this information. But , um,
if you're looking for aparticular tool , um, the CDC
actually has some greatrecommendations. So if you just
Google CDC Family History Tool, um, it , it , it pops up a

(16:47):
page with , with severaldifferent recommendations , um,
for like a, a formal tool touse for that. There are several
apps that are, are family tree,family history apps that , uh,
you can use as well. I, I justsearched in , uh, the apps
store and found several just at, at first glance. Um , but
ultimately you don't needanything special. Like I said,
it's, it's , we , we want threegenerations, your generation ,

(17:11):
um, you know, your siblings,their children , uh, your
parents, their siblings andtheir children, and your
grandparents, ideally , uh, wehave all that information. And
, um, your ancestry as well. Ifyou happen to know , uh, where
your , your ancestors , uh,came from, that's really
helpful. Um, but yeah, if it ,like I said, there's, there's
certainly plenty of tools togather that information , um,

(17:33):
if needed, but

Speaker 2 (17:35):
Wonderful. Well, Jessica, thank that was really
helpful, because I certainlyknow that when I was gathering
this kind of information, Iwish I was more organized about
it. So thank you for that. AndI know that for anybody
listening, Tina's wish is goingto include the link from the
CDC and offer different toolsat the bottom of this episode.
So you can just let click thelinks down below to navigate

(17:57):
that, and that might make it alittle bit easier for you as
you collect information.
Jessica, I wanted to ask youone final thing when it comes
to gathering this kind ofinformation, so mm-hmm
. Once somebodyhas gathered all this
information, they've used oneof the CDC recommended apps, or
they've just gathered it alltogether, could you touch upon
what the next steps would be asa genetic counselor and how

(18:20):
someone might think about whatthey should do with that
information?

Speaker 3 (18:24):
Right. So if you've gathered the information about
your family history, the firststep I would say is to speak to
your physician or yourgynecologist and say, listen,
I, I have some family historyof cancer that's concerning.
Um, and either , uh, they willput you in touch with a genetic
counselor themselves. Um, some,some physicians will order

(18:46):
their own testing and thenrefer to a genetic counselor
once there's a result. Um , butyou can always go to our
national website, which is theNational Society of Genetic
Counselors. It's nsgc.org.
There's an icon on the firstpage that is , uh, to find a
counselor. You click on theicon, you select cancer as the
specialty, and you put in yourzip code, and it will pull up

(19:08):
all the genetic counselors inthe area. So you can always
reach out to a geneticcounseling program , um, and
just tell them that you have afamily history of cancer, and
they will , uh, evaluate youand , and , uh, again, assess
all of those , uh, the , thefamily history to see if you're
a good candidate for genetictesting.

Speaker 2 (19:27):
Wonderful. I know that Tina is gonna also include
that one below . Right . Thatwould be super helpful. But I
wanted to ask you too mm-hmm . Could you also
connect upon, let's say someonedoes test positive for mm-hmm
. A high geneticmutation mm-hmm .
And , um, could you just kindof go over the potential

(19:47):
preventative measures regardingmaybe risk reducing surgeries,
but also ways to think about itand navigate mm-hmm
.

Speaker 3 (19:56):
The , a new diagnosis? Well, sure. The
first thing I wanna point out,which , um, you know, you
didn't have a genetic counselorinvolved in your, your early
diagnosis, but , um, having adiagnosis of a hereditary
cancer syndrome , um, does notguarantee that you will get
cancer, right? It , it meansthat you have an increased risk
above the average person, soyou're gonna have some extra

(20:19):
screenings in your lifetime.
Um, but this is all with aneffort to help reduce , uh,
your risk or, or , or, or have, uh, early diagnosis. This
diagnosis does not define you.
Uh, this is information, thisjust gonna help us take care
better care of you over theyears. Okay. Um, so I think
that's the most importantthing. I think early on, as you

(20:41):
probably experienced, it can bea bit of a shock, but most
people, after we talk to themafter a few months or a few
years , um, like, you feelempowered by this information
and feel like, now that I havethis information, I can be
proactive. I can take somecontrol over my life and my
cancer risk. And it tends to bea , a very positive thing in
their lives. They're able tohelp other family members , uh,

(21:02):
have this awareness as well. Soyou're helping your family . So
it's , it's good on multiplefronts. Um , now, in terms of
the steps that you can take,which I, I you're very familiar
with , um, very often it'sabout , um, extra screening. So
for BRCA positive women , uh,we do start the breast MRIs at
age 25 , um, and we includemammograms starting at 30. Um,

(21:26):
so you're looking at , uh, highrisk screening or the option to
have your breast removed toreduce your breast cancer risk.
We call that prophylacticmastectomy. Um, as well as ,
uh, um, with regard to , um,ovarian cancer risk, there's a
very real recommendation tohave your ovaries taken out at
the appropriate age to , um, toavoid ovarian cancer risk there

(21:48):
too. So it depends on what genewe're talking about, but these
are typically , um, extrascreenings or the options of
risk reducing surgeries.

Speaker 2 (21:57):
That was a beautiful answer. Thank you so much for
offering to ourlisteners. So, one of the
things that I often think aboutas somebody who advocates for
hereditary cancer, I oftenthink about when I feel like
sometimes when I talk onInstagram, I feel like I'm
talking into the abyss, right?
Jessica and I want somebody tobe thinking about maybe as they

(22:18):
gather for Thanksgiving, theirfamily risk a little bit
differently. And oftentimes Ithink about the person that
maybe kind of knows what I'msaying, but fluffs it off
thinking they don't have arisk. And I often, I've heard
some crazy numbers thrown outabout , um, how many people
actually are walking aroundright now, no , with a genetic

(22:41):
mutation and aren't aware of itsomewhere around like 50% of
the , uh, genetic mutationcarriers aren't aware of their
risk.

Speaker 3 (22:49):
We know for sure that we're missing so many
people that , uh, havehereditary risk and are, are
not getting referred or don'thave that awareness. In
general, about 10 to 15% ofcancer is hereditary. So
that's, that's a substantialnumber. Um, and certainly , um,
hope that people have awarenessabout this so that they , um,

(23:10):
we're capturing those thatreally do need to have this
testing. You

Speaker 2 (23:13):
Know, what's funny is I, I wanna just as you say
that, I often hear that in areverse way from specialists ,
and that's like a positive way.
I love that we're having thisconversation because oftentimes
when breast cancer or ovariancancer mm-hmm .
It's brought up, it's broughtup in a way to say, for
example, well, only 10% ofthese are actually hereditary

(23:35):
cancer. Mm-hmm .
So I feel like it minimizes theimpact or the sense of urgency
to know about hereditarycancer. Yeah , yeah . Yeah .
But I know that many people arewalking around right now not
knowing their risk. Mm-hmm .

Speaker 3 (23:48):
Mm-hmm

Speaker 2 (23:48):
. So important, and thank you for
that.

Speaker 3 (23:51):
And also to point out, actually more specifically
in the gynecologic , uh,setting, that actually about
25% of , of ovarian cancer ishereditary. So it's an even
higher chance for, for herediuh , hereditary ovarian cancer.

Speaker 2 (24:07):
And I know many of our listeners already know, but
if they don't, I think it's animportant time to note that
currently right now, there's noovarian cancer screening to
detect Yes . Ovarian cancer. Soit's so important to No , your
risk mm-hmm .
Since that's not something thatcomes with your path .

Speaker 3 (24:23):
Yeah, a hundred percent.

Speaker 2 (24:25):
I, I wanted to know if you could maybe also touch
upon, I know that I have theBRCA mutation, and that's one
that's really known, but arethere any other genetic
mutations that people might notbe aware of? Or maybe, you
know, 20 years ago people wereonly screened for maybe BRCA
mutations. Right . And nowthere's other known mutations.
So are there any other geneticmutations to touch upon that

(24:47):
maybe people weren'tnecessarily aware of? And it's
something that we can startthinking about?

Speaker 3 (24:53):
Yeah, Christina , you bring up a really, really
important point. For , for manyyears, especially in the, in
the gynecologic cancer setting,we only tested brca. Um , but
now we know that BRCA explainsabout 75% of hereditary ovarian
cancer, but about 25% ofovarian cancer is actually due
to mutations in a whole host ofother genes. Um, we know of

(25:15):
about 21 genes altogether thatare all associated with
hereditary gynecologic cancers.
Um, about 19 genes altogetherthat are associated with
hereditary breast cancers. Um,so these days, it's really
important to consider having apanel of genes tested instead
of just BRCA one and BRCA two.

Speaker 2 (25:33):
Wonderful.

Speaker 3 (25:34):
And typically these days, that's the standard of
care. Most practitioners areordering a panel instead of
just BRCA one and two.

Speaker 2 (25:39):
That's great. Yeah.
I think a lot of times whenother women or men are
discussing , uh mm-hmm . Genetic factors
in their family, they might saylike, oh, you know, my mom was
tested for the BRCA gene andshe doesn't have it. Therefore,
you know, I'm, I'm , yeah . AndI think that can be something
that we need to really createawareness around. Um, so in my

(26:01):
family, when we tested for thegenetic mutation, we solely
were testing for the BRCAmutation, because at that time,
we knew that BRCA one was in myfamily. Mm-hmm .
But we've talked about , uh,doing full genetic panels
mm-hmm . Let'ssay that someone does a full
genetic panel now and they havethis information mm-hmm
. What happensif, let's say a new genetic

(26:23):
mutation is now a , we are nowaware of what happens with that
information?

Speaker 3 (26:28):
That's an excellent question. This comes up all the
time. Um, so if a patientundergoes genetic testing for a
full comprehensive panel, andit's a negative result, but
there's still suspicious familyhistory, I always encourage my
patients to stay in touch withme and reach back out again in
2, 3, 4 years. And to recontactme at that time to see if
there's been a discovery of anynew , uh, breast cancer

(26:52):
susceptibility genes for , uh,gynecologic cancer
susceptibility genes , um, thatmay warrant , um, updated
testing. Now, your own genesnever change . So the previous
testing is not going to change,but we may have additional
genes that we can analyze inthe future, if that makes
sense. Yes .

Speaker 2 (27:09):
Makes total sense. I wanted to know also, you know,
do you believe at this point,if you say you're sitting with
a patient and you've just giventhem this really difficult
news, is there anything thatyou would offer on how they,
maybe, aside from what theyphysically need to do next
mm-hmm .
Regardless , say like, okay,now we've put a plan in place.

(27:31):
Is there any kind of emotionalsupport or something that you'd
offer or seen in yourexperience as a genetic
counselor that would be helpfulto somebody if they have heard
difficult news?

Speaker 3 (27:41):
Well, the first thing they should know is that
they're not alone. Right. Weknow that Absolutely . This is,
this is much more common than,than anyone's aware of. Um, so
we very often will put ourpatients in touch with support
groups. Yeah . Force is a goodone. Bright pink is another
good one. Um, uh, there's onecalled Stupid cancer.org that
we love as well. Um , andcertainly cancer.gov is, is a

(28:06):
really good resource for , um,information that's the most
UpToDate. Um, we like to sendour patients there as well. I
mean, there's a lot onlinethat's good and bad, so you
wanna be a little careful aboutwhat you find. But there are a
lot of online communities , um,where you can find support. Uh
, at our institution, we havein-person support groups as
well for newly diagnosedbreast, ovarian cancer

(28:28):
patients, but also newlydiagnosed with , um, hereditary
cancer syndromes as well. Thankyou . Um , so I think , yeah ,
yeah. Yeah. Um ,

Speaker 2 (28:36):
I think I'll touch upon too is that for me, I can
say that I actually had areally hard time, and I wanna
just note this, relating in a ,a support group setting, there
was denial within , eventhough, even though, let's say
that I was really well aware ofmy deep history, it was not a
shock to me that mm-hmm . I tested
positive. It was something thatI was really mentally prepared

(28:58):
for in a way mm-hmm . 'cause I had
seen so many people in myfamily get diagnosed mm-hmm
. So that wasslightly different. However,
news was still something thatfelt like a dark cloud over my
family. Mm-hmm .

Speaker 3 (29:11):
Mm-hmm .

Speaker 2 (29:11):
The time when I was diagnosed with a BRCA mutation,
social media wasn't where it istoday. I knew that one of the
most helpful things for me hasbeen finding community online
and hearing one-to-onerelationships with other women,
specifically other women. Whensomebody has shared a story
with me, it's shown me the way.

(29:33):
So I wanna impart any listenerwho wants to reach out to
anybody. If you, if my storymaybe doesn't resonate with
you, you can certainly reachout to me and I can help you
find the right person since Iam in this space. And that
Tina's wish will link myInstagram below. But it's ,
please don't ever hesitate tosend a dm mm-hmm . Create your

(29:54):
own community and mm-hmm . Toknow that you definitely are
not alone . And it does, eventhough it does feel like a
black cloud, it won't be thereforever. And yeah . I believe
another thing that I will justtouch upon is that I think a
lot of hereditary cancerpatients want to know what the
timeline is. Mm-hmm. One of the most

(30:16):
important things, like, whenshould I do this? By, when
should I do that by mm-hmm . And I think
that's, so we're talking aboutfertility and all mm-hmm
. Difficult , uh,things that are naturally
difficult to talk about ontheir own, right. Like mm-hmm
. Tough , a toughtopic in general. So imagine
when you take on some type ofhereditary cancer news , and

(30:37):
that's super anxiety inducing.
I think that having supportmatters and yeah . Knowing that
you aren't alone matters Forsure. Is there any , um,
resources that geneticcounseling offers when it comes
specifically to fertility,since that does relate to
gynecological cancer andplanning?

Speaker 3 (30:55):
Oh, you , you bring up such a good point about
fertility, and that's , um, asyou know, you know, very often
if you're going through thistesting in your twenties, all
of a sudden you're having tothink about having this
conversation with a futurepartner. And , uh, that there
is a , a real timeline on someof those things. Um, and that's
, uh, difficult for sure. Um,we specifically have an

(31:18):
oncofertility program at NYUthat we send our BRCA positive
patients to, and they havenurse, nurse practitioners that
walk patients through all thedetails of that. So we have
sort of a formal recommendationin that way. Um, you know, I
think the, there are otherlarger fertility groups. Um,

(31:39):
resolve is a good one. Um, Ithink they have a specific ,
uh, um, hereditary cancersubgroup there as well. Um, you
know, off the top of my head, Ican't think of , um, like more
specific things, but related tofertility. But certainly that's
a conversation that I thinkshould be had in a support
group. Um, one other thing Iwanted to kind of mention too,

(32:03):
'cause you , you bring up suchimportant details in your
process with all of this, isthat , um, yeah, that initial
diagnosis , uh, can be a shock.
And , um, you know, I alwayslike to try to point out to my
patients that this hereditarycancer syndrome was decided the
moment you were conceived.
Right. It came through eitherthe egg or the sperm that made

(32:23):
you, this is not anythinganyone has any control over.
This is mother nature runningits course, and it's not
something that you caught oranyone's fault. Right. Um , and
now we know , we just nowunderstand that you have this
hereditary cancer syndrome ,and now we can use this
information to , um, hopefullyprotect you in the future. So,
you know, it's, it's certainlya big thing to grapple with,

(32:46):
especially if you're doing it,you know, earlier in your life.
Um, but the earlier, you know,the better anyway , so that we
can get you set up with theappropriate screenings. Um, but
you do make a really good pointabout the , the fertility
issues. That's , um, that's areally difficult one to, to
work out, and we certainly tryto talk our patients through it
as well.

Speaker 2 (33:07):
Well , so I have three kids and I often talk
about Congratulations. My ,thank you. I, I had my first
daughter before the age of 30because it was recommended that
that could help reduce my risk.
Mm-hmm . I'll behonest with you, because I did
not have genetic counseling atthe time mm-hmm .
I really regret not knowing,and I share this openly all the
time mm-hmm .

(33:27):
That because I didn't havegenetic counseling, I did not
know all of my fertilityoptions. And I wish, now
looking back, I know that I'mon this path for a reason, but
I would so often that I couldhave chosen IVF to select an
embryo that tested negative forthe BRCA one mutation, so that
this could have ended with me.

(33:48):
Yeah . And when I had geneticcounseling after , uh, right
before I had my breast removedmm-hmm . For me,
I chose to, I felt like if Ididn't do it for one child, I
could not foresee, I know it'sdifferent for everybody. And
this is just my personalexperience mm-hmm
. I felt like I couldn't goahead and eradicate the gene

(34:08):
for my future children mm-hmm . And so I often
wonder, I know that my childrenhave a 50% risk of inheriting
this mutation and stay in thisspace, even though I've reduced
my risk right now the most thatI can currently with the
guidelines that are offered.
Mm-hmm . I find that one of themost empowering thing is to
know that people are advocatingright now for better options

(34:32):
for mm-hmm .
Better quality of life, bettermm-hmm . Uh, just
knowing that the needle'salways moving in the direction
of supporting not only scienceand research mm-hmm
. But to supportfamilies so that once you know
your risk, you're empowered tomake a positive change. So I'd
love to ask you , sorry, goahead.

Speaker 3 (34:50):
You know, I'm sorry . I wanna jump into , 'cause I
just realized I didn't answeryour question very well the
first time around. Um, I wasthinking about fertility , um,
with relationship to , uh, whenthe recommendations are to have
your ovaries removed. So thatalways puts a , a really tight
timeframe on everything. Butyou're absolutely right. We
always discuss , uh, fertilityoptions with our patients , uh,
with regard to , um, being ableto test embryos , uh, for, for

(35:16):
future generations. Um, so thatprocess is , is called pre
pre-implantation genetictesting. Um, and we, we
definitely discuss that withall of our BRCA positive
patients. And like I said, wethen direct them to a specific
ONCOFERTILITY program. Andthere are many of them that
exist , uh, throughout the us .
Um , but that's reallyimportant that our patients be
aware that they have thatoption , uh, to screen embryos

(35:39):
for future, for futuregenerations. So, I'm, I'm so
sorry to hear that you weren'taware of that. 'cause that's a
really, really important piecethat we definitely talked to
all our patients about .

Speaker 2 (35:49):
I'm really, really fortunate mm-hmm . That my kids
have seen the transformationand the way that I've been able
to not only step into myselffully, but mm-hmm
. Create awareness, raise fundsfor cancer research. Yeah .
Focus on all of the positivesand stay in the space to make a
change in this community.
Mm-hmm . Butthis, you know, I didn't have
this question prepared, but asour conversation unfolded, it's

(36:12):
a really important one to touchupon, is I often think about
those of us maybe that find outthat we have a genetic mutation
mm-hmm . Now weknow this information and our
kids are already here mm-hmm . And they're
maybe older . I think it's areally important conversation.
Maybe let's say that you're theone that knows of your genetic
status mm-hmm .

(36:33):
Or your mutation mm-hmm . Say , I know my
mutation, my children areteenagers, let's say mm-hmm
. When is it animportant time to discuss this
information with your family ?
If we are talking about, youknow, bringing up awareness,
when is it something like ,I'll ask that question, but I
just also wanna say that assomebody who has young kids, my

(36:55):
kids mm-hmm . Ikeep it simple for them. Now
they know that I carry thismutation mm-hmm .
And I don't scare them withthat. They could too. My
daughter that's older has that, that's 11 asked me the
question specifically, whenwill I get tested. Mm-hmm . She
started and Isaid, you know, with time
technology and researchchanging Yeah . Uh , we don't

(37:16):
know when that will be, butjust know that you'll always be
supported whenever thathappens. And , um, we will
always be able to trust doctorsof when that time appropriate.
And we're so lucky we know thisinformation. So I , yeah . I
just say that. So,

Speaker 3 (37:32):
So that's, oh , you bring up such a good point.
This is . This is sotricky and it's really, it's
really family dependent, right?
Mm-hmm . Um , andwhat you as parents feel like
is the appropriate time todiscuss this with your
children. Um, and theirunderstanding of, of basic
genetics , um, and of thingsthat are shared in a family, if
they have an understanding ofgenes and inheritance, that's a
great place to start. Um, but Ithink ultimately , um, you

(37:57):
know, what I always encouragemy patients is if , especially
if you're BRCA positive andyou, you have daughters,
obviously it matters for yoursons as well, but, but for your
daughter specifically , um, wetypically don't test , um,
minors for hereditary cancersyndromes unless there's any
risk for childhood cancers. Um, so they have to really be 18
to consider this testinganyway. Um, but for BRCA

(38:19):
positive women, you know, the ,the screening does start at age
25. So I tell my families thathave, you know, teenage
daughters that they shouldstart to consider this testing
sometime between age 20 and 25,but no later than 25. Um,
because that's when we wouldhave clinical management , um,

(38:40):
starting for them. Um, but, youknow, as a young person, you
know, you may not wanna beburdened with this information.
Uh, you , you know, don't youneed to start having breast
awareness at 20, but you don'tformally need to do anything
until 25. Um, so it's a , wewant patients to have, you
know, autonomy with thisdecision and to , um, make the

(39:02):
decision on their own as anadult when they feel they're
ready for it. But you're right.
Like when, when you have thatconversation with them , um,
and I would, you know, reallyuse your your children as a
guide too, as like you said,your daughter has asked
questions and, you know , um,help them guide that a bit too,
when they seem like they'reready for it and when you're

(39:24):
ready to talk to them about itin more detail. Um, and, you
know, again, I always like tokinda refer back to the
conversation about this is thisis really just nature
unfolding. This isn't anythingwe had a choice about. Um , we
didn't have any control over

Speaker 2 (39:40):
It. I've been right there and say something because
I , I think that I use myfamily story and I think that
this is really important tonote. So I just wanna say that,
for example, in my familymm-hmm . My mom
carried a lot of negativelycharged emotions around feeling
like she gave this to me, likeshe passed to me . Yeah . And
she felt so , uh, burdened bythat mm-hmm . That we kind of

(40:01):
cut off the conversation. Like,I didn't wanna make her upset,
she didn't wanna make me upset,therefore we didn't talk about
it mm-hmm . Andsometimes that had me feeling
not supported, and it's not mymom's fault. I understand the
journey that she was on. Right. But I see that and offer that
often when I tell my story sothat people have an
understanding that youremotional healing and where

(40:21):
you're at in this journey has alot to do with how it does kind
of trickle down to yourchildren. And I have a
beautiful, unique experience tobe able to offer from one
generation in the in-between tothe next. And I, I think that
all of us, I know my mom wouldlove to know that now, I view
her as incredibly supportive.

(40:41):
We've transformed that, and ithas to do with your openness
and willingness mm-hmm . And I feel
that's so important. And so toanyone listening that feels
like, you know, thisconversation may feel too heavy
right now mm-hmm

Speaker 3 (40:55):
.

Speaker 2 (40:56):
Okay . To feel that and feel empowered and just
know that taking controlyourself, and then the way in
which you heal emotionally, itdoesn't mean you have to stuff
it down and be the strong one,but that you can move with
those emotions and know , andknowing that it's happening for
you and I , that's kind of hardto hear, but in a way that

(41:20):
you're able to move the needleand make changes. And I, I look
forward to maybe seeing with myown children someday that we
can eradicate this, that maybemm-hmm . They
test positive it ends withthem. Right . I also believe
that should my kids testpositive, there could be, in my
lifetime, an ability tohopefully see some science

(41:41):
moving the direction towardsthe vaccine.

Speaker 3 (41:43):
Right, right .

Speaker 2 (41:44):
You know , that's controversial to say , but I
miss somebody who's gonethrough all of these things. I
would much rather see mychildren have a vaccine than
indoor surgery. So , um, thankyou so much for sharing your
expertise with us today. Ifthere's any, if you'd like to
offer three takeaways and youhope someone remembers that
came out of this episode, whatwould your three takeaways from

(42:05):
today be?

Speaker 3 (42:06):
I'm gonna give you three takeaways, but I also
just want to add one more thingtoo, what you're saying,
because I , you , you , you'reso articulate and you brought
up so many good points aboutthis journey with , uh, a
diagnosis of this and a familyand how it changes dynamics and
, um, the, the guilt thatfamily members may feel for
passing something on to a , a ,another family member. Um, you

(42:26):
know, I always try to point outtoo , that genetics are what
explain all of our biodiversityand , um, all the beautiful
things that happen and all ofthe evolution and some of these
changes that happen in ourgenes , um, help. And some of
them hurt and, and many of themare just random. So, you know,

(42:48):
with the , with the diagnosisof hereditary cancer syndrome,
you know, it's unfortunately agenetic change that does pose
risk, but it, again, it's,it's, it's just mother nature.
It's just biology that'shappening. And thankfully we
have the technology to be ableto understand this and then to
be able to take , um, steps tohelp prevent some of those
cancers. So that said , um, Ialso wanna give you the , the

(43:11):
three takeaway points. Um,first and foremost, if you have
any family history of ovariancancer, young breast cancer,
young colon cancer, pancreat,pancreatic cancer, or
metastatic prostate cancer ,um, those are the big red flags
we're looking for. Uh , pleasetalk to your doctor, your
gynecologist, or find a geneticcounselor to , uh, start the
process of being evaluated forhereditary cancer. Um, the

(43:34):
second one is that if you havea diagnosis of a hereditary
cancer syndrome, this is not aguarantee that you'll get
cancer in your lifetime. Itjust means that you have an
increased risk. And I thinkthat's a really important thing
for people to understand. Um,and then also the final point,
which you understand very well,is that , uh, knowing your risk
can, at first be overwhelming,but ultimately will be

(43:55):
empowering.

Speaker 2 (43:57):
Absolutely. I, I also, I just wanna say one of
the biggest takeaways fromtoday, you gave so many
incredible points, but I neverknew about pancreatic cancer
being something that is just ared flag overall, no matter
what the age is. So thank youso much for bringing that up
today. That was a big takeawayfrom somebody who I feel like
has a strong understanding ofgenetic, you know, counseling

(44:18):
in general now with myexperience. That was a big
takeaway for me today. So thankyou so much for all doing that
. And also , you're welcome .
Thank you . So a huge thank youto everybody listening as well,
and we hope you walk away fromtoday's episode , feeling
empowered to start aconversation about health
history with your family,because knowledge is power. And
Jessica, thank you once again.
Today was incredible.

Speaker 3 (44:40):
Thank you, Christina . And thank you for your story
as well.

Speaker 1 (44:49):
For more information about gynecologic health, visit
tina's wish.org/what to know .
That's tina's wish.org/wH-A-T-T-O-K-N oow . And like,
follow or subscribe whereveryou listen to your favorite
podcasts.