January 15, 2025 • 40 mins
Prepare to gain a deeper understanding of genetic testing and counseling as our Speaking of Women's Health Podcast host Dr. Holly Thacker interviews Ryan Noss, an expert in the genetic field.
They explore how genetic insights are transforming personalized healthcare, particularly in women's health, and the critical role these advancements play in cancer management and understanding genetic predispositions to various conditions. They also discuss the legalities surrounding genetic information, which is protected by the Genetic Information Non-Discrimination Act (GINA).
Welcome to the Fit, Healthy and Happy Podcast hosted by Josh and Kyle from Colossus...
Listen on: Apple Podcasts Spotify
Mark as Played
Transcript
Episode Transcript
Available transcripts are automatically generated. Complete accuracy is not guaranteed.
Speaker 1 (00:05):
Welcome to the Speaking of Women's Health
podcast.
I'm your host, dr Holly Thacker, the Executive Director of
Speaking of Women's Health, andI am glad to be back in the
Sunflower House for a newepisode.
For a new episode, and on thispodcast of Speaking of Women's
(00:32):
Health, we will be talking aboutgenetic testing and the law.
As you know, I'm your host, drHolly Thacker, the executive
producer of Speaking of Women'sHealth, and I am back in the
Sunflower House for a brand newepisode with genetic counselor
Ryan Noss.
I am so happy to have him here.
He works in the Center forPersonalized Genetic Health Care
(00:56):
at Cleveland Clinic and heworks with a whole entire team
of specialists, primary careclinicians, genomic staff, and
he helps to personalizepatients' care and the genetic
information obtained into anoverall personalized healthcare
(01:19):
plan.
So welcome, ryan Noss.
Speaker 2 (01:24):
Thank you so much for being here thank you very much
for the opportunity, dr thacker.
Speaker 1 (01:29):
I'm looking forward to it oh, and my fellows, I have
to say.
I run a fellowship forspecialized women's health and
they um, really enjoy the timethey rotate with you and your
team, yeah, and they've hadgreat things to say about you
and your care and your expertise.
So why don't you tell ourlisteners just a little more
(01:51):
about your professionalbackground and how you got into
genetic counseling, an expanding, important field?
Yeah?
Speaker 2 (01:58):
absolutely so.
As a genetic counselor, whatthat means is that I have a
master's degree specifically inthe field of genetic counseling,
so I have a master's of sciencein genetic counseling.
There are roughly 50 programsacross the country that provide
that type of training about atwo-year program.
(02:27):
A lot of it is didactic or inthe classroom, learning about
the field of medical genetics,as well as training and skill
building in psychosocial supportto help patients find a way to
not only understand theirgenetics and how that impacts
their health, but to find ahealthy way to integrate that
and cope with integrating thatinto their health care.
(02:50):
I found this profession Iactually didn't know it existed
until I was in undergrad.
I always liked science, Ialways wanted to help people and
felt there had to be acombination thereof, but really
wasn't sure what it was for mepersonally.
And, as fate would have it, Iwas in a science honorary and
(03:11):
one of the leaders was a seniorand explained oh, I'm going on
to become a genetic counselor,I'm going to grad school to
become that, and I had just readabout that field in a little
blurb in my textbook.
And I had just read about thatfield in a little blurb in my
textbook, and so I flagged herdown afterwards and said how did
you know, like, how are yougoing to do this?
What is this?
I've just learned about it.
(03:32):
I want to know more, and sheexplained that at um.
So I went to undergrad at OhioState and she explained that
there are genetic counselorsthere OSU boy.
Speaker 1 (03:41):
Boy, yes, you're an OSU grad.
Speaker 2 (03:43):
Go Buckeyes yeah absolutely, we have a big game
tomorrow, but yeah.
So I got a chance to shadow agenetic counselor and I like to
this day remember walking backto the dorms and calling my dad
on the phone and saying yeah,this is it, I figured it out,
this is where I'm going to be,and the rest is history well,
(04:06):
that is great, um, you know, forcareer counseling, because we
have a lot of our listeners.
Speaker 1 (04:12):
I'm sure have, uh, children and young adults.
Um, is this going to still be afield in big demand with AI?
Will that change anything?
Speaker 2 (04:23):
I'm just curious no, that's a really good question,
and I just don't see a world inwhich there isn't need for a
human element in understandingand providing care and
information surrounding geneticsof patients.
And so I certainly am a pro AIperson.
(04:47):
I've actually done some pilotstudies looking at things like
chatbots for patient educationbut no, I just don't see a world
in which that replaces the roleof the provider, and certainly
see a world where our rolecontinues to grow.
Speaker 1 (05:05):
So how would a person know that they need or want
genetic testing?
Sure.
Speaker 2 (05:12):
So genetics and its contribution to disease is
growing all the time.
And when I think aboutspecifically the world of cancer
genetics which, admittedly, iswhat I know the most about
classically we've thought aboutthe earlier a patient is when
(05:33):
they're diagnosed with thatdisease.
So in cancer we would thinkabout a patient diagnosed with,
for say, breast cancer at orbefore 50 would be someone we
would think about, or a casewhere there's just more people
with that same diagnosis thanstatistically makes sense.
(05:55):
There's certainly other typesof cancer, like pancreatic or
ovarian cancer, where thegenetic contribution for those
diseases is very significant andwe would recommend any patient
with that diagnosis considergenetic testing.
Speaker 1 (06:12):
Now I know that, as I as an ordering physician, when
I put in a medical geneticsconsult, cancer is an option
cardiovascular disease.
So is there different training,or does everyone get the same
training and then certain peoplejust specialize in certain
areas?
Speaker 2 (06:31):
No, that's a really good question as it stands.
Today we all have a baselinelevel of training and so during
that two-year program, I wouldsay a year of it is in the
classroom, a year of it is inclinic and covers a spectrum of
applications.
(06:51):
So I had rotations in prenatalgenetics and pediatric genetics
and cancer genetics, and for mecancer genetics resonated the
most with my view of what Iwanted to be as a clinician and
so chose to specialize in that.
(07:12):
There are worlds where there'sconversations about would our
profession at some point becomea clinical doctorate or
something to that effect?
And I think in that scenario weprobably will see people come
out of grad school with aspecific label, if you will, of
a cancer genetic counselor, andthen I would think probably
(07:35):
degenerative neurologic diseaseswould be like another whole
category and I know that's beenan argument that's been made
against just widespread testing.
Speaker 1 (07:45):
because why do you want to know that you're going
to say have Huntington's, koreaor something, necessarily when
there's nothing that can be done?
Speaker 2 (07:56):
Sure, and I think there are, in that setting of
pros and cons of genetic testing, in that setting of pros and
cons of genetic testing, and youknow, I will freely admit I'm
biased, given my profession andmy interest in this I have a
bias toward knowledge is power.
Speaker 1 (08:13):
Yes.
Speaker 2 (08:14):
And that by knowing this may or may not impact the
health care that I receive orwhat the ultimate transition of
my care looks like for acondition like Huntington's
where there's not knowneffective treatment to reverse
the disease, but it gives me anopportunity to live my life,
(08:37):
knowing something that maychange how I live my life and
how I set.
Maybe do I have children, andif I do, what is my legacy to
them, and so I think that'sagain from a place of bias, of
viewing it from a positive lens.
(08:58):
But I can certainly appreciatewhere, for certain patients,
that creates anxiety and worryand to a point where that's
debilitating and impedes theirquality of life, and in that
scenario I would argue nogenetic testing isn't
appropriate or isn't maybe thebest scenario for that patient.
(09:19):
And so certainly it's in manyrespects a conversation about
not just, do you qualify forthis, but is this something
we're prepared to take on andintegrate into our lives?
Speaker 1 (09:36):
So, as all this multi-sequencing becomes cheaper
and more expansive, do youthink we'll ever get to a point
where everybody has germlineevaluations?
Speaker 2 (09:50):
that's a good question.
Do I think we will get to thatpoint?
Yes, do I think we're at thatpoint today?
No, and I don't even think it'sa fiscal argument.
To be honest, I think a lot ofit is.
We don't yet know enough aboutthe genetic contributors for
(10:11):
some of these common diseases.
One in eight women developbreast cancer in their lifetime,
and at present we believe thatabout 10% of those cases are due
to a hereditary cause, and so,from a public health model, I
(10:35):
don't think that's a good model,because you run the risk of a
significant number of womentesting negative for one of
these traits but still having avery meaningful risk to develop
the disease, and the concern Ihave in that model is sure for
every one patient you identifywith a hereditary risk.
(10:55):
There are hundreds of women whotest negative and may not
understand the fullramifications of that and
perhaps go to a world of loweredsurveillance that isn't
clinically appropriate you know,back in the 90s with you know,
(11:25):
BRCA testing, and I've been toSalt Lake City and looked at
Myriad's lab and followed someof the litigation and then the
expansion, and I have a largepractice of women who have
inherited mutations, some highlypenetrant, some not as much.
Speaker 1 (11:40):
But it really does inform the risk stratification
and choices that are made.
And initially, when this cameon the forefront, patients were
petrified to have testing.
They were afraid they wouldlose medical insurance or life
insurance or that they would beshunned.
And I think that we've reallyadvanced well beyond that and I
(12:02):
have many mutation carriersliving full lives and doing very
, very well and just kind oftaking it in stride like
anything else.
I don't think it's asoverwhelming or scary as it used
to be.
Um, tell us just in general how, uh like before the visit, at
(12:25):
the visit, a lot of patientsthink they can just say I want
genetic testing and that theycan just get it ordered.
And that's not really like justgoing in for a blood test.
It's not as simple as like Iwant to know what my fasting
cholesterol is.
Sure.
Speaker 2 (12:39):
Yeah.
So you're right in that I thinksome of the fear and stigma
surrounding genetics and diseasehas appropriately dissipated as
we learn more, and so Icouldn't agree with you more
there.
As far as the process, whatdoes that look like?
Well, typically we would startwith initial consultation and at
(13:03):
that time reviewing thepatient's personal history.
Have they themselves ever had acancer diagnosis?
What are they doing now inregards to their cancer
screenings, as well as adetailed discussion about their
family history.
And are there different cancerdiagnoses?
What type of cancer?
(13:24):
When did those cancers occur inthose patients, in those family
members?
And part of that, sure, istrying to determine what is the
likelihood of a mutation.
And in some levels you can kindof distill that down to is
insurance going to cover thistest or not?
(13:44):
But I think there's a littlemore nuance to it in the sense
that are there aspects of thepatient's personal and or family
history that, just at baseline,that in and of itself should
indicate a differentsurveillance program, and are
just at baseline?
Are there things that we shouldbe looking at in terms of
(14:06):
referral?
But at that time, if we look atthat personal and family
history and say, yeah, thislooks to have a significant
potential to be genetic.
How would we figure that out?
Most typically, we would do ablood test.
Certainly, there are ways whereyou can do it as a saliva test
(14:27):
or a cheek swab, or even a skinbiopsy in very rare scenarios,
but most commonly it's a bloodtest.
Speaker 1 (14:33):
Like those persons who have, like
myeloproliferative disorderswhere you can't just draw their
blood.
Speaker 2 (14:39):
Correct.
So if a patient has leukemiaright like so, am I testing
their genetics or am I testingtheir leukemia's genetics?
Exactly, and so in that case wewould want a different specimen
source, but but by and large wewould look at a blood test and
we have had several priorpodcasts in our last few seasons
and we have had several priorpodcasts.
Speaker 1 (14:59):
In our last few seasons I've interviewed Dr
Holly Peterson who formerlydirected our medical breast
because she deals with high-riskpatients, and that was a very
interesting discussion.
I've had my son, stetsonThacker, who's a PhD in
molecular medicine and cancergenetics and he's very involved
(15:20):
in the genetics world.
In fact, sometimes listening tohim like everything is genetic,
it's like I'm like, okay, thiskind of is going down a bad
pathway here to say thateverything is predetermined,
which of course it is not, andeven people with highly
penetrant problems don't alldevelop cancer or cardiovascular
(15:41):
disease, you know, or otherother potentially heritable
conditions necessarily.
So I think that's importantthat people do have agency and
do have options and choices.
I got interested in the GINAlaw actually and you're actually
(16:01):
listening to the SpeakingWomen's Health podcast.
I am interviewing geneticistRyan Noss about genetic testing
and the law and I was veryinterested in the GINA law
personally because I recentlyhad a family member who was
diagnosed with a cancer thatlooked like Lynch syndrome and
(16:27):
the female relatives in myfamily my mother died very young
of an unrelated illness and hermother died very young of a
cancer which in retrospect couldhave been Lynch, and so I
thought, well, like my sonStetson's oh, mom, you're too
old.
I mean if you had this, youwould have already had cancer.
I'm like, probably.
I mean, that's one thing aboutgetting older the older you are,
(16:50):
the less likely it is thatyou've had a highly penetrant
genetic lesion.
However, I still have patientswho are otherwise healthy and
have good health habits andthere's other cofactors who
don't.
But what really drove me to gettested was I have three sons and
some of my sons have children,including female children, uh,
(17:14):
of which you know, uterinecancer, ovarian cancer, breast
cancer and then, of course, forboth sexes, skin cancers, colon
cancer, screenings etc wouldhave an impact, and when I went
through the whole process, itwas very interesting.
I was able to do it remotely,which is nice.
It seems like there's a hugebacklog in services and it was
(17:38):
really great.
Informed consent and the wholeprocess I thought was really
nice and smooth.
But the questions that I had Iknew what would happen with me
personally, what I would have todecide to do if I was positive
and the test, as they explainedto me, could be positive, which
means you have it negative, oryou could have a variant of
(18:00):
unknown significance.
Those are like your threechoices, right.
And so when I got my resultsback, I was very happy and
relieved, especially for myoffspring and grandchildren,
that I was negative.
For that.
That's great For that.
And then, of course, I have aVUS, which of course, I told my
son and he started laughing Haha ha, that's so funny.
(18:20):
Of course, which do you want totell us about VUSs.
I think it's benign.
I'm not losing any sleep, butthat goes to show the more you
do testing, you can find thingsthat you don't know what they
mean and for a lot of peoplethat can cause a lot of anxiety.
Speaker 2 (18:37):
Well, absolutely, and so to kind of define what a
variant of unknown significanceis.
So I like to like even take astep back for a moment of what
is a gene, the way I wouldencourage a patient to try to
visualize a gene, because I meanspoiler alert I've been doing
this for 12 years.
(18:59):
I've never seen a gene with myeyes, my eyes, I've never seen
one, and and so it's not pantsthat you wear, that just fit
perfectly.
No, no, it's not my Wranglers,it's not my Wranglers, it's um,
you know, and, and so I like totry to encourage a patient to
picture it.
And and how I visualize it isit's a set of instructions
(19:20):
telling my body how to do a task.
And so if we think of it asthis written code and a negative
result means, well, the code iseither spelled exactly how it's
supposed to and I'm going toput in air quotes normal meaning
.
It looks the way in which weexpect that sequence to look.
(19:41):
Now, a positive result or apathogenic result is where
there's a difference in thatgenetic sequence.
That's clearly impacting thoseinstructions.
So if I deleted steps out of aninstruction manual, I think
(20:02):
it's easy to picture how thatwould lead to the job not being
done correctly.
Versus a variant is saying well,it's different.
The way in which this iswritten in your makeup is
different than in this.
Again, normal or expectedversion.
Normal or expected version.
(20:27):
But whether or not it trulyalters those instructions,
whether or not it causes harm,is not known, and that can be
for a variety of reasons.
A lot of times it's becausewe've not, the scientific
community hasn't observed thatspecific variant enough times to
really get a proper clinicalcontext for it and that's why
it's important to note it.
Speaker 1 (20:47):
And these companies that do the testing.
They keep big databases andthat's very important for, you
know, future advances.
When I had getting my informedconsent to decide to get the
testing, I wanted to prepare inadvance, you know, for, like I
always do with my patients,let's plan for the worst and
(21:08):
hope for the best with justeverything that we do, because
you just don't want to becavalier.
So I already knew what I woulddo personally.
But I was concerned about myoffspring, who are young and
healthy, not even at the age ofstarting any cancer screening
early, but how that might affectthem.
I mean, I know for myself, orif you're established, you can't
(21:29):
be discriminated.
You know, medically,insurance-wise, etc.
But when I found out that ifyou have really young children,
certainly they don't need to beburdened with it when they're
not even adults, but if they'rejust starting their career or
they don't have life insurancemaybe, or if they're going to be
in the military right or be ina very small company under 10
(21:52):
employees, so tell me about justthe current state of legalities
.
You know, we're kind of at theend of 2024, and this may air in
season three in 2025.
So at this point in time andthen you're always welcome to
come back when there's majorchanges or other things that we
(22:12):
don't get to finish talking-about.
Speaker 2 (22:14):
Of course, I would love to come back.
Speaker 1 (22:15):
But talk a little bit about some of the legal
implications that you have toimpart to your patients.
Speaker 2 (22:22):
Sure.
So you had mentioned earlierGINA and a law called GINA, and
essentially that's an acronymfor Genetic Information
Non-Discrimination Act, and thiswas a bill that was signed into
law in 2008.
And essentially it was built offof the Americans with
(22:44):
Disabilities Act and and so, asyou were kind of alluding to
these like carve-outs and partof it is it's similar carve-outs
, as was part of ADA, butessentially what that law was
putting in place is protections.
(23:07):
Putting in place is protectionsfor a patient from their
employer as well as from theirhealth insurer and that would
mean both their current as wellas hypothetical future employer
health insurer and stating thatthey cannot ask to obtain this
information, they're not allowedto act upon this information in
in the sense that I can't bedenied a promotion because I
(23:29):
have a genetic condition, um, orfrom a health insurance.
I can't be dropped from thatplan or have my premiums or
deductibles changed when I applyfor a new health insurance.
I'm they're not allowed to askme if I've ever had any of this
to establish what my plan shouldlook like.
Again, you alluded to the ideathat there are some areas where
(23:55):
there may be I hesitate to sayloopholes, but there are
certainly scenarios where itdoesn't apply to all people, and
part of that is again in linewith the Americans with
Disabilities Act, where forsmaller employees, those that
have less than 10 employees,there aren't the same level of
protections, as well as those inactive military there are not
(24:21):
necessarily the same level ofprotections, as well as.
Speaker 1 (24:24):
And does that have anything to do with the physical
fitness status, like, say, youhad an inherited cardiac
condition?
Speaker 2 (24:32):
I believe that would be the argument.
Yes, and actually what'sinteresting is I don't fully
understand how this works in theworld of athletics, but we have
certainly seen certain athletes, especially in the in in
basketball, that have beenflagged as having potential
(24:53):
cardiovascular related concernsand that then impede impacts
their their draft status.
So I don't know all of thelegalities of that.
Like Marfan syndrome, they'rereally tall, Exactly.
Speaker 1 (25:02):
Wide arms fans their draft status, so I don't know
all of the legalities of that.
Like Marfan, syndrome.
Speaker 2 (25:04):
They're really tall, exactly yeah, and have really
wide arms for fans.
Yeah, and which would make thema phenomenal defender Right,
the problem being they're alsoat significant risk for an
aneurysm.
Speaker 1 (25:16):
Yes.
Speaker 2 (25:17):
And so there's catastrophic health concerns
surrounding it.
I'm blanking on his name now,but there was a basketball
player at Baylor who wasprojected to be a lottery pick
and ended up being identified ashaving Marfan syndrome prior to
the draft and actually wentundrafted Wow.
So I don't exactly know all ofthe legalities of that.
(25:38):
I'm going to admit I don't knowthat.
The other important thing tothink about with it is some of
these communities have otherprotections or other bylaws and
rules within their owncircumstances and then, like a
(25:59):
lesser known one, or at leastone that doesn't impact us here
in Cleveland as much as, givenour demographics but American
Indians or indigenous peoplealso don't fall under that same
in terms of, like the nationallyprovided health care.
Speaker 1 (26:23):
And again, I'm not going to begin to try to unpack
that one.
So then, in general, what doyou recommend for your patients
that might have BRCA gene or ATMor CHECK or BRIP or?
all these expanding mutationsthat have variable risk for
breast cancer, ovarian cancer,colon cancer, pancreatic cancer,
(26:43):
prostate cancer.
Obviously, if somebody is anadult and they're established,
they need to know if they havethis so that they can start
screening and they don't dieprematurely when it could have
been stopped.
But for their offspring, ingeneral you say, wait till 18,
21 or 25.
When they're established,they've decided whether they're
in the military or not.
(27:03):
They decided whether they'regoing to be in a super small
business or not.
Sure.
Speaker 2 (27:07):
I mean, that's a really great question, and to me
there are a couple when I thinkabout testing the next
generation.
To me there are a handful oftime periods that I would think
about.
One of them is and I wouldargue this is probably the most
(27:28):
important one is what is the agein which your medical care will
be altered?
And so, if it's a conditionwhere that would alter a minor's
health care, we may look atgenetic testing prior to the age
of 18, so that we know thatwe're following them
appropriately.
Speaker 1 (27:48):
And what would be some examples of those
conditions?
Speaker 2 (27:50):
Sure.
So an example of that would beFAP, or familial adenomatous
polyposis, which is due to agene called APC, where the risk
of colon cancer is significant,even in young people, and so we
do recommend colonoscopies inpatients under the age of 18.
(28:14):
And in that scenario, you know,certainly as a parent, I might
be more inclined to saying well,do you actually have this
before I subject you?
Speaker 1 (28:24):
to a colonoscopy screening.
Speaker 2 (28:25):
Yes, Right, Right.
So that would be a scenariothat I might think about it
prior to the age of consent.
But if we're saying no, yourcare is not going to be altered
as a minor, Well, ultimately wewe want the next generation to
be independent contributors tosociety that are capable of
(28:49):
making their own decisions.
Speaker 1 (28:50):
And should be afforded informed consent, which
minors really can't.
Speaker 2 (28:53):
Exactly, and autonomy and all of those things, and so
in that sense I wouldn't wantto test them until they were at
least 18.
Test them until they were atleast 18.
Now, I don't exactly know whatmagic happens that night when
you go, you're 17 and then youfall asleep, and then you wake
up and you're 18 and somehowyou're now all knowing.
I don't exactly know what magichappens, but certainly that's
(29:16):
an age where we would thinkabout testing.
Speaker 1 (29:19):
Well, certainly so many things legally change, like
I know the moment my childrenbecame 18.
They signed, you know, they hada power of attorney and their
health care directives because,as a parent, you're no longer
technically legally over them interms of making you know
medical decisions, in terms ofan emergency, so I guess that's
(29:40):
why that would be a time period.
Speaker 2 (29:41):
Yeah, the law, the law would support that yeah um,
but you're.
but there's a little bit morenuances to it too, as you kind
of alluded to.
As far as you know again, if so, let's say, my 18 year old
(30:01):
could have Lynch syndrome.
Well, they're 18, they're anadult, they can consent to that
test if they want.
Through Gina, they would haveprotection from a health
insurance perspective, from anemployer perspective, but
there's not universal protectionwhen it comes to other forms of
(30:24):
insurance, so things like lifeinsurance, because what happens
is that genetic test resultbecomes part of that person's
medical record.
Speaker 1 (30:32):
Yes, yes.
Speaker 2 (30:34):
And when a person applies for life insurance, it
is within that company's rightsto ask to obtain your medical
records and use those todetermine what your plan should
be Now.
What?
Speaker 1 (30:48):
about if, say, the adult, the young adult, knows
that one of their parents ispositive, but they don't know
their own results?
Can that insurance company haveto obtain that information?
Speaker 2 (31:05):
It's a little stickier and part of it is
depends on how exactly that'scategorized, even within their
medical record.
But it's also a theoreticalrisk versus a known risk which
would be weighted differently.
Speaker 1 (31:20):
And then what about marriage, childbearing, et
cetera?
Because if someone knows,they're not going to start a
family until, say, 30, eventhough I always encourage people
.
Your gametes are getting olderfaster than you think you are,
and it's better to reproduceearlier rather than later but
that's a whole other podcast.
(31:41):
If someone's not immediatelygoing to need that screening for
that condition and they're notplanning to start a family with
those kinds of implications yet,then they have a little more
time.
Speaker 2 (31:55):
Sure, sure and, and I suppose the other, the devil's
advocate to that is not everypregnancy is a planned pregnancy
.
Speaker 1 (32:03):
Exactly, exactly.
Speaker 2 (32:04):
But I think that's where you know you have to.
Fortunately, my children arestill second grade and younger,
so I haven't had to have thosetypes of conversations yet.
Speaker 1 (32:15):
You will.
Speaker 2 (32:17):
I, I, I, unfortunately, unfortunately,
whatever I will, but you know, Ithink again.
You're right, though that thatfamily planning is another time
period where we would considertesting.
You know, ultimately, what Iwould encourage that young adult
to consider would be obtaininglife insurance prior to genetic
(32:40):
testing.
Speaker 1 (32:41):
Yes, and that's the way that I was, you know, going
to proceed, you know, with myadult children, which I always
told them anyway, it's a lotlower premiums to do it when
you're younger.
And if you're young and buyinga house and starting a family,
getting married and have debt,you know you really should have
life insurance.
But I guess that's anotherwhole financial topic.
Speaker 2 (33:03):
Yeah, yeah, now we're .
Now we're going way into theweeds.
Speaker 1 (33:06):
Yes, of like life planning.
But you know, knowledge is ispower.
One thing that I see with a lotof my female patients, many of
them who have, you know, variousrisk for cancer and are dealing
with it themselves.
Some have had surgeries likehysterectomiesectomies,
colonoscopies, more frequent,frequent doctor visits, more
(33:28):
intense surveillance, asrecommended for their individual
situation.
That I've noticed with theiroffspring that their female
children are a lot more likelyto pursue the genetic testing
than their adult male children.
And obviously males cannot getovarian or uterine cancer.
Of course rarely they can havebreast cancer and we sometimes
(33:51):
do see that in men, geneticallywho have BRCA gene et cetera.
But I don't know how much ofthat is just cultural that men
just don't seek medical services.
But they can have daughters.
They can have prostate cancerand pancreatic cancer and colon
cancer too.
Speaker 2 (34:08):
Oh, absolutely, and I think it's a.
I, as a male, have somethoughts or feelings around all
of that, in the sense that I dothink to an extent there are
some myths that when we thinkabout conditions like BRCA, that
disproportionately the thecancer risks are
(34:29):
disproportionately higher inwomen than in men yes.
I think there's almost a amisconception of it being sex
linked yes, in the sense of likea woman can only pass it to a
woman, which is not true, ofcourse, and and so I think
there's almost even just thisneed, like a certain level of
education that needs to comeinto play, of even making sure
(34:51):
the patient's aware that theirsons could carry this trait.
Um, and and also to your point,men, yes, the risks are
significantly different in menand women in terms of breast
cancer, but it is a disease thatcould impact a male.
Um, I have to imagine, I thinksome of it is are those
(35:11):
misconceptions, but I think youalso tapped into something where
there are a whole host of Iknow we're speaking of women's
health in this podcast but butwomen take care of their family
speaking of men's health, Ithink there's a whole, there's a
whole litany of research thatshows men's health lags behind
(35:33):
women's health in terms ofproactive seeking, proactive
care.
yes, and and I think this isprobably part of it yeah, yeah,
same song, different verse interms of why maybe the male the
uptake of testing is lower inmen than women.
Speaker 1 (35:49):
And you know how reliable are these tests Because
of course we know you can get ablood pressure, you can get a
blood sugar and there's so manydifferent things that can affect
it.
There's lab error with justregular blood tests that we do
and we a lot of times willrepeat things with just regular
blood tests that we do and we alot of times we'll repeat things
.
Speaker 2 (36:11):
No, absolutely so.
When we think about the abilityfor these labs to produce what
your genetic sequence or yourgenetic code is, it's highly
accurate, highly reliable.
We're talking sensitivityspecificities of 99.5 to 99.9
percent accuracy.
And there is CLIA, which is alab certification body that any
(36:33):
of the medical commercial labsneed to have that type of.
They need CLIA certification inorder to offer their testing.
So there's certainly a lot ofthings in place to ensure
reliability of results.
I think to your personalexperience of well, it
(36:56):
identified a VUS.
I mean, I think that's adifferent beast to it in the
sense of it was highly reliablein its ability to tell us what
your sequence was.
Speaker 1 (37:06):
Yes.
Speaker 2 (37:07):
But there is certainly a limitation from a
clinical interpretationperspective that may lead to
those types of findings.
Not so much that I think it'san inaccurate finding, but it
may not still be a satisfyingfinding.
Speaker 1 (37:30):
And I have some patients that are very
cost-focused, and obviouslythere's a cost for consultation
with a geneticist, which needsto be done before doing genetic
testing.
I have some patients who wantto just go straight to the
Invitae panel or just pay for itthemselves.
And what kind of comments doyou have about that process?
Sure, so.
Speaker 2 (37:51):
I think there are certain levels of misconception
about insurance coverage andgenetic testing, insurance
coverage and genetic testing andthat I think some patients
there's a certain level ofapprehension to pursue it
because they're afraid theythemselves are going to be
(38:11):
responsible for, you know,thousands upon thousands of
dollars of bills, which,honestly, is not the case.
That when done through aclinical setting where it's a
knowledgeable provider, the samelevels of assessment that we're
(38:34):
using to try to say, well, whatis the likelihood of there
being a mutation present, havebecome for mostly for better um
have been adopted by insurancecompanies as well to determine
what are scenarios where theywould cover testing.
So, by and large, when agenetic counselor would say to a
(38:57):
patient yes, this is aclinically appropriate test to
do, yes, this is a clinicallyappropriate test to do.
Speaker 1 (39:07):
The insurance company would agree with.
Yes, yes, and so it's it's.
It's smooth in that regard.
So I really appreciate youjoining us.
Uh, ryan, because this has beenso enlightening, we'll have to
have you back because there's somany other topics that we
didn't get to.
I really appreciate you takingtime from your really busy
schedule and I want to thank ourlisteners for tuning in.
(39:31):
We're so grateful for yoursupport.
Please leave us a five-starrating, if you would, and you
can forward this to your friendsand family.
A five-star rating if you would, and you can forward this to
your friends and family.
If you don't already subscribe,please hit the subscribe or
follow button and then you won'tmiss any future episodes.
(39:52):
And thank you again for joiningus in the Sunflower House and
I'll look forward to seeing youagain.
Be strong, be healthy and be incharge.
Welcome to the Speaking of Women's Health
podcast.
I'm your host, dr Holly Thacker, the Executive Director of
Speaking of Women's Health, andI am glad to be back in the
Sunflower House for a newepisode.
For a new episode, and on thispodcast of Speaking of Women's
(00:32):
Health, we will be talking aboutgenetic testing and the law.
As you know, I'm your host, drHolly Thacker, the executive
producer of Speaking of Women'sHealth, and I am back in the
Sunflower House for a brand newepisode with genetic counselor
Ryan Noss.
I am so happy to have him here.
He works in the Center forPersonalized Genetic Health Care
(00:56):
at Cleveland Clinic and heworks with a whole entire team
of specialists, primary careclinicians, genomic staff, and
he helps to personalizepatients' care and the genetic
information obtained into anoverall personalized healthcare
(01:19):
plan.
So welcome, ryan Noss.
Speaker 2 (01:24):
Thank you so much for being here thank you very much
for the opportunity, dr thacker.
Speaker 1 (01:29):
I'm looking forward to it oh, and my fellows, I have
to say.
I run a fellowship forspecialized women's health and
they um, really enjoy the timethey rotate with you and your
team, yeah, and they've hadgreat things to say about you
and your care and your expertise.
So why don't you tell ourlisteners just a little more
(01:51):
about your professionalbackground and how you got into
genetic counseling, an expanding, important field?
Yeah?
Speaker 2 (01:58):
absolutely so.
As a genetic counselor, whatthat means is that I have a
master's degree specifically inthe field of genetic counseling,
so I have a master's of sciencein genetic counseling.
There are roughly 50 programsacross the country that provide
that type of training about atwo-year program.
(02:27):
A lot of it is didactic or inthe classroom, learning about
the field of medical genetics,as well as training and skill
building in psychosocial supportto help patients find a way to
not only understand theirgenetics and how that impacts
their health, but to find ahealthy way to integrate that
and cope with integrating thatinto their health care.
(02:50):
I found this profession Iactually didn't know it existed
until I was in undergrad.
I always liked science, Ialways wanted to help people and
felt there had to be acombination thereof, but really
wasn't sure what it was for mepersonally.
And, as fate would have it, Iwas in a science honorary and
(03:11):
one of the leaders was a seniorand explained oh, I'm going on
to become a genetic counselor,I'm going to grad school to
become that, and I had just readabout that field in a little
blurb in my textbook.
And I had just read about thatfield in a little blurb in my
textbook, and so I flagged herdown afterwards and said how did
you know, like, how are yougoing to do this?
What is this?
I've just learned about it.
(03:32):
I want to know more, and sheexplained that at um.
So I went to undergrad at OhioState and she explained that
there are genetic counselorsthere OSU boy.
Speaker 1 (03:41):
Boy, yes, you're an OSU grad.
Speaker 2 (03:43):
Go Buckeyes yeah absolutely, we have a big game
tomorrow, but yeah.
So I got a chance to shadow agenetic counselor and I like to
this day remember walking backto the dorms and calling my dad
on the phone and saying yeah,this is it, I figured it out,
this is where I'm going to be,and the rest is history well,
(04:06):
that is great, um, you know, forcareer counseling, because we
have a lot of our listeners.
Speaker 1 (04:12):
I'm sure have, uh, children and young adults.
Um, is this going to still be afield in big demand with AI?
Will that change anything?
Speaker 2 (04:23):
I'm just curious no, that's a really good question,
and I just don't see a world inwhich there isn't need for a
human element in understandingand providing care and
information surrounding geneticsof patients.
And so I certainly am a pro AIperson.
(04:47):
I've actually done some pilotstudies looking at things like
chatbots for patient educationbut no, I just don't see a world
in which that replaces the roleof the provider, and certainly
see a world where our rolecontinues to grow.
Speaker 1 (05:05):
So how would a person know that they need or want
genetic testing?
Sure.
Speaker 2 (05:12):
So genetics and its contribution to disease is
growing all the time.
And when I think aboutspecifically the world of cancer
genetics which, admittedly, iswhat I know the most about
classically we've thought aboutthe earlier a patient is when
(05:33):
they're diagnosed with thatdisease.
So in cancer we would thinkabout a patient diagnosed with,
for say, breast cancer at orbefore 50 would be someone we
would think about, or a casewhere there's just more people
with that same diagnosis thanstatistically makes sense.
(05:55):
There's certainly other typesof cancer, like pancreatic or
ovarian cancer, where thegenetic contribution for those
diseases is very significant andwe would recommend any patient
with that diagnosis considergenetic testing.
Speaker 1 (06:12):
Now I know that, as I as an ordering physician, when
I put in a medical geneticsconsult, cancer is an option
cardiovascular disease.
So is there different training,or does everyone get the same
training and then certain peoplejust specialize in certain
areas?
Speaker 2 (06:31):
No, that's a really good question as it stands.
Today we all have a baselinelevel of training and so during
that two-year program, I wouldsay a year of it is in the
classroom, a year of it is inclinic and covers a spectrum of
applications.
(06:51):
So I had rotations in prenatalgenetics and pediatric genetics
and cancer genetics, and for mecancer genetics resonated the
most with my view of what Iwanted to be as a clinician and
so chose to specialize in that.
(07:12):
There are worlds where there'sconversations about would our
profession at some point becomea clinical doctorate or
something to that effect?
And I think in that scenario weprobably will see people come
out of grad school with aspecific label, if you will, of
a cancer genetic counselor, andthen I would think probably
(07:35):
degenerative neurologic diseaseswould be like another whole
category and I know that's beenan argument that's been made
against just widespread testing.
Speaker 1 (07:45):
because why do you want to know that you're going
to say have Huntington's, koreaor something, necessarily when
there's nothing that can be done?
Speaker 2 (07:56):
Sure, and I think there are, in that setting of
pros and cons of genetic testing, in that setting of pros and
cons of genetic testing, and youknow, I will freely admit I'm
biased, given my profession andmy interest in this I have a
bias toward knowledge is power.
Speaker 1 (08:13):
Yes.
Speaker 2 (08:14):
And that by knowing this may or may not impact the
health care that I receive orwhat the ultimate transition of
my care looks like for acondition like Huntington's
where there's not knowneffective treatment to reverse
the disease, but it gives me anopportunity to live my life,
(08:37):
knowing something that maychange how I live my life and
how I set.
Maybe do I have children, andif I do, what is my legacy to
them, and so I think that'sagain from a place of bias, of
viewing it from a positive lens.
(08:58):
But I can certainly appreciatewhere, for certain patients,
that creates anxiety and worryand to a point where that's
debilitating and impedes theirquality of life, and in that
scenario I would argue nogenetic testing isn't
appropriate or isn't maybe thebest scenario for that patient.
(09:19):
And so certainly it's in manyrespects a conversation about
not just, do you qualify forthis, but is this something
we're prepared to take on andintegrate into our lives?
Speaker 1 (09:36):
So, as all this multi-sequencing becomes cheaper
and more expansive, do youthink we'll ever get to a point
where everybody has germlineevaluations?
Speaker 2 (09:50):
that's a good question.
Do I think we will get to thatpoint?
Yes, do I think we're at thatpoint today?
No, and I don't even think it'sa fiscal argument.
To be honest, I think a lot ofit is.
We don't yet know enough aboutthe genetic contributors for
(10:11):
some of these common diseases.
One in eight women developbreast cancer in their lifetime,
and at present we believe thatabout 10% of those cases are due
to a hereditary cause, and so,from a public health model, I
(10:35):
don't think that's a good model,because you run the risk of a
significant number of womentesting negative for one of
these traits but still having avery meaningful risk to develop
the disease, and the concern Ihave in that model is sure for
every one patient you identifywith a hereditary risk.
(10:55):
There are hundreds of women whotest negative and may not
understand the fullramifications of that and
perhaps go to a world of loweredsurveillance that isn't
clinically appropriate you know,back in the 90s with you know,
(11:25):
BRCA testing, and I've been toSalt Lake City and looked at
Myriad's lab and followed someof the litigation and then the
expansion, and I have a largepractice of women who have
inherited mutations, some highlypenetrant, some not as much.
Speaker 1 (11:40):
But it really does inform the risk stratification
and choices that are made.
And initially, when this cameon the forefront, patients were
petrified to have testing.
They were afraid they wouldlose medical insurance or life
insurance or that they would beshunned.
And I think that we've reallyadvanced well beyond that and I
(12:02):
have many mutation carriersliving full lives and doing very
, very well and just kind oftaking it in stride like
anything else.
I don't think it's asoverwhelming or scary as it used
to be.
Um, tell us just in general how, uh like before the visit, at
(12:25):
the visit, a lot of patientsthink they can just say I want
genetic testing and that theycan just get it ordered.
And that's not really like justgoing in for a blood test.
It's not as simple as like Iwant to know what my fasting
cholesterol is.
Sure.
Speaker 2 (12:39):
Yeah.
So you're right in that I thinksome of the fear and stigma
surrounding genetics and diseasehas appropriately dissipated as
we learn more, and so Icouldn't agree with you more
there.
As far as the process, whatdoes that look like?
Well, typically we would startwith initial consultation and at
(13:03):
that time reviewing thepatient's personal history.
Have they themselves ever had acancer diagnosis?
What are they doing now inregards to their cancer
screenings, as well as adetailed discussion about their
family history.
And are there different cancerdiagnoses?
What type of cancer?
(13:24):
When did those cancers occur inthose patients, in those family
members?
And part of that, sure, istrying to determine what is the
likelihood of a mutation.
And in some levels you can kindof distill that down to is
insurance going to cover thistest or not?
(13:44):
But I think there's a littlemore nuance to it in the sense
that are there aspects of thepatient's personal and or family
history that, just at baseline,that in and of itself should
indicate a differentsurveillance program, and are
just at baseline?
Are there things that we shouldbe looking at in terms of
(14:06):
referral?
But at that time, if we look atthat personal and family
history and say, yeah, thislooks to have a significant
potential to be genetic.
How would we figure that out?
Most typically, we would do ablood test.
Certainly, there are ways whereyou can do it as a saliva test
(14:27):
or a cheek swab, or even a skinbiopsy in very rare scenarios,
but most commonly it's a bloodtest.
Speaker 1 (14:33):
Like those persons who have, like
myeloproliferative disorderswhere you can't just draw their
blood.
Speaker 2 (14:39):
Correct.
So if a patient has leukemiaright like so, am I testing
their genetics or am I testingtheir leukemia's genetics?
Exactly, and so in that case wewould want a different specimen
source, but but by and large wewould look at a blood test and
we have had several priorpodcasts in our last few seasons
and we have had several priorpodcasts.
Speaker 1 (14:59):
In our last few seasons I've interviewed Dr
Holly Peterson who formerlydirected our medical breast
because she deals with high-riskpatients, and that was a very
interesting discussion.
I've had my son, stetsonThacker, who's a PhD in
molecular medicine and cancergenetics and he's very involved
(15:20):
in the genetics world.
In fact, sometimes listening tohim like everything is genetic,
it's like I'm like, okay, thiskind of is going down a bad
pathway here to say thateverything is predetermined,
which of course it is not, andeven people with highly
penetrant problems don't alldevelop cancer or cardiovascular
(15:41):
disease, you know, or otherother potentially heritable
conditions necessarily.
So I think that's importantthat people do have agency and
do have options and choices.
I got interested in the GINAlaw actually and you're actually
(16:01):
listening to the SpeakingWomen's Health podcast.
I am interviewing geneticistRyan Noss about genetic testing
and the law and I was veryinterested in the GINA law
personally because I recentlyhad a family member who was
diagnosed with a cancer thatlooked like Lynch syndrome and
(16:27):
the female relatives in myfamily my mother died very young
of an unrelated illness and hermother died very young of a
cancer which in retrospect couldhave been Lynch, and so I
thought, well, like my sonStetson's oh, mom, you're too
old.
I mean if you had this, youwould have already had cancer.
I'm like, probably.
I mean, that's one thing aboutgetting older the older you are,
(16:50):
the less likely it is thatyou've had a highly penetrant
genetic lesion.
However, I still have patientswho are otherwise healthy and
have good health habits andthere's other cofactors who
don't.
But what really drove me to gettested was I have three sons and
some of my sons have children,including female children, uh,
(17:14):
of which you know, uterinecancer, ovarian cancer, breast
cancer and then, of course, forboth sexes, skin cancers, colon
cancer, screenings etc wouldhave an impact, and when I went
through the whole process, itwas very interesting.
I was able to do it remotely,which is nice.
It seems like there's a hugebacklog in services and it was
(17:38):
really great.
Informed consent and the wholeprocess I thought was really
nice and smooth.
But the questions that I had Iknew what would happen with me
personally, what I would have todecide to do if I was positive
and the test, as they explainedto me, could be positive, which
means you have it negative, oryou could have a variant of
(18:00):
unknown significance.
Those are like your threechoices, right.
And so when I got my resultsback, I was very happy and
relieved, especially for myoffspring and grandchildren,
that I was negative.
For that.
That's great For that.
And then, of course, I have aVUS, which of course, I told my
son and he started laughing Haha ha, that's so funny.
(18:20):
Of course, which do you want totell us about VUSs.
I think it's benign.
I'm not losing any sleep, butthat goes to show the more you
do testing, you can find thingsthat you don't know what they
mean and for a lot of peoplethat can cause a lot of anxiety.
Speaker 2 (18:37):
Well, absolutely, and so to kind of define what a
variant of unknown significanceis.
So I like to like even take astep back for a moment of what
is a gene, the way I wouldencourage a patient to try to
visualize a gene, because I meanspoiler alert I've been doing
this for 12 years.
(18:59):
I've never seen a gene with myeyes, my eyes, I've never seen
one, and and so it's not pantsthat you wear, that just fit
perfectly.
No, no, it's not my Wranglers,it's not my Wranglers, it's um,
you know, and, and so I like totry to encourage a patient to
picture it.
And and how I visualize it isit's a set of instructions
(19:20):
telling my body how to do a task.
And so if we think of it asthis written code and a negative
result means, well, the code iseither spelled exactly how it's
supposed to and I'm going toput in air quotes normal meaning
.
It looks the way in which weexpect that sequence to look.
(19:41):
Now, a positive result or apathogenic result is where
there's a difference in thatgenetic sequence.
That's clearly impacting thoseinstructions.
So if I deleted steps out of aninstruction manual, I think
(20:02):
it's easy to picture how thatwould lead to the job not being
done correctly.
Versus a variant is saying well,it's different.
The way in which this iswritten in your makeup is
different than in this.
Again, normal or expectedversion.
Normal or expected version.
(20:27):
But whether or not it trulyalters those instructions,
whether or not it causes harm,is not known, and that can be
for a variety of reasons.
A lot of times it's becausewe've not, the scientific
community hasn't observed thatspecific variant enough times to
really get a proper clinicalcontext for it and that's why
it's important to note it.
Speaker 1 (20:47):
And these companies that do the testing.
They keep big databases andthat's very important for, you
know, future advances.
When I had getting my informedconsent to decide to get the
testing, I wanted to prepare inadvance, you know, for, like I
always do with my patients,let's plan for the worst and
(21:08):
hope for the best with justeverything that we do, because
you just don't want to becavalier.
So I already knew what I woulddo personally.
But I was concerned about myoffspring, who are young and
healthy, not even at the age ofstarting any cancer screening
early, but how that might affectthem.
I mean, I know for myself, orif you're established, you can't
(21:29):
be discriminated.
You know, medically,insurance-wise, etc.
But when I found out that ifyou have really young children,
certainly they don't need to beburdened with it when they're
not even adults, but if they'rejust starting their career or
they don't have life insurancemaybe, or if they're going to be
in the military right or be ina very small company under 10
(21:52):
employees, so tell me about justthe current state of legalities
.
You know, we're kind of at theend of 2024, and this may air in
season three in 2025.
So at this point in time andthen you're always welcome to
come back when there's majorchanges or other things that we
(22:12):
don't get to finish talking-about.
Speaker 2 (22:14):
Of course, I would love to come back.
Speaker 1 (22:15):
But talk a little bit about some of the legal
implications that you have toimpart to your patients.
Speaker 2 (22:22):
Sure.
So you had mentioned earlierGINA and a law called GINA, and
essentially that's an acronymfor Genetic Information
Non-Discrimination Act, and thiswas a bill that was signed into
law in 2008.
And essentially it was built offof the Americans with
(22:44):
Disabilities Act and and so, asyou were kind of alluding to
these like carve-outs and partof it is it's similar carve-outs
, as was part of ADA, butessentially what that law was
putting in place is protections.
(23:07):
Putting in place is protectionsfor a patient from their
employer as well as from theirhealth insurer and that would
mean both their current as wellas hypothetical future employer
health insurer and stating thatthey cannot ask to obtain this
information, they're not allowedto act upon this information in
in the sense that I can't bedenied a promotion because I
(23:29):
have a genetic condition, um, orfrom a health insurance.
I can't be dropped from thatplan or have my premiums or
deductibles changed when I applyfor a new health insurance.
I'm they're not allowed to askme if I've ever had any of this
to establish what my plan shouldlook like.
Again, you alluded to the ideathat there are some areas where
(23:55):
there may be I hesitate to sayloopholes, but there are
certainly scenarios where itdoesn't apply to all people, and
part of that is again in linewith the Americans with
Disabilities Act, where forsmaller employees, those that
have less than 10 employees,there aren't the same level of
protections, as well as those inactive military there are not
(24:21):
necessarily the same level ofprotections, as well as.
Speaker 1 (24:24):
And does that have anything to do with the physical
fitness status, like, say, youhad an inherited cardiac
condition?
Speaker 2 (24:32):
I believe that would be the argument.
Yes, and actually what'sinteresting is I don't fully
understand how this works in theworld of athletics, but we have
certainly seen certain athletes, especially in the in in
basketball, that have beenflagged as having potential
(24:53):
cardiovascular related concernsand that then impede impacts
their their draft status.
So I don't know all of thelegalities of that.
Like Marfan syndrome, they'rereally tall, Exactly.
Speaker 1 (25:02):
Wide arms fans their draft status, so I don't know
all of the legalities of that.
Like Marfan, syndrome.
Speaker 2 (25:04):
They're really tall, exactly yeah, and have really
wide arms for fans.
Yeah, and which would make thema phenomenal defender Right,
the problem being they're alsoat significant risk for an
aneurysm.
Speaker 1 (25:16):
Yes.
Speaker 2 (25:17):
And so there's catastrophic health concerns
surrounding it.
I'm blanking on his name now,but there was a basketball
player at Baylor who wasprojected to be a lottery pick
and ended up being identified ashaving Marfan syndrome prior to
the draft and actually wentundrafted Wow.
So I don't exactly know all ofthe legalities of that.
(25:38):
I'm going to admit I don't knowthat.
The other important thing tothink about with it is some of
these communities have otherprotections or other bylaws and
rules within their owncircumstances and then, like a
(25:59):
lesser known one, or at leastone that doesn't impact us here
in Cleveland as much as, givenour demographics but American
Indians or indigenous peoplealso don't fall under that same
in terms of, like the nationallyprovided health care.
Speaker 1 (26:23):
And again, I'm not going to begin to try to unpack
that one.
So then, in general, what doyou recommend for your patients
that might have BRCA gene or ATMor CHECK or BRIP or?
all these expanding mutationsthat have variable risk for
breast cancer, ovarian cancer,colon cancer, pancreatic cancer,
(26:43):
prostate cancer.
Obviously, if somebody is anadult and they're established,
they need to know if they havethis so that they can start
screening and they don't dieprematurely when it could have
been stopped.
But for their offspring, ingeneral you say, wait till 18,
21 or 25.
When they're established,they've decided whether they're
in the military or not.
(27:03):
They decided whether they'regoing to be in a super small
business or not.
Sure.
Speaker 2 (27:07):
I mean, that's a really great question, and to me
there are a couple when I thinkabout testing the next
generation.
To me there are a handful oftime periods that I would think
about.
One of them is and I wouldargue this is probably the most
(27:28):
important one is what is the agein which your medical care will
be altered?
And so, if it's a conditionwhere that would alter a minor's
health care, we may look atgenetic testing prior to the age
of 18, so that we know thatwe're following them
appropriately.
Speaker 1 (27:48):
And what would be some examples of those
conditions?
Speaker 2 (27:50):
Sure.
So an example of that would beFAP, or familial adenomatous
polyposis, which is due to agene called APC, where the risk
of colon cancer is significant,even in young people, and so we
do recommend colonoscopies inpatients under the age of 18.
(28:14):
And in that scenario, you know,certainly as a parent, I might
be more inclined to saying well,do you actually have this
before I subject you?
Speaker 1 (28:24):
to a colonoscopy screening.
Speaker 2 (28:25):
Yes, Right, Right.
So that would be a scenariothat I might think about it
prior to the age of consent.
But if we're saying no, yourcare is not going to be altered
as a minor, Well, ultimately wewe want the next generation to
be independent contributors tosociety that are capable of
(28:49):
making their own decisions.
Speaker 1 (28:50):
And should be afforded informed consent, which
minors really can't.
Speaker 2 (28:53):
Exactly, and autonomy and all of those things, and so
in that sense I wouldn't wantto test them until they were at
least 18.
Test them until they were atleast 18.
Now, I don't exactly know whatmagic happens that night when
you go, you're 17 and then youfall asleep, and then you wake
up and you're 18 and somehowyou're now all knowing.
I don't exactly know what magichappens, but certainly that's
(29:16):
an age where we would thinkabout testing.
Speaker 1 (29:19):
Well, certainly so many things legally change, like
I know the moment my childrenbecame 18.
They signed, you know, they hada power of attorney and their
health care directives because,as a parent, you're no longer
technically legally over them interms of making you know
medical decisions, in terms ofan emergency, so I guess that's
(29:40):
why that would be a time period.
Speaker 2 (29:41):
Yeah, the law, the law would support that yeah um,
but you're.
but there's a little bit morenuances to it too, as you kind
of alluded to.
As far as you know again, if so, let's say, my 18 year old
(30:01):
could have Lynch syndrome.
Well, they're 18, they're anadult, they can consent to that
test if they want.
Through Gina, they would haveprotection from a health
insurance perspective, from anemployer perspective, but
there's not universal protectionwhen it comes to other forms of
(30:24):
insurance, so things like lifeinsurance, because what happens
is that genetic test resultbecomes part of that person's
medical record.
Speaker 1 (30:32):
Yes, yes.
Speaker 2 (30:34):
And when a person applies for life insurance, it
is within that company's rightsto ask to obtain your medical
records and use those todetermine what your plan should
be Now.
What?
Speaker 1 (30:48):
about if, say, the adult, the young adult, knows
that one of their parents ispositive, but they don't know
their own results?
Can that insurance company haveto obtain that information?
Speaker 2 (31:05):
It's a little stickier and part of it is
depends on how exactly that'scategorized, even within their
medical record.
But it's also a theoreticalrisk versus a known risk which
would be weighted differently.
Speaker 1 (31:20):
And then what about marriage, childbearing, et
cetera?
Because if someone knows,they're not going to start a
family until, say, 30, eventhough I always encourage people
.
Your gametes are getting olderfaster than you think you are,
and it's better to reproduceearlier rather than later but
that's a whole other podcast.
(31:41):
If someone's not immediatelygoing to need that screening for
that condition and they're notplanning to start a family with
those kinds of implications yet,then they have a little more
time.
Speaker 2 (31:55):
Sure, sure and, and I suppose the other, the devil's
advocate to that is not everypregnancy is a planned pregnancy
.
Speaker 1 (32:03):
Exactly, exactly.
Speaker 2 (32:04):
But I think that's where you know you have to.
Fortunately, my children arestill second grade and younger,
so I haven't had to have thosetypes of conversations yet.
Speaker 1 (32:15):
You will.
Speaker 2 (32:17):
I, I, I, unfortunately, unfortunately,
whatever I will, but you know, Ithink again.
You're right, though that thatfamily planning is another time
period where we would considertesting.
You know, ultimately, what Iwould encourage that young adult
to consider would be obtaininglife insurance prior to genetic
(32:40):
testing.
Speaker 1 (32:41):
Yes, and that's the way that I was, you know, going
to proceed, you know, with myadult children, which I always
told them anyway, it's a lotlower premiums to do it when
you're younger.
And if you're young and buyinga house and starting a family,
getting married and have debt,you know you really should have
life insurance.
But I guess that's anotherwhole financial topic.
Speaker 2 (33:03):
Yeah, yeah, now we're .
Now we're going way into theweeds.
Speaker 1 (33:06):
Yes, of like life planning.
But you know, knowledge is ispower.
One thing that I see with a lotof my female patients, many of
them who have, you know, variousrisk for cancer and are dealing
with it themselves.
Some have had surgeries likehysterectomiesectomies,
colonoscopies, more frequent,frequent doctor visits, more
(33:28):
intense surveillance, asrecommended for their individual
situation.
That I've noticed with theiroffspring that their female
children are a lot more likelyto pursue the genetic testing
than their adult male children.
And obviously males cannot getovarian or uterine cancer.
Of course rarely they can havebreast cancer and we sometimes
(33:51):
do see that in men, geneticallywho have BRCA gene et cetera.
But I don't know how much ofthat is just cultural that men
just don't seek medical services.
But they can have daughters.
They can have prostate cancerand pancreatic cancer and colon
cancer too.
Speaker 2 (34:08):
Oh, absolutely, and I think it's a.
I, as a male, have somethoughts or feelings around all
of that, in the sense that I dothink to an extent there are
some myths that when we thinkabout conditions like BRCA, that
disproportionately the thecancer risks are
(34:29):
disproportionately higher inwomen than in men yes.
I think there's almost a amisconception of it being sex
linked yes, in the sense of likea woman can only pass it to a
woman, which is not true, ofcourse, and and so I think
there's almost even just thisneed, like a certain level of
education that needs to comeinto play, of even making sure
(34:51):
the patient's aware that theirsons could carry this trait.
Um, and and also to your point,men, yes, the risks are
significantly different in menand women in terms of breast
cancer, but it is a disease thatcould impact a male.
Um, I have to imagine, I thinksome of it is are those
(35:11):
misconceptions, but I think youalso tapped into something where
there are a whole host of Iknow we're speaking of women's
health in this podcast but butwomen take care of their family
speaking of men's health, Ithink there's a whole, there's a
whole litany of research thatshows men's health lags behind
(35:33):
women's health in terms ofproactive seeking, proactive
care.
yes, and and I think this isprobably part of it yeah, yeah,
same song, different verse interms of why maybe the male the
uptake of testing is lower inmen than women.
Speaker 1 (35:49):
And you know how reliable are these tests Because
of course we know you can get ablood pressure, you can get a
blood sugar and there's so manydifferent things that can affect
it.
There's lab error with justregular blood tests that we do
and we a lot of times willrepeat things with just regular
blood tests that we do and we alot of times we'll repeat things
.
Speaker 2 (36:11):
No, absolutely so.
When we think about the abilityfor these labs to produce what
your genetic sequence or yourgenetic code is, it's highly
accurate, highly reliable.
We're talking sensitivityspecificities of 99.5 to 99.9
percent accuracy.
And there is CLIA, which is alab certification body that any
(36:33):
of the medical commercial labsneed to have that type of.
They need CLIA certification inorder to offer their testing.
So there's certainly a lot ofthings in place to ensure
reliability of results.
I think to your personalexperience of well, it
(36:56):
identified a VUS.
I mean, I think that's adifferent beast to it in the
sense of it was highly reliablein its ability to tell us what
your sequence was.
Speaker 1 (37:06):
Yes.
Speaker 2 (37:07):
But there is certainly a limitation from a
clinical interpretationperspective that may lead to
those types of findings.
Not so much that I think it'san inaccurate finding, but it
may not still be a satisfyingfinding.
Speaker 1 (37:30):
And I have some patients that are very
cost-focused, and obviouslythere's a cost for consultation
with a geneticist, which needsto be done before doing genetic
testing.
I have some patients who wantto just go straight to the
Invitae panel or just pay for itthemselves.
And what kind of comments doyou have about that process?
Sure, so.
Speaker 2 (37:51):
I think there are certain levels of misconception
about insurance coverage andgenetic testing, insurance
coverage and genetic testing andthat I think some patients
there's a certain level ofapprehension to pursue it
because they're afraid theythemselves are going to be
(38:11):
responsible for, you know,thousands upon thousands of
dollars of bills, which,honestly, is not the case.
That when done through aclinical setting where it's a
knowledgeable provider, the samelevels of assessment that we're
(38:34):
using to try to say, well, whatis the likelihood of there
being a mutation present, havebecome for mostly for better um
have been adopted by insurancecompanies as well to determine
what are scenarios where theywould cover testing.
So, by and large, when agenetic counselor would say to a
(38:57):
patient yes, this is aclinically appropriate test to
do, yes, this is a clinicallyappropriate test to do.
Speaker 1 (39:07):
The insurance company would agree with.
Yes, yes, and so it's it's.
It's smooth in that regard.
So I really appreciate youjoining us.
Uh, ryan, because this has beenso enlightening, we'll have to
have you back because there's somany other topics that we
didn't get to.
I really appreciate you takingtime from your really busy
schedule and I want to thank ourlisteners for tuning in.
(39:31):
We're so grateful for yoursupport.
Please leave us a five-starrating, if you would, and you
can forward this to your friendsand family.
A five-star rating if you would, and you can forward this to
your friends and family.
If you don't already subscribe,please hit the subscribe or
follow button and then you won'tmiss any future episodes.
(39:52):
And thank you again for joiningus in the Sunflower House and
I'll look forward to seeing youagain.
Be strong, be healthy and be incharge.
Popular Podcasts
40s and Free Agents: NFL Draft Season
Daniel Jeremiah of Move the Sticks and Gregg Rosenthal of NFL Daily join forces to break down every team's needs this offseason.
Dateline NBC
Current and classic episodes, featuring compelling true-crime mysteries, powerful documentaries and in-depth investigations. Follow now to get the latest episodes of Dateline NBC completely free, or subscribe to Dateline Premium for ad-free listening and exclusive bonus content: DatelinePremium.com
Las Culturistas with Matt Rogers and Bowen Yang
Ding dong! Join your culture consultants, Matt Rogers and Bowen Yang, on an unforgettable journey into the beating heart of CULTURE. Alongside sizzling special guests, they GET INTO the hottest pop-culture moments of the day and the formative cultural experiences that turned them into Culturistas. Produced by the Big Money Players Network and iHeartRadio.