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Welcome to “Should I Call a Doctor?” The podcast where we dive into trending health topics to separate fact from fiction. We bring in experts to talk about all things health, to empower you with knowledge and answer your questions hosted by Inova Health.
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Welcome to should I Call a
Doctor, the podcast where we
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dive into the questions you have
about your health and today's
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trending health topics to
separate fact from fiction.
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I'm one of your hosts, Doctor
Samuel Gauley, an internal
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medicine physician at Inova.
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I'm Tracy Schroeder.
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I lead communications for Inova.
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Doctor Sam will give you the
clinical perspective while I ask
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the questions that keep patients
up at night.
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Today, we are happy to introduce
Elizabeth Stark, who's a
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licensed board certified genetic
counselor here at Inova,
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specializing specifically in
cancer prevention and has over
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fifteen years of experience.
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Um, Beth, I'm going to let you
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tell us a little bit more about
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yourself.
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Yeah, no, thank you so much.
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So I started with genetics, a
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really strong interest in
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genetics.
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And I said, you know what?
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I'm going to do anything but
cancer because everyone I've
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ever met with cancer has died.
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But then I was introduced to
this idea of cancer prevention,
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and that was life changing.
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To really understand that there
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are things that we can learn
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about ourselves and actually put
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into play to reduce or prevent
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cancer altogether.
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It was just so exciting.
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And so I started off in San
Francisco, then moved out and
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was at GW.
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And then when Doctor Coltman
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opened the Saville Center here
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focused completely on cancer
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prevention.
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That was something I couldn't
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pass up a chance to be a part
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of.
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So could you tell us what you
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said when I discovered cancer
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prevention?
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Tell us a little bit more about
that.
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Why do some families have more
cancer than others?
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And I'd known that I'd
experienced that.
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I'd seen that, but I'd never
really thought about the why.
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You know, just like, oh, bad
luck.
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Like, what are you going to do?
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But when I really learned that
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there are actual tests that you
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can take to learn about your
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individual risk, about your
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family's risk, but not only
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that, there are actions you can
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pair with that to reduce cancer,
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to catch it early, to really
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kind of change a story, a
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family's trajectory.
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It was just one of those things
that I'd never, I never
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considered and was really
excited to see, well, how can I
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help others understand this and
maybe change their family story?
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Can you define it for us?
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So genetic testing, obviously, I
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think to a lot of people
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probably have read a lot about
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it.
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And I think most people probably
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get a general sense of what it
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is.
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I would be like, is it a blood
test?
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Are you looking at my DNA?
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Tell us a little bit more about
it.
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There's a lot of different
genetic testing, actually.
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So what I focus on is called
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germline genetic testing,
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specifically focused on cancer
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risk.
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You can do genetic testing for
cardiovascular disease.
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There's a lot of prenatal
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genetic testing that people have
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heard about or carrier
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screening.
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But when we talk about cancer
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genetics, what we're talking
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about is looking at your tumor
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suppressor genes.
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So we've actually got about
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twenty thousand genes that
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determine all sorts of things
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how tall you are, how your heart
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forms.
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But there's this group of tumor
suppressor genes that are
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responsible for helping to
protect you from cancer.
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So they make a protein that will
help regulate cell division.
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It'll help fix mistakes in DNA.
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And these tumor suppressor genes
come in pairs.
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You get one from your mom, you
get one from your dad.
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And again, they're making that
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protein that's helping to
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protect you.
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Well, we know some people are
born with a change or a mutation
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on one copy.
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So you're born with only one
working copy of that tumor
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suppressor gene, and that's in
every cell of your body.
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The good news is one is enough.
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You only need one working copy.
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The bad news is you don't have a
backup plan.
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If something happens to that one
copy, it's just more likely that
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you'll develop cancer.
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So that's the kind of thing that
we look for.
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Patterns in families we look to
see.
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Has someone had more than one
cancer?
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Has someone been diagnosed at a
younger age?
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Are there multiple generations
affected with cancer?
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All of those are just kind of
the clues that there could be
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something going on.
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Mhm.
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And are there when you think
about like, which cancers are
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there genetic markers that are
associated with colon or
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pancreatic or breast or lung
that you're testing for them
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differently, or do they all show
up the same?
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How does how do you think about
that?
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So we've moved on to something
that's called multi gene panels.
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And so we are commonly looking
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at the most common causes of
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breast ovarian colon, uterine
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pancreas, melanoma, prostate,
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kidney cancers.
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Let's say we're a little bit
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more at the beginnings of the
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blood cancers like leukemia and
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lymphoma.
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We're starting to get there.
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But I don't think we have as
good of an understanding.
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But typically when we talk about
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doing some genetic testing,
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which to your point earlier, we
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can do a blood draw or a saliva
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sample.
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Okay.
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Um, when we do that, we're
really kind of looking at all of
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them to, to try and come up with
a better plan.
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So I'm sure you deal with this a
lot with genetic testing, and
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maybe there isn't a one size
fits all answer, but I guess how
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reliable is genetic testing is?
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And what is the maybe standard
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way that you act depending on a
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result.
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Is it something along the lines
of, hey, you have a five percent
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risk of X and stop smoking?
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Or is it, oh, you are guaranteed
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to get X or you know what I
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mean?
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Yeah, well, we're gonna tell
everyone to stop smoking, so
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we'll start there.
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But.
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Right.
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Good point.
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But when we think about these
different genes, they do come
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with different risks.
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And that's the underlying
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question is what is your
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individual risk.
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There are some genes that if you
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have a change on it, you have a
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very high risk of getting
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cancer.
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We're talking about eighty five
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percent chance of developing
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cancer.
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So let me just make sure I'm
understanding that.
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So if the gene either mutates at
birth, um, or mutates in some
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other, some other way, that's
when the cancer risk increases.
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So the stuff we're talking about
germline risk you're born with.
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Okay, so it's either passed
down.
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There is something called de
novo, which is brand new in you.
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Okay.
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The vast majority of what we're
dealing with was inherited from
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one of your parents.
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Okay.
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Okay.
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And it's in every cell of your
body.
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Head to toe.
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And it stays consistent that way
through your whole life.
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Yep.
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Okay.
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Exactly.
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And then it can interplay with
environmental factors.
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So a lot of people have heard
about BRCA one and BRCA two.
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Those are what we call high risk
genes.
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If you have a mutation in one of
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those genes, you have a really
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elevated risk of developing
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cancer.
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Now there's also a handful of
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what we call moderate increased
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risk genes.
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That's like something like
Chek2, for example.
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Is there evidence that that
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raises your risk of developing
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cancer?
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Yes.
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But we're usually talking more
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about like twenty percent risk,
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not eighty five percent lifetime
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risk.
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Could you give an example of
what would be the counseling
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that gives you a twenty percent
risk of cancer?
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Yeah, absolutely.
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So different genes that if you
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have mutations on them, they're
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associated with different cancer
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risks.
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So if someone has a moderately
increased risk of developing
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breast cancer, for example.
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Well we're going to talk about
maybe starting a little bit
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younger with our breast imaging.
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Maybe we'll talk about adding in
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breast MRI, which not every
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woman needs.
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Maybe we'll talk about doing a
clinical breast exam a little
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bit more often.
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It's really about tailoring the
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plan but looking at the whole
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picture.
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So like you said, sometimes
lifestyle is going to become
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even more important.
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Maybe we're really going to dial
in those factors that we know
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also impact breast cancer risk.
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We're going to look at family
history.
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We're going to look at you
individually.
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Breast density plays a role.
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We know sometimes those extra
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tools are more beneficial for
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people with a specific breast
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density.
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So it's really about
customizing.
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It's another data point that
your doctors can use to help
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personalize your plan.
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And just make sure we're taking
good care of you.
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What's your advice to people on
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who should be looking into
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genetic testing?
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Because I'm sure it's not
something everyone needs to do.
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I'm sure it provides comfort,
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but it probably also provides
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anxiety.
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And so how do you recommend
people balance that as they
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consider if genetic testing is
something they want to pursue?
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I think you're getting to a
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really important point and
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that's everybody is a little bit
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different.
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And it's important to know how
you understand information and
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how you interpret that.
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Now, there are some people that
come in and they're like,
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knowledge is power.
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I want to know everything.
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In fact, what's keeping me up at
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night is not knowing if I have a
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BRCA mutation.
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I've absolutely met with
families like that.
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Now there's different types of
panels.
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So we have really big panels
that cover all kinds of very
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rare conditions, things that
most people, again, generally
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don't need to be worried about.
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But we also have targeted
smaller panels that are covering
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those high risk genes we
mentioned where you could really
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make some differences if someone
wants to know about that.
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You know, we're here to help
them do that.
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But I think you also have to
look at your family.
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If your entire family is
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overseas or you're adopted, or
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you just don't have any health
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information, that's a different
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situation.
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If your mom has twelve brothers
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and sisters and everyone's lived
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to ninety five and you're all
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around the table together, like
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you have a better odds are in
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your favor.
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Yeah, you have a better
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understanding of what's going
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on.
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Yeah.
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And so excuse me.
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I really think that when we talk
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about this, every person is
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going to be a little bit
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different.
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And that's the beauty of civil.
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We're trying to help get away
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from this one size fits all
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mission to really help people
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understand what's important to
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you, what are your individual
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factors, and how can we use that
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information to better take care
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of you?
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Do you have an example you could
share of a patient who came in
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for exactly this reason.
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So we had a woman that came in
and her mother was diagnosed
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with breast cancer, and she
ultimately passed from that.
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And it's something that had
always kind of just lived in the
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back of her mind, you know,
almost like, oh, when's my turn?
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What is this gonna happen to me?
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Just that dread that.
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Exactly.
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And that's hard.
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That can really weigh on you.
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Mhm.
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She had some family history of
cancer on her father's side,
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but, you know, not as extensive.
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But she decided, you know what?
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This is something that I want to
do.
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This is something that I want to
learn about.
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And so when she came in, she did
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come back with a BRCA one
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mutation.
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We went through we found out she
actually hadn't inherited that
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from her mother.
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She inherited it from her
father.
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Oh, that's so interesting that
you can tell that.
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Yeah.
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And so when we went through this
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process, she's like, this feels
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empowering.
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I have this information that I
wouldn't have had otherwise.
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And now I get to decide.
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I get to decide what are my
options.
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Do I want it to do something a
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little bit more drastic, like a
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preventative surgery?
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Is that going to be on my
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timeline versus cancer's
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timeline?
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And really helped her connect
with her broader family to help
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a lot of other people address
that risk as well.
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Does that in that specific case,
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does she have an increased risk
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now because she's got the BRCA
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gene from her father's side and
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the family history now from her
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mother's side?
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We don't really think of
anything getting much higher
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risk than that.
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BRCA mutation that she carries.
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The risk was just high.
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The risk is high.
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Yeah.
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And then she, I mean, she said
over and over, like, I feel in
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control now I'm able to find a
team that I feel comfortable
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with, and I'm able to address
this on my terms.
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And I think that that's really
empowering.
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Yeah.
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Rather than just waiting around
for it to happen.
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And like in this case, do you
generally and again, I know that
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so many of these questions we're
asking, there's this theme of
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tailored to the individual
patient, but I'll try anyway.
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Yeah.
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Um, do you generally recommend
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then that fellow family members
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get genetic testing if something
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comes back positive, like in
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this case?
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Yeah, absolutely.
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So if we identify a genetic
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mutation in someone, we know
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that their first degree
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relative.
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So their parents, their
siblings, their kids have a
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fifty percent chance of having
that same thing.
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And I think it's always really
important to remember having
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this genetic risk is not a
diagnosis of cancer.
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The genetic testing that we do
is never going to tell you that
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you have cancer.
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It's never going to tell you
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that you're definitely going to
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get cancer.
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But what it might tell us is
that we don't have you on the
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right screening path right now.
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We need to make some changes to
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address what your risk really
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is.
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And so by helping individuals
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talk to their family members,
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again, we're trying to rewrite
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some of those family stories so
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that people can decide for
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themselves.
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Now not everyone chooses to do
genetic testing and that's okay.
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That's why we like people to
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come in for genetic counseling
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so they can have the
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conversation, so they can really
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understand what it is we're
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doing.
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And does the counseling always
precede the testing?
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Typically?
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I mean, some people will go into
like a primary care or to an ob
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gyn and get the testing.
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Hopefully they're having these
conversations.
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But I think especially when
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people are hesitant, I've had a
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lot of people come in and be
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like, I'm here because so and so
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made me.
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I don't want to be here.
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You're like, oh, that's great,
you know?
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So that's actually a very good
question.
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So practical one, the genetic
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testing itself, is it frequently
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done separate from the
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counseling in standard doctor's
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offices?
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Depends on the provider we're
seeing.
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You could do it.
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It's the the advisable things to
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do it under the auspices of
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genetic counseling rather than
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willy nilly.
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But, but from a purely practical
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standpoint, it could be done at
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any office.
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Okay.
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And I know of a civil it's
comprehensive.
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Right?
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It's the counseling, it's the
testing, and it's the plan
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afterwards, the follow up.
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Yeah.
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And I think that that's one of
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those things that's so
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important.
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But what I find is when those
people come in that are a little
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bit more hesitant, there's
oftentimes a little bit of
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misinformation behind it.
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Like, I don't want you to tell
me that I have cancer.
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It's like, I don't want to tell
you that either.
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It's not going to.
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But excuse me, but I think
understanding again, where is
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this coming from?
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What can we do with this
information and what's most
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important to you?
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Mhm.
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Really helping people
understand.
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What do you want to get out of
this?
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And some people, you know, there
can be a lot of fear.
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If you've watched family members
die from cancer.
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Absolutely.
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We know no one is excited to
come see us.
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That's okay.
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We're going to try and make it
as easy as we can, and then
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really give them those tools so
that they can figure it out.
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Now, some people still choose
not to do genetic testing, and
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that's okay too.
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We just want them to have the
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most information so that they
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can make an informed decision
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about that.
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And when someone comes in, are
they usually coming in saying, I
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want to get genetic testing to
see if it increased my if I have
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an increased risk for breast
cancer, or I want to get genetic
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testing to see if I have an
increased risk for anything.
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And how do you approach it?
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Disease specific or do you
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approach it just whole body
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specific?
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I would say that we do typically
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tend to go with multigene
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panels, in part because we find
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surprises.
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You know, I'd say about five
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percent of the time, if someone
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comes in with a known mutation
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in the family, like I know my
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sister has ACS, we do a
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multigene panel, we find Y and
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we didn't know we were looking
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for Y. And that can still result
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us in changing that plan to
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better take care of that
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individual.
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So that's why we tend to do
multigene panels.
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But I have absolutely seen
people where that's not the
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right choice for them.
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They really need to focus just
on one specific cause and to
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rule that out.
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And that's where the
individualization comes in.
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You know, people know how they
handle ambiguous information.
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They know how they handle
anxiety.
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And I think it's important for
people to trust their gut to
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have the conversations.
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But we can order more targeted
panels.
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We are just going to talk about
breast cancer today.
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We're just going to talk about
colon cancer today.
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Um, but it depends a little bit
on the individual.
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Yeah.
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And so it's to me that's so
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valuable to understand that this
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is not just about doing the
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tests, but it's the pre and post
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conversation that come with the
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test, make all the difference in
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the world and how you're going
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to emotionally react to it and
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then practically handle that
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information, like what are the
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steps you're actually going to
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take?
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So for me, that's an important
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takeaway and thank you for
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clarifying that.
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And to that end, how long are
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the patients normally staying
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with you?
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If they are like somebody
listening, they're like, okay, I
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think I should do this.
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They reach out, they make an
appointment, they meet with you
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guys, they get the testing done.
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Then there's the planning phase.
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I don't know how.
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Give us a sense of like, what's
the timeline of the process?
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And then how are they sort of
like, okay, I've got my plan now
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off I go.
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Or are you staying in touch with
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them over a longer period of
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time?
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That's a great question.
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And again, you're going to hear
this theme.
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It really comes down to the
individuals and what they have.
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There are people that come in.
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So we do the genetic testing.
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It takes about two to three
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weeks for those results to get
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back.
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We talk about them in civil.
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You then have a follow up
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appointment with one of our
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civil providers who are going to
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help you put that plan into
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action.
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And so for some people, it's
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just starting off that process
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right now.
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It could just mean, as you said
earlier, increased screenings.
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Exactly.
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And then maybe that's something
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you can do with your primary
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care provider.
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You know, maybe I just want you
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to get that breast MRI and get a
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skin check with the
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dermatologist.
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That's something that you can
handle outside.
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There are some plans that come
back that are a little bit more
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extensive, that require more
close follow up.
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There are some genetic changes
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that we're still learning about,
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and we want you to come back
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every year because we think that
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those recommendations might
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change.
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There could be new research
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studies, there could be new
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technologies to try and detect
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that cancer.
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I think a place like Saville is
so unique because again, we're
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giving you the information.
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We're starting off with that
plan, but then we're taking it
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to the next level and helping
you implement that.
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And we have behavioral health.
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So to help support people put
those plans into action, we can
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give you a plan.
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But if you don't follow it, it's
not doing you any good.
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Right?
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So what are identifying some of
those roadblocks?
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We have health coaching
dieticians really trying to look
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at cancer as what it is.
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A number of different factors
coming together.
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Genetics is just one.
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It's the foundation on which the
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rest of the plan is going to be
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built on.
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But we've got to look at
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environment, we've got to look
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at lifestyle, and we've really
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got to give those supports so
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people can have the best
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possible outcomes.
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Is it other practical questions
for for patients.
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Is this something that's covered
by insurance.
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What's the cost structure look
like?
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What does someone have to think
about in terms of if you have a
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strong family history of cancer.
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For most people, genetic testing
is covered by insurance.
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And so when you meet with a
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counselor, they're going to go
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over your family history in
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detail, and they can let you
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know if you meet the National
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Comprehensive Cancer Network,
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the Nccn criteria for testing,
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and sometimes your individual
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insurance plan.
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Those aren't always the same.
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They can help you walk through
that.
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Now, if someone doesn't meet
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that criteria again, maybe
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they're adopted.
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Maybe they're just curious.
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Um, there are a lot of labs that
do offer a self-pay option.
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The most standard one we see is
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two hundred and forty nine
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dollars.
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So it's expensive, but it's not
out of the realm of possible for
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a lot of families.
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And it really just comes down to
how important is this
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information for you.
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Labs have patient assistance
programs.
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I don't want anyone to ever
think that finances insurance
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should come in the way of them
having this information.
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There are really, really good
programs to help.
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If we think that information is
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going to be impactful for your
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care.
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Is there anything on the horizon
future that you are seeing with
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genetic testing that's either
exciting to you, not exciting to
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you, but is coming?
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Oh my gosh, there's always
something.
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I mean, there's been this
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promise of polygenic risk
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scores, you know, for probably
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ten years.
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We know that there are so there
are little changes.
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We think that maybe cumulatively
can add up to a big change, like
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a BRCA mutation.
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We think that there are modifier
genes.
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So just because two people both
have a, you know, Chek2
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mutation, for example, maybe
there are other things that are
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impacting their risk that help
determine if they're higher or
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lower risk than the standard.
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Right now, anyone who comes in
with a mutation, we're kind of
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giving them the same plan.
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I don't think that's going to be
true in the future.
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I think we're going to be able
to drill down a little bit more
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and identify some of those other
things that are impacting risk,
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though we're not there yet.
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And last question from me.
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Um, I feel like this is a
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question no matter what anybody
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talks about.
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Is there any upcoming role or
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current role that you're seeing
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with artificial intelligence in
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all this?
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Oh my gosh, I'm sure artificial
intelligence is helping.
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Um, the variant scientist team,
as they're looking at the DNA
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and trying to figure out what
these mutations mean.
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I mean, even the technology that
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we're seeing, if we started out
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with just DNA sequencing, it's a
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little bit like a spell check on
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your DNA, just looking for any
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misspellings.
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Well, then we discovered
rearrangement analysis, right?
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Like if a whole paragraph is
deleted, uh, spell check
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couldn't find that.
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Then we started looking at RNA
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and that's actually looking at
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the introns.
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We were only looking at the
exons before.
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I think it's important to
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remember that your DNA isn't
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changing.
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What you're born with is what
you're born with.
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But sometimes our ability to
look at it changes.
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Our Technology is not perfect.
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Now, there are absolutely
families out there with striking
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family histories of cancer.
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We do genetic testing and
everything looks perfect.
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That doesn't mean that person
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doesn't need to be followed more
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closely.
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It means our test isn't good
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enough today to explain what's
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going on.
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Yeah.
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And so I think that as AI comes
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up, I think as we learn more,
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there's going to be more
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opportunities for us to
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understand some of this in
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different ways.
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Um, but I think on the whole,
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people need to know their family
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histories and know their, their
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gut feeling.
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Is this something I need to be
talking about?
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You know, genetic testing isn't
perfect.
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So we want to make sure we're
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always taking that into
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consideration too.
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We only have a couple of minutes
left.
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What haven't we asked you that
you think is important for
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people to know?
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I think a lot of people get
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nervous about insurance
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discrimination.
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So I want to make sure that
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everyone knows there was a law
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passed in two thousand and
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eight, the Genetic Information
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Nondiscrimination Act, we call
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it Gina.
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And that's excellent protections
for your health insurance.
Speaker:
Now, there are areas that are
not covered life insurance, long
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term care, disability insurance.
Speaker:
We're not seeing people actively
denied, you know, based on that.
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But I want people to know that
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their health insurance is
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absolutely covered.
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This can't be considered
pre-existing.
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Raise your rates, drop your
coverage.
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It's a civilian based law.
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So we have to remember that too,
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that sometimes military have has
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different plans.
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But for the vast majority of
people, your health insurance
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will be impacted by this.
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It's a great point.
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Yeah.
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Thank you so much.
Speaker:
This has been very enlightening
and very helpful.
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Yeah, very nice to meet you.
Speaker:
Yeah, nice to meet you.
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Great conversation.
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Thanks for tuning in.
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We hope you enjoyed this
episode.
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