Intro: This is BayCare HealthChat, another podcast
from BayCare Health System.



Caitlin Whyte: Welcome to BayCare HealthChat. I'm Caitlin Whyte.
And in this episode, we will be discussing genetic testing for breast cancer.
Joining us for this critical conversation are Miok Ray, an advanced practice
registered nurse, and Emily Monahan, a physician assistant.



So I'll begin with you, Miok, to go over the more technical side of breast
cancer. We're going to start with genetic testing. You know, I actually had to
get tested for the BRCA gene a couple of years ago. And it was so scary. I'd
never heard of any of this stuff or knew anything about it. So I'm really
excited to do this topic. Tell us first off just what genetic testing is and
when someone should get it.



Miok Ray, APRN: Okay. So genetic testing is a very broad topic.
There's all kinds of genetic testing that we do. But specifically, we're
talking about germline genetic testing when we're dealing with hereditary
cancer syndromes. So these are genes that we all have, and you are probably
familiar with BRCA1 and BRCA2. But there are additional genes that we all carry
that kind of help protect us from cancer cells. And sometimes in certain
families, there is a genetic mutation or an abnormality in one of these cancer
genes that you can pass on from generation to generation. And some genes have a
higher risk for certain types of cancers. So if you're born with a BRCA1
mutation, then it carries a much higher risk for certain types of cancers like breast
and ovarian compared to the average population.



So whenever we see people with breast cancer or just, you know, anybody that's
in a high risk population, we like to test them to see if they have any type of
genetic mutations or hereditary cancer syndrome, so we can appropriately put
them in their risk category and that will determine the type of screenings that
we do and the recommendations that we have.



Caitlin Whyte: And when you say high risk categories, I mean, who
falls into that?



Miok Ray, APRN: So you can fall into a high risk group for
different reasons. Sometimes you're high risk just because you have a family
history of cancers or you may be high risk because of a previous biopsy that
showed precancerous cells. But for genetic testing, when you're high risk, it
means that you have a genetic predisposition for cancers. So if your lifetime
risk is greater than 20% for breast cancer, we consider you high risk.



Caitlin Whyte: So what type of information can we expect to receive
from a genetic test?



Miok Ray, APRN: The genetic testing will give you information about
a group of genes that are linked to different types of cancers. So we test now,
and you said that you've been tested previously for BRCA1 and BRCA2, and we
offer updated testing now because there are other cancer genes that cause
breast cancer other than BRCA1 and BRCA2. And in fact, when we do genetic
testing now, half of the genetic mutations we find are not BRCA1 and 2. So we
were missing half the genetic mutations when we're previously only testing for
BRCA1 and BRCA2. So that's a lot.



So the genetic testing will look at all these cancer genes and look to see if
you have a mutation that is considered harmful or pathogenic, which means that
you have a higher risk of certain types of cancers. It's known to increase the
chances.



Caitlin Whyte: So how reliable is genetic testing? I mean, we get
these results, we're positive or negative for these genes. What does it all
mean?



Miok Ray, APRN: Genetic testing is really reliable. What is not
reliable sometimes is the interpretation of the mutation. So there are
different laboratories that offer genetic testing now. And it's really
important that you take a lab that your doctor trusts and that has a lot of
experience with genetic testing. Because one laboratory may consider a mistake
or an abnormality in a gene, they may consider it harmful, and a different
laboratory may classify that as unknown or a variant of uncertain significance.
And we treat those classifications completely differently. Some people may
recommend a bilateral mastectomy prophylactically based on a genetic test
result. But if you were a laboratory classified that inaccurately, then it may
be an unnecessary surgery.



Caitlin Whyte: And, you know, wrapping up here on again the
technical side, why is it so important to have discussions about women's
health, specifically breast cancer?



Miok Ray, APRN: Yes. I think it's important to talk about it
because a lot of women are higher risk and they don't even know that they're high
risk for certain types of cancers. So unless we talk about family history and genetic
testing and what we can do for earlier screening, that's really helpful in
detecting cancers early, and it may impact the stage that they're diagnosed and
their treatment.



So for example, if you have no risk factors for breast cancer, you typically
start annual screening mammograms at the age of 40. But if you have a strong
family history of cancer or genetic predisposition, you may start annual
screening mammograms at the age of 25 or you may start MRI imaging at the age
of 25. So it greatly changes the screening recommendations.



Caitlin Whyte: We're going to get a bit more personal with you,
Emily. I understand that you have a story yourself about breast cancer. Can you
tell us a bit about that?



Emily Monahan, PA-C, ATC, OTC / Orthopedic Surgery: Yeah. Sure. So,
my breast cancer story is through my family. Both my grandma and my aunt were
diagnosed with breast cancer early in their 40s. My grandma had a mastectomy and
my aunt had a lumpectomy followed by various other treatments. So based on
that, I qualified to see a genetic counselor who then interviewed me and went
through the process. And based on my risk level, did decide that I was eligible
for the genetic testing. So I did undergo genetic testing and that's why you
guys are talking to me to discuss how all of that went.



Caitlin Whyte: Well, yeah. So tell us a bit about, you know, when
you heard that this was in your family and you were a candidate for genetic testing,
how did you feel? Were you fearful at all? I mean, what was the process like
for you?



Emily Monahan, PA-C, ATC, OTC / Orthopedic Surgery: Honestly, no. I
was never fearful. I was kind of the one pushing for it or at least pushing for
the conversations, just because at that point I was in PA school when my aunt
was diagnosed anyway. And I kind of was learning about the importance of
screening and the family history and trends of breast cancer. And I realized
that this was a conversation I needed to be having maybe a little more sternly
with my health care providers. And in doing so, I did realize that, you know, I
qualified for the testing. But to me, it was never fearful. It was kind of like
if I didn't know, that was more scary than getting the results and taking the
health care into my own hands and being able to do something about it earlier
rather than later when there weren't as many options.



Caitlin Whyte: Yeah, exactly. That kind of knowledge is a powerful
thing. You're like, "Do I want to know?" "Yes. I should
know."



Emily Monahan, PA-C, ATC, OTC / Orthopedic Surgery: Yeah. And
that's personal for me. That's how I feel. And not everyone is going to feel
that way, but that's why these kinds of conversations are so important.



Caitlin Whyte: Well, let's talk about that. You know, you mentioned
early detection. Remind us why it's just so important to start those
conversations and early at early ages.



Emily Monahan, PA-C, ATC, OTC / Orthopedic Surgery: Well, with any
cancer, you know, early detection is going to be better than late detection
because the options are better earlier on. There's more of them. The later you
get, you know, there's not as many options for you. So by having the
conversations earlier on and getting the screenings and finding out what your
options are, you can do something about it.



So again, that knowledge is power, taking your health care into your hands and
just getting all the options you possibly can.



Caitlin Whyte: Absolutely. Well, as we wrap up here, Emily, is there
anything else you'd like to share about your journey and just genetic testing
in general?



Emily Monahan, PA-C, ATC, OTC / Orthopedic Surgery: You know, it's
not as scary as you might think it is. It's important to have the
conversations. And I think it's just powerful in general to take your health care
into your hands, to have a little bit of control of what direction your life
might go in regards to your health. And that's just pretty powerful.



Caitlin Whyte: Yeah. I absolutely agree. And that's a good word, it
is powerful. And Miok, same to you, as we wrap up here, any last thoughts?



Miok Ray, APRN: Really, I just want to explain the importance of
genetic testing for even women that have already had breast cancer. Genetic
testing used to be just for family members. So women would get genetic testing
because they had daughters or they were concerned about their granddaughters.
But genetic testing has evolved so much now that we use genetic testing
information to tailor treatments. So there is information that we get from
genetic testing that might impact the type of chemotherapy that you get, the
type of medications that you receive and then surgery that they might recommend
for you. So it is important for a treatment of your cancer diagnosis, but also
for your family members.



Caitlin Whyte: Well, thank you both so much for joining me today.
The information and the stories, both are so compelling and so good to hear. I
hope we can get some more women getting those screenings early just like you
said.



To learn more about breast health and to schedule your mammogram, visit ItsInOurHands.org.
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This has been another episode of BayCare HealthChat. I'm Caitlin Whyte. Stay
well.