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. Please remember to subscribe, rate and review this podcast and all of the other BayCare podcasts. For more health tips and updates, follow us on your social channels.

This has been another episode of BayCare HealthChat. I'm Caitlin Whyte. Stay well.