Joey Wahler (Host): It can be a major factor in addressing a dreaded disease, so we're discussing genetic testing's role in breast cancer risk and prevention. Our guest, Megan Mortenson. She's a genetic counselor specializing in oncology for WakeMed Cancer Care.

This is WakeMed Voices, a podcast from WakeMed Health and Hospitals in Raleigh, North Carolina. Thanks for listening. I'm Joey Wahler. Hi, Megan. Thanks for joining us.

Megan Mortenson: Glad to be here.

Host: Glad to have you. So first, how important is it, generally speaking, that all women, and men for that matter, with a breast cancer diagnosis be offered genetic testing for hereditary breast cancer genes in the first place?

Megan Mortenson: Well, I, of course, think it's very important. But it's important to know that about 10% of all breast cancer is due to a genetic sequence change that increased the cancer risk of that individual and could be affecting their risk for other cancers as well as the risk to their families. So, it's important for a lot of different reasons. It can help us be more preventative. It can customize care. And it can have great impacts on the rest of the family.

Host: And those who've already been tested, let's say years ago, they may qualify for updated testing, yes?

Megan Mortenson: That is correct. So, we first learned about genes related to breast cancer in the late '90s. The first two genes very nicely were named breast cancer gene one and breast cancer gene two, BRCA1 and BRCA2. And testing for that has been available since the early 2000s, and lots of people have been tested.

Host: Now, genetic testing for breast cancer has really changed during the time since it came into use that you just alluded to, particularly in the last decade, right? So in a nutshell, how would you kind of capsulize what some of the major advances have been?

Megan Mortenson: So, we have learned about a number of other genes that can cause breast cancer to run in families, about 20 different genes, so from 2 to 20. And then, we've also learned more about each one of these genes in a lot more detail and figured out that breast cancer is not the only cancer that these genes are associated with. And finally, we have really learned to customize the care of these people and how best to take care of them and watch them and help prevent cancers.

Host: And new types of cancers are now associated with previously known genes, right?

Megan Mortenson: Yes. Going back to those BRCA1 and BRCA2 genes, they were first identified as being associated with breast cancer and ovarian cancer. We thought the men got out of it. But actually, there's a great deal of risk for prostate cancer and a more aggressive form of that cancer, as well as increased risk for pancreatic cancer and melanoma.

Host: So getting into some specifics here, what factors can genetic testing reveal that may impact breast cancer risk and prevention?

Megan Mortenson: So, if a genetic mutation is identified in a person or family, that information gives us very specific risks related to that cancer mutation as to what body parts we need to be watching more closely. I'll stick with my BRCA example. Women who have a BRCA mutation have a 50-80% lifetime risk for breast cancer and we start watching those women very early at age 25 for breast cancer. They're also at a 30-60% risk of ovarian cancer. And we recommend that those women have their ovaries removed once they've completed their family. They're also at a 10% risk of pancreatic cancer. So, we watch the pancreas. And men with those genetic sequences changes are also at risk for breast cancer and prostate cancer.

Host: So again, it's important to emphasize here that while we're talking mainly about genes and breast cancer, a genetic mutation could in fact indicate other body parts that are at risk.

Megan Mortenson: Absolutely. And that gives us a warning to be watching these other body parts and we can be more preventative.

Host: So, let's talk a little bit about once this information is obtained and there are risks, how does that affect, for instance, treatment?

Megan Mortenson: So if this genetic mutation is identified in a person who already has cancer, one of the main ways that having a mutation identified can help you is it actually can help us customize the care and the chemotherapies and medications we use.

One of the other big ways we've changed in cancer care is we've begun to develop specific treatments based on what is different about the person and different about the tumor. So, BRCA1 and BRCA2 have certain medications that have been specifically developed to target those cancers that are caused by a BRCA mutation. So, that's in somebody who's affected with a cancer.

There are also differences in how we care for somebody who has not had cancer who's identified with a mutation. Management of risk falls into two broad categories. One being increased screening and the other being efforts to reduce that risk. And so, increased screening very logically is watching the body parts that are at risk for cancer closely. In the case of breast cancer, we talk about mammograms and breast MRIs. But for example, if we were in a different gene that had some colon cancer risk, we would talk about more frequent colonoscopies.

The risk reduction efforts can involve multiple different things. It could involve surgery. Like I mentioned, ovaries are removed in women with increased ovarian cancer risk. It can also involve medications that we know reduce the risk for certain types of cancer. And of course, we can always modify our lifestyle to keep ourselves healthier and reduce our cancer risk that way.

Host: Let me ask you about that. You led me in beautifully to my next question there. As a result of this genetic testing, indeed, what lifestyle changes may be recommended for a patient?

Megan Mortenson: So, these lifestyle modifications are going to sound very similar to what you hear every time you go see a doctor anyway. There is strong evidence that women who exercise are at a reduced risk for breast cancer. Up to 25% in some studies for women who exercise for two or more hours every week. There is evidence that plant-based diets do reduce the risk for all types of cancer, including breast cancer. And we know that things like smoking and excessive alcohol consumption also increase your risk for these cancers.

Host: You mentioned there's a 25% reduction in breast cancer risk for women exercising two or more hours weekly. That's a big number. Very telling, yes?

Megan Mortenson: It would get me off the couch.

Host: And me as well.

Megan Mortenson: But I do want to mention that, you know, that's the highest number that's been predicted. So, other studies show lower risks, 10%, but somewhere in that range, certainly enough for a walk every evening or a good game of tennis.

Host: Yes. The old every-little-bit-helps certainly applies in this instance, right?

Megan Mortenson: Yes, absolutely.

Host: Couple of other things. There's the old saying, "Knowledge is power." And that's really what we're talking about here, right? You as an expert in this, being able to arm patients with all the information available to them, depending upon their situation. But there are still those people that are either adverse to or reluctant to hearing or knowing about this, right? What do you say to people who say, "You know what? Maybe all this info will tell me that I'm at greater risk for X, Y, or Z, but I don't want to know." What do you say to them?

Megan Mortenson: I say that is, of course, their preference, and I'm not here to force somebody to know something they don't want to know. But I do like you view it as a way, as a tool, to allow us to take better care of ourselves, both in our personal lifestyles, as well as medically. Other objections I hear is that it's going to cost a lot, which it doesn't. But at its base, this is something a person needs to want to know. And if they don't want to know it, they should just be certain to be telling their family history to their doctors, and their doctor may still recommend, even if we don't do genetic testing, to watch those individuals more closely.

Host: Another thing too, my wife and I not too long ago had genetic testing done in advance of the birth of our daughter. And while it was for something different, obviously, one thing I learned from that experience that you can certainly speak to as well as anyone, is a lot of times this information can be very overwhelming in terms of its detail and so on and so forth. That's really a big part of your job, isn't it? To kind of dumb it down for patients, so to speak, no disrespect intended, so that lay people like ourselves can understand just the important parts of what we need to know from someone like you that knows it all, right?

Megan Mortenson: Absolutely. I think that is my main job, is to take DNA sequences and reports that are very technical and break it down for the person and break it down not only into understandable chunks of information, but also to have a conversation with that person where we talk about what do they want and how do they want to use this information. It is very individualized as to how even women respond to a diagnosis of a BRCA mutation. Some women want to go out and do all the risk reduction things, and some women just want that increased screening. And so, in addition to breaking down that information to a manageable amount, I spend a lot of time talking about decision-making and personal values and how this fits into the person's greater life and purpose.

Host: And so in summary here, what would you say, Megan, is the most important thing above all that you want our listeners to know about the genetic testing now available related to breast cancer? What's the main message here?

Megan Mortenson: The main message is to let women know that genetic testing is available. It can provide us very valuable information to help care for people and families in a better way. It is not as expensive as people think it is, and it is often covered by insurance. And if you have questions, meeting with a genetic counselor doesn't require you to move forward with testing. You may just get a better understanding of where we are with genetics and your own opinions about what you want to do with that information.

Host: And you don't have to be a biology major because people have someone like you to basically just give us the Reader's Digest version, as the old saying goes, right?

Megan Mortenson: I would be glad to any day of the week.

Host: Excellent. I know there were times when my wife and I were having the genetic testing explained to us and we were like, "What?" And then fortunately, the expert was like, "Okay, I'm going to explain it all." And by the time we were finished, we were fully on board with what it all meant. Well, folks, we trust you're now more familiar with breast cancer risk and prevention through genetic testing. It's really amazing work. And Megan Mortensen, congrats on all that you and yours do. Continued success. And thanks so much again.

Megan Mortenson: Thank you for having me.

Host: And for more information, please visit wakemed.org/cure. Again, that's wakemed.org/cure. If you found this podcast helpful, please share it on your social media. I'm Joey Wahler. And thanks again for listening to WakeMed Voices, a podcast from WakeMed Health and Hospitals in Raleigh, North Carolina.