Maggie McKay (Host): Meaningful Medicine, a Novant Health podcast, bringing you access to leading doctors who answer questions they wish you would ask. From routine care to rare conditions, our physicians offer tips to navigate medical decisions and build a healthier future.

Today, I'm sitting down with Dr. Matt McDonald, Gynecologic Oncologist, to talk about genetic testing for cancer. I'm your host, Maggie McKay. Before we get started, I'd love to know how this became a passion of yours, Dr. McDonald. What made you become an Oncologist?

Dr. Matt McDonald: You know Maggie, that's a really long question, or a long answer to an easy question. It's a, it's a journey. It takes many, many years through college, med school, residency, fellowship. But it, it's a, it's an interesting story. I mean, it's one that I think most people go into medicine 'cause they like science. They like helping people. And then as you navigate through the medical community and trying to figure out what really speaks to you and where you kind of find a calling, I kind of found that in specifically GYN Oncology because it's the single specialty within medicine where you practice both surgical oncology as well as medical oncology within the same field.

So what's unique about that is you really get to take care of patients from the very beginning of the diagnosis, which for the cancer journey, usually is in the surgical part, end up operating on those patients and then manage and direct their postoperative management in the chemotherapy world and radiation oncology world.

So, it's a, it's a very rewarding job that we get to take care of patients from the very, very beginning through their treatment, through survivorship and etc.

Host: And let's start with what is genetic testing?

Dr. Matt McDonald: So, genetic testing is a really broad term. I'm going to speak specifically to the cancer landscape. If you ask just your primary care doctor and said, Hey doc, what's genetic testing? He or she may give you a very long answer because there's doing genetic testing for trying to figure out which pharmacologic agents, which blood pressure agents may work better for you based on your genetic makeup.

I can't speak terribly intelligently on that because that's outside of my clinical lane. But in the cancer space, we know that a person's genetics definitely carries a role or carries a risk with certain cancer subtypes. Most cancers have no genetic link whatsoever. In fact, right now it's estimated that about 90 percent of cancers do not have a genetic or when we say genetic, we mean inherited risk, meaning I inherited something from my mom or dad when I was born that puts me at an elevated risk above the general population for a specific cancer.

 And we're learning a lot about certain genes or certain mutations we may have inherited as a child that increases a person's risk for certain cancers. And that's the genetic testing within the cancer space, is trying to identify those patients that would benefit from genetic testing, offer genetic testing to those patients, because if we know about it, we can actually prevent cancer, save lives, and really prevent heartache through multitude, multiple generations within a family.

So that's what genetic testing really means in the cancer space.

Host: And how can understanding your predisposition for cancers help? Is the option only dread or mastectomies?

Dr. Matt McDonald: Oh, no, it's actually, I think that's a really difficult misconception and something we spend a lot of time really re educating patients on. Cause, I think patients quickly go to a space where, why do I want to do genetic testing? You're just going to tell me I'm going to get cancer.

And that's, that's actually not the case. Really what it does is that if we find that a patient has an elevated risk of a certain cancer above the general population, like I'll give you an example real quickly. Breast cancer is an easy one for people to understand because it's in the literature a lot based on numbers that the general population risk for women across the world is about one in eight.

So one in eight women in their lifetime are affected with breast cancer, which is a horrifically high number, but there are certain genetic syndromes that increase that risk significantly, so up into the 60, 70 percent lifetime risk. And so, if we know about that genetic risk in that specific patient, there are screening modalities that we do differently for that patient to prevent the likelihood of her or him presenting at an advanced stage of breast cancer, save lives, and then there's medications and surgeries that we do that also prevent the onset of that cancer ever developing. And so specific to any genetic syndrome, there is a risk reducing strategy for that genetic syndrome that's particularly aligned with those risk factors, that help us basically mitigate that risk for that patient. So it's really a very active risk reducing or preventative strategies that we can do for women and men we're able to document one of these genetics syndromes.

Host: Dr. McDonald, does one occurrence of cancer in your family mean you have a family history of that type of cancer?

Dr. Matt McDonald: Yes, but I'll take it a little one step further, which is where I imagine you're going with the question is, so if you have a family member with, let's say, My mom, wasn't diagnosed with ovarrian cance, but let's just use that for an example. If my mom had been diagnosed with ovary cancer, that means that yes, I have a family history of ovary cancer.

But the next follow up question is, well, does that increase my risk of ovary cancer? Obviously, I can't get cancer as a man, but it does increase the risk potentially of a genetic syndrome that I could carry and pass on to my children, who happen to be all three daughters.

And so, in that setting, that family history, even if it's an organ that I don't even have, is helpful and indicative of, if my mom was diagnosed with ovary cancer at 62 years old, myself, Matt McDonald, should be offered genetic testing for genetic syndromes that increase the risk of ovary cancer. And the reason for that is, I want to know, if there's a potential, I could have passed that on to my children, because I want to make sure I do something for my children to prevent them from ever getting cancer.

And the other piece that's important is, again, I can't get ovary cancer, but these genetic syndromes carry other risks, like increased risk of colon cancer, increased risk of prostate, increased risk of melanoma. And if I were found to have one of those inheritable mutations, I would then go to the Novant Health Cancer Institute, we do have one of these departments where patients that don't have a diagnosis of cancer come and receive genetic counseling and testing, or they might, sometimes they come and say, I just got diagnosed with a BRCA1 mutation and they want to know what do I do to prevent something bad happening to me?

And there is a very data driven, risk reducing strategy, almost a recipe, if you will, of, okay, you need to get an MRI and a mammogram starting at 25. You may need to get a colonoscopy starting at 25 if it's a different syndrome. And so there's a recipe that we develop for those patients that they forget, that they undertake. Just like you go get a pap smear, we do other things that prevent them from getting these other cancers. So it's a very powerful piece of information, both for yourself, but also for your entire family.

Host: That is fascinating. I never, ever heard that. I never knew that. How is genetic testing helping with cancer prevention?

Dr. Matt McDonald: It's huge. You know, I mean it's difficult. I mean, I, I was in the office yesterday seeing new patients, saw two patients with a newly, new diagnosis of ovarian cancer. So for those patients, we're going to go down the path of treating their cancer, getting them better, and that horse is already out of the barn, so to speak, for them.

 And ovary cancer is a good example in that any patient diagnosed with ovary cancer should be, the standard of care is, they should be offered genetic counseling and testing because there's certain genetic syndromes that fall in line with ovary cancer. It doesn't mean you have one. Depending upon your family and your personal history, it's probably around the 10 ish to 12 to 13 percent chance you have one of these genetic mutations.

And if we determine that, and we find those all the time, because we take care of patients with ovary cancer, the first thing you do in the way that that information helps that patient and her family, is number one, we now have targetable medications to treat that mutation that help people live longer with ovary cancer.

So it directly impacts her care to the benefit. Number two and number three is it helps her family, their immediate family and their extended family. So if one of those patients I saw yesterday turned out to be positive for one of these genetic mutations, we would immediately want to offer testing to her children because that patient's children, each one of them would have a 50 percent chance of inheriting that same mutation.

And then we would want to offer genetic testing to her siblings, again, boys and girls, because I've just told you I would want to be tested for other reasons because each one of them has a 50 percent chance, assuming they share the same parents, they would have a 50 percent chance of having one of these mutations as well.

And if we know about it, we can prevent it. So those two patients I saw yesterday, they didn't have genetic testing done because they didn't need to, because they were the index case. Actually, one of them should have gotten tested because she had a mom with ovary cancer, but if we would have had them tested 10 years ago, 15 years ago, we would have embarked on strategies and I would have never met those two ladies yesterday.

We would have prevented them from getting ovarian cancer with screening and risk reducing surgeries and risk reducing medicine. So that's the big piece of a couple of questions ago, Maggie, where you worry. It's almost just like, you're just giving me doomsday information. The answer is that's not why we're doing it.

We're doing it because to try to get rid of cancer and keep those patients from ever needing our cancer center. And that's really what the impetus and the motivation is.

Host: Can you share three helpful tips for someone who may be considering genetic testing?

Dr. Matt McDonald: Yeah, that's a great question. I think that's the biggest difficulty that we have in medicine right now, because what we're talking about right now, I mean, I know a lot about this because this is what I do for a living, but your primary care docs, your pediatricians, your lay public don't really understand this.

I would say, Maggie, most of them feel like they don't want to go get tested because you're just going to tell me I'm going to get cancer. And it's an educational piece that is very difficult to get out to the masses. And so what I tell patients, and I have done countless lectures on this topic, because it's a bit of a passion project of mine, because I'd like to never meet another woman with ovarian cancer, but the big questions are, if you scratch your head and say, boy, that's strange. There's a lot of cancer in my family, then ask your doctors about it, do some research about it. I mean the difficult thing is there are no families that don't have cancer in it. If we have family members that live a long time, which we all hope they do, we all have family members with cancer.

But if you see cancers at a young age, like really any cancer at a young age, but specifically to some of the ones we're talking about, colon cancer before the age of 50 is a light bulb, like, Hmm, I need to go talk to somebody. Breast cancer before the age of 50, go talk to somebody. Male breast cancer, which I don't think many people, certainly women, ever think about, but men get breast cancer.

And that is a big red flag for a genetic syndrome, actually. And uterine cancer. Uterine cancer is another big one. If you see uterine cancer before the age of 50, it's something to say, hmm, there might be something going on in my family that's putting us at risk. Let's go talk to somebody about getting tested, and maybe we can stop this from, you know, we can somehow end that line within my family tree of these cancers continuing to propagate.

So, I would say multiple family members with cancers. And certainly cancers before the age of 50, colon cancer at 85, it just happens to us because it's a phenomenon of getting older. But cancers in a young age, still most of them, Maggie, are not inheritable and don't carry a genetic mutation, but it raises the risk of that.

So we want to make sure those patients get to the right place to get tested.

Host: Right. In closing, Dr. McDonald, is there anything else you'd like to share? I mean, just kind of reassuring people that it is a good idea to get tested?

Dr. Matt McDonald: It's a fantastic idea. In fact, my wife, she's, I'm 53, she's 52. She actually does not have any family history that would warrant genetic testing. However, in the old days, let's rewind 10, 12 years ago, genetic testing was very expensive. To get one of these panel tests, it was about seven or 8,000 dollars. And insurance, it was just a blood test, but there was a patent on it, and insurance would only pay for it if you had a certain family or personal history that raises your risk of having a genetic mutation greater than 10%, which is where all these breast cancer before the age of 50, blah, blah, blah, come in.

Nowadays it's, now that patent is expired, it's a couple hundred dollars. So some patients, my wife included, some of her friends have just said, I'm just going to go get it done. She came to our genetics counseling department, got her tests and hallelujah, hers was negative.

But that's something, you know, one of her best friends, no family history, found out she had a BRCA mutation, which raised her breast cancer risk to 70%, ovary cancer risk to 40%. And guess what? We've embarked on that risk reducing strategy and we're going to keep that from happening to her.

And we're going to keep her children from having a problem. And so I would say the biggest advice I could give is patience. I think women do this better than men. And sorry to the men that are listening to this. And, but I think women think about themselves and their family's preventative health better than men do.

And so I strongly encourage the women listening to this podcast, as well as men, you've got to be your own advocate. And go the extra step. It's, you know, your primary care doctor knows a lot about things I do not know about. Because that's what they do. We're all really busy, and our lives have gotten busier in medicine for lots of reasons.

They don't have the time to keep up on all this genetics. They don't. Just like I don't have the time to keep up on cholesterol medication. So, if you think something's strange in your family history of genetics, and you talk to your primary care doctor, and he or she is like, oh, that sounds fine;

go the next step. There's countless calculators on Google. You can go to Google, put in your family history, and bang, it'll tell you if you ought to go to get genetic testing done. So take the time, the resources are there. Eventually, I do think the electronic medical record, the computer system that we've all in medicine, that's made our life busier.

It's made it better, but it's made it busier. Eventually, I think it's going to do a good job of flagging those patients, Maggie, that the primary care doctors don't have the knowledge or the time to realize, uh oh, Matt McDonald needs to go get genetic tested because of all of these things medical or family history.

Right now, it's just not doing that for us. I think by the time I retire, I think it will. And when you open up a patient and you walk in, we can't keep up on everything. We just can't. And I'd like to say we can, but we can't, but I think the computer and with AI, I think that this is something AI would be great should spit something out to me when I'm checking out to say, you need to refer Maggie for X, Y, and Z.

Okay, great. I don't need to understand why. I'd like to know a little bit, but I mean, for your benefit, we just need all of these systems helping us protect people.

Host: Right. Well, thank you so much for sharing your expertise and making the time to be here and share all this useful information. We appreciate you.

Dr. Matt McDonald: You're more than welcome. Happy to be here.

Host: Again, that's Dr. Matt McDonald. To find a physician for more health and wellness information from our experts, visit NovantHealth.org. And if you found this podcast helpful, please share it on your social channels and check out our entire podcast library for topics of interest to you.

I'm Maggie McKay. Thanks for listening to Meaningful Medicine, a podcast from Novant Health.