Transcription:

Prakash Chandran: Each one of us has a unique genome based on the sum of all of our DNA. With advances in technology, we can now learn through testing and the guidance of genetic counselors what medical conditions like cancer we may be predisposed to. We're going to talk about it today with Catherine Furlani, a family nurse practitioner, and oncology certified nurse at New Hanover Regional Medical Center.

 This is Healthy Conversations, the podcast from New Hanover Regional Medical Center. I'm Prakash Chandran. So first of all, Catherine, it is great to have you here today. Let's get right into it. Is cancer genetic or hereditary?

Catherine Furlani: You know, actually, most cancers are sporadic about 70 to 80% of all cancer diagnoses, um, just, you know, are sort of happenstance. Um, five to 10%, you know, roughly can be hereditary or genetic, which means that there's, um, a genetic mutation,  um, that's the reason why some people have certain diagnoses of cancer.

Prakash Chandran: I see. So that mutation is one factor that contributes to cancer. Can you just speak a little bit about what that mutation is? Is it something that people can get screened for?

Catherine Furlani: There are several mutations and probably the most common mutations are the mutations that occur that will predispose someone to a breast cancer diagnosis. And then probably the second most common is that mutation that disposes people to, um, colon cancer. And those are the two, um, among others, but those are definitely the two that we can sort of test for to see if someone is predisposed to developing those cancers.

Prakash Chandran: Okay. So, you know, when you mentioned getting tested for it, what is the best practice, whether you're a man or a woman? When should you start getting screened and checking to see if you have some of these genetic factors that might contribute to cancer?

Catherine Furlani: people are, um, tested or people consider testing depending on their family history. One the most important reasons to get tested is one's family history or the age of diagnosis. Um, for if someone is diagnosed with breast cancer at a very young age, they usually tend to be tested. Um, and that's the same that goes with, um, you know, testing for the other cancers too, which again is like colon cancer, um, the melanomas they test for. So that's one of the keys is. If an individual develops cancer, how old are they? Uh, what is their family history? They usually like to go back, um, about two or three generations if they can to see if any cancers and what cancers might be in their family history.

Prakash Chandran: So when we talk about family history, you're really just saying that if within two to three generations, someone in your family had that genetic mutation, that it is important for you to get tested. So for example, my mother-in-law got diagnosed with cancer when she was 42 years old. So what should my wife do to stay proactive?

Catherine Furlani: So your mother-in-law should have been the one that was tested first. Um, they usually test the individual that has already had the diagnosis. So if your mother-in-law were to be negative, then there was really no reason why your wife should be tested, unless there's a very strong family history on her father's side. Does that make sense?

Prakash Chandran: Yeah, that definitely makes sense. And so we're talking about screening for this gene itself. This is something that at the time of diagnosis they would get screened for. And so if my mother-in-law had that, then that would be something that my wife should be concerned about and potentially get screened for. Is that correct?

Catherine Furlani: That is correct. And not only in your wife, and this is where, some of the benefits  of genetic testing come into play, because it would also be your wife that would need to be tested. Even if she had any brothers, they would also be needed to be tested as well as their offsprings. And that includes the sons as well as the daughters, because you're going to get that gene, you have a 50- 50 per cent chance of getting that gene either from your mother's side or your father's side. So like, for instance, for your nieces and even nephews, positive result would have a bearing on them going forward.

Prakash Chandran: Okay. I think I have a better understanding of this. So it's not just my wife, but it's her brothers. And like you said, there's a fifty-fifty chance that it be passed on from either the father's side or the mother's side. So that is why it is so important to screen if you have that mutation in the family. And speaking of that mutation, you know, we're kind of talking around it, what exactly is it called?

Catherine Furlani: the breast cancers, probably the two most common ones or the ones that ring a bell with most people are the BRCA1 and the BRCA2. Um, and those were the first genes that were identified that would predispose someone to developing breast and/or ovarian cancer in their lifetime. It increased the incidence.

Now, since that point, they've also come up with several other mutations that also increase one's risk of breast cancer. In addition to the BRCA1 and 2, which we're probably most familiar with, there's other mutations, such as the PALB2, um, the PTEN, the TP53, um, and the CDH1 to name several that can also predispose someone to a breast cancer diagnosis.

Prakash Chandran: I see. And, you know, I know that our audience is going to want to learn about how they can be proactive about screening for these types of mutations. So regardless of whether they have that BRCA1 or 2 in the family, um, they may still want to be proactive about the PTEN and the TP53 that you're saying. So is that something that is done when you get your annual blood workup, um, or is that something that you have to screen for specifically?

Catherine Furlani: These don't show up just in sort of like your everyday annual physical bloodwork. So, um, this is genetic testing, which should be done by a federally approved, um, genetic lab, which is, um, you know, Invitae or Myriad to name a few. Um, a lot of people these days are doing a lot of genetic testing through Ancestry or 23andMe, I believe it's called. And there's a certain risk with that, because those aren't federally approved labs and they offer their clients really no followup. Um, they're referenced to go back to their PCP. And when they do that, they're going to have to be retested, um, because in sort of like in the medical field, that's not really a valid, um, genetic mutation testing. So they have to be retested by one of the two companies that I previously mentioned.

Now, the thing with those companies is as more genetic mutations are discovered across the whole oncology continuum, so to speak, they will notify their clients or notify these patients that were previously tested and say, "You know, we know 10 years ago, you did not test positive for the BRCA1 and 2. However, these new genes have now been discovered. We'd like to retest your sample," and, you know, they ask your permission and then they will go ahead and retest.

Prakash Chandran: I see. That is fascinating to hear.

Catherine Furlani: Yeah. It's pretty interesting.

Prakash Chandran: Yeah, absolutely. So, first of all, this is not something that is automatically done in your annual blood workup. This is something that you need to be proactive about. And by being proactive, it's not just going to Ancestry.com or 23andMe, but the proper way to do this in terms of followup and making sure that you stay safe with all of the new genes that are being discovered is to use, um, I guess, a certified lab like Invitae or the genetic lab that you mentioned, is that correct?

Catherine Furlani: Yeah, that is correct, because now test people, they do sequence that includes all of those mutations that I mentioned, because they're classified as the high risk mutations. So they automatically will do-- I think they can do anywhere from nine to 14, um, mutations, check for nine to 14 mutations sort of like right off the bat. And those are going to be some of the ones that I previously mentioned, like the PALB2, et cetera. Um, but it's important to do it, you know, through your physician, um, you know, through a genetic counselor if one's available to you and you have a strong family history.  Um, and a lot of times, if you do do, you know, the Ancestry or the 23andMe, and you do have some sort of a mutation, and even if you don't quite fully understand that, bring that to your primary care physician or your oncologist, if you happen to be involved with one, because it's important that they're followed up. Um, it's pertinent to really know exactly where you stand, um, because breast cancers and colon cancers with this genetic testing can honestly be prevented going forward.

Prakash Chandran: Wow. That's incredible. Yeah. I was just going to ask you about the accuracy of genetic testing and, uh, what it's done to help shed light if a person might be predisposed to cancer. So can you talk a little bit about the real-world use case and the genetic testing accuracy?

Catherine Furlani: So it is fairly accurate when done by a reputable lab, um, which is like I said, the two I mentioned before, is Myriad and Invitae, which I know at New Hanover, the two that we use the most. Um, so results are pretty accurate because there's no in-between, you either have a mutation or you don't, you just need an appropriate way of searching for it, which is what these labs do.

And what happens is if you know that you have, let's say, for example, a BRCA mutation, you have a fairly high risk, depending if it's a 1 or 2, but you have a higher lifetime risk of developing either breast cancer and/or ovarian cancer. And a lot of the options that are recommended and put forth by, you know, national guidelines that we have is that, you know, women opt to have their ovaries removed, especially if they're finished with their child bearing years. And another option is also having a double mastectomy, um, you know, depending on how old they are and where they're at and how they feel about it, because it's a very personal decision to have to decide to have surgery like that, which is why meeting with a genetic counselor is, you know, really beneficial.  Um, a lot of these people that get tested base their decisions on what happened to previous family members, like if some daughter, unfortunately, had to watch her mom battle ovarian cancer and, you know, didn't want to have to go through that herself, nor did she want to have her daughters have to see her go through that. Does that make sense?

Prakash Chandran: Yeah, absolutely. You know, as you're talking, I'm just thinking about who might benefit the most from this conversation. And I think about it in two different groups. One is people that have been diagnosed and they want to tell their children, uh, if there's a genetic mutation, uh, in their blood system and that they should be aware of.

And the second is, uh, people that want to be proactive about their health and really screen to see if any of those genetic mutations might exist. Um, so just as we come to a close, what advice might you have for both groups of people?

Catherine Furlani: I would just recommend know your family history, both on your mother's side and your father's side. So many times breast cancer is just looked at as sort of like a woman's, um, cancer diagnosis. And even though the male breast cancer occurrence is much lower than that of the female breast cancer occurrence, fathers still carry that mutation and the siblings can definitely get that mutation from their dad. So knowing your family history, as far back as you can go, is really important. And if there's any doubt on what you need to do or what you may want to do, you know, a discussion with your primary care physician or a genetic counselor is definitely, um, you know, warranted. It definitely makes sense.

Prakash Chandran: That totally makes sense. And just finally, as we close, I'm going to ask a very basic, potentially stupid question here. If you detect that you have any of these genetic mutations, is there any way with today's technology to remove them and thereby removing the risk of you developing cancer in the future?

Catherine Furlani: Yes. And that's the key to the genetic testing, because there is definitely surveillance and definitely, um, options available to those that find out that they are predisposed to a colon cancer or breast cancer, or, um, you know, a melanoma going forward. Um, so it really makes sense, um, and it is a preventative method.

Prakash Chandran: Okay. Well, this has been an extremely informative conversation. Is there anything else that you would like to share with our audience before we close today?

 Catherine Furlani: Um, just one more point, if you don't mind. There's so much talk-- because I just recently saw, um, a commercial for, um, FoundationOne, which you know, mentioned, you know, genetic changws in someone's tumor. There's a definite difference between a mutation in one's tumor and a mutation in one's genetic makeup, they're two different things. And the only reason why I choose to bring that up is because I've seen a lot of people that really don't understand the different-- through no fault of their own, you know, genetic mutation, they figure it's their genetic mutation and, you know, if it's mutated in the tumor, it's going to be mutated within themselves. And that is not true.

Well, thank you so much for that distinction and also your time today. This was an extremely helpful and productive conversation. That's Catherine Furlani, a family nurse practitioner, and oncology certified nurse at New Hanover Regional Medical Center. To learn more about cancer services at New Hanover Regional Medical Center, visit NHRMC.org/cancer.

Prakash Chandran: And if you found this podcast helpful, please share it on your social channels or check out the entire podcast library for topics of interest to you. This has been Healthy Conversations, the podcast from New Hanover Regional Medical Center. Thanks and we'll talk next time.