Play PodcastPlay Download PodcastDownload

Transcription:

Prakash Chandran (Host): Did you know that certain types of cancer can be hereditary? It's our goal to help you understand how important it is to know your family medical history, including family history of cancer, because knowing your hereditary risks, empowers you to proactively decrease your chance of getting cancer and facilitate early detection. Joining us to discuss is Gail Stapleton, a Certified Genetic Counselor and Julia Yates an Oncology Nurse Navigator, both at PRISMA Health. This is Flourish, a podcast brought to you by PRISMA Health. My name is Prakash Chandran. Gail and Julia, it is so great to have you here today. Gail, I just wanted to go ahead and start with you and just ask, you know, what exactly does family medical history mean? And why is it so important for us to know ours?

Gail Stapleton MS, CGC (Guest): Well, thank you for having us. So, a family medical history is simply knowing your family's health history. So, by family members, close family members, being your parents, your brothers and sisters, your grandparents, aunts and uncles and knowing what kind of diseases have popped up in those folks in your family.

It's also helpful to know their ages at diagnosis. And that's important to know because sometimes that information can give you a heads up to what kind of conditions you might be at increased risk for so that you can take measures to lower your risk for those conditions.

Julia Yates, MSN, OCN (Guest): And I have something to add to that. In my experience because a nurse, when I'm collecting a family history during an interview, patients and caregivers often get bogged down in the details of a family history. They're concerned that they don't know enough. They don't know. Grandmother didn't talk so much about her medical history, so they don't know that much.

But what I encourage folks to do is just share what they know. If you know that your grandfather maybe had a colostomy, but you don't know why he had it. That's still valid information for the providers to know. And also you may not know the exact age that someone was diagnosed with a cancer, but if you have some idea of the decade, because in, especially in hereditary cancers, it's important to know if someone was diagnosed with a cancer pre-menopausal versus post-menopausal. A man with prostate cancer at a young age versus in his seventies or eighties. Those are relevant pieces of information. So, I just encourage the folks that I interview to just tell me as much as they know, and even knowing the size of the family, you know, how many siblings there were, because if you have a very small nuclear family, that was just mom and dad, they only had one child and there's not a lot of extended family and no one had cancer, that's important to know. But if there were 30 people in the family tree and no one had cancer, that's gives us even more information. So, that's what I do, is I just encourage folks to tell us as much as they know and let them know that it's all valuable information.

Host: Yeah, that completely makes sense. And you know, you mentioned some of the conditions already, but what are maybe some of the most common hereditary conditions that you see come up?

Gail: Well, in our clinic, we focus on cancer and there are specific cancers that give us red flags as far as what might be hereditary versus what might not be hereditary would lean more toward environment and things like that. But hereditary cancers, we think about rare cancers, like male breast cancer, for example, or ovarian cancer.

We also think about cancers in younger people. Like a young woman diagnosed with breast cancer would be a red flag for something hereditary. I also want to point out though that some families have a lot of cancer in the family for other reasons. So, if something looks like it runs in the family, it's possible that thing runs in the family because of a shared environmental factor or shared lifestyle factor or something of that nature that could increase the risk in multiple family members.

So, something running in the family, you know, there are different ways, I guess, that things can run in a family as far as external factors versus something genetic that you were born with. But our focus in our clinic is try to find those folks that do have a hereditary risk, a genetic factor that they were born with that puts them at increased risk.

Julia: That's a good point, Gail. I think oftentimes when we're talking to patients, they relate hereditary risks to things like heart disease and diabetes. And they'll often say, you know, heart disease runs a strong on my dad's side of the family, diabetes on my mom's side of the family, but then cancer is a little bit different. They'll often say, well, there's not a lot of cancer in the family, but not realizing that having even one relative in your immediate family or second, third degree relatives with a pancreatic cancer is something of high interest to someone in our clinic. So sharing all information.

And another thing that that patients often won't understand is that there may not be a breast cancer in the family, but there may be a lot of prostate cancer in the family and a female patient might not find that to be relevant to her, but it could be related to a gene that predisposes family members to prostate and breast cancer. So, you know, really the take home is that all family history is relevant to share. And then let the providers kind of tease through what might be a red flag or something of interest.

Gail: And I have something to add. I completely agree with that, Julia. And that's a great point as far as genes that can manifest themselves differently in different people in the family. So, it's important to know all of that family history, because you never know what might be a clue for something heredity.

Host: Yeah. So, let's unpack that a little bit, because one of the things that was mentioned was that there are environmental factors, but there's also these genetic factors or genetic predisposition. So, maybe speak a little bit more about what those are specifically and the point in which people should act to really try and get ahead of this.

Gail: Well, like I said earlier, we do look for red flags in family histories to try to identify the people that are most appropriate to do genetic testing. There are lots of genes that have been discovered over the years that can predispose to cancer. Many people are familiar with the BRCA genes, BRCA one and BRCA two, that can increase the risk primarily for breast and ovarian cancer in females. These genes can also increase the risk for certain cancers in males as well. But getting a good family, medical history and a good cancer history can help a genetic counselor like me find the people that are most appropriate to do that testing.

If something is found in a family and it's easy, if we identify the gene in a family, then we can test multiple people in the family for that gene to see if they have an increased risk for those cancers. If they do have an increased risk for those cancers, there are often things that we can offer them to lower their risk, you know, such as a extra screenings or a preventive surgery. Julia can speak to lifestyle factor modifications that she talks to people about a lot as well.

Julia: Right. And what a lot of people don't realize is that while having a genetic predisposition is important, depending on the resource that you read, it contributes maybe 10 to 15% of your overall risk. Whereas lifestyle contributes 30 to 50% of our risk. So, occupational exposures, our diet, our body composition. There are a lot of things that contribute to our risk beyond family history and the possibility of a genetic mutation.

Host: So, I actually just want to understand a little bit more about the field of genetic counseling. So, you know, one of the things that we're talking about is if you are identified for high risk, then you should consider getting that genetic counselor. Probably the first time a lot of people have heard about this field. So, maybe just at a very high level discuss what your first interaction with a patient is like. And some of the things that you do specifically for them.

Gail: Sure. So, when we see patients in our clinic, the first thing we do is like, we've been talking about, get a good family history. In our clinic, we focus on cancer family history. Other genetic counselors focus on other things like heart disease and Bbirth defects and things like that, but we gear our conversations toward hereditary cancer risks.

So, we get a good family history looking at the entire family, looking at how large the family is, how long people have lived, the ages of the cancer diagnoses, if the patient knows them. Nobody knows everything about their family history. So, sometimes people will come in and say, you know, I just don't, I don't know that much about my relatives or I don't know their ages and that's okay.

We just get what the patient knows. And then we have a conversation. We just sit down and talk about what genetic testing means, how these genes work, how many genes are there that we could test for first, depending on the family history and the types of cancer that can help us decide what kind of genetic testing is most appropriate, or which genes are the most appropriate to test for.

And we'll just talk about different results that we can get on genetic testing and what those mean, and really educate the patient about what we're doing, why we're doing it, what it means, how we would follow up with them so that they're comfortable doing genetic testing. Many people come in our door and have no idea what we're about to do.

So, we just sit down and have a conversation about all of the ins and outs of genetic testing and help the patient decide what they're most comfortable doing.

Host: I just wanted to kind of clarify something, you know, I think a lot of us have heard about other types of precancer screenings before. So, is this type of genetic or hereditary screening in addition to the other precancer screenings that you might do? When does someone typically engage with a genetic counselor versus doing their normal precancer screening?

Gail: Many of our referrals come from local physicians who identify people who have a chance of having something hereditary because their family history is suspicious or because they have a personal history of cancer that is suspicious for something hereditary. And so they will refer those patients to our genetics department, for that conversation. And to initiate the testing. So, many times they start with their own physicians who then identify the people to refer to us.

Julia Yates, MSN, OCN (Guest): And we have a Center for Cancer Prevention and Wellness here at PRISMA Health Upstate and within that we have Prevent Cancer Greenville, which is a free study offered to the public. And in that visit, we perform body composition. We do a risk stratification, so we review family history, diet, activity, past exposures, numerous risk factors. And if within that visit, we identify someone with those red flags or with indications for consideration of genetic counseling, we can make that recommendation then, and even refer them to the genetic counselors. And we've done that numerous times.

Host: So, I want to move on specifically to the cancer genes that you mentioned, especially as it relates to breast cancer. I think that you said those genes that you look for are BRCA one and two. So, if someone gets a test and it reveals that they actually carry the gene, what do they do with that information?

Gail: It depends on the person. So, our job as genetic counselors is to present the information to the patient and what their options are for followup. So, we'll just use BRCA one, as an example, we know that women who carry a mutation in the BRCA one gene have a risk of, a lifetime risk of breast cancer, somewhere around 60 to 70%.

So, we educate those women about that risk and go through some options such as do you want to increase your breast screening so that you're doing a mammogram and a breast MRI every year? Do you want to consider having a preventive surgery? So, a mastectomy with reconstruction, so that, that eliminates your breast cancer risk by about 95%.

There's also an ovarian cancer risk, so we would go over, have a similar discussion around it. When do we recommend you consider having your ovaries out, getting the appropriate referrals made to the specialists that they can discuss that with, those kinds of things.

Julia: And Gail aren't there cases where we have fairly young patients who are found to have a BRCA mutation and maybe they're at an age where they're not ready to really make a commitment toward a prophylactic mastectomy or a hysterectomy, I imagine that can be a difficult conversation. And are those referrals ever postponed or are they referred somewhere else for surveillance until they make that decision?

Gail: They are referred to our genetics management clinic, which is run by one of our nurse practitioners so that they can follow up with her once a year, just to touch base and make sure any pertinent screenings are getting done. Also to keep the conversation open, you know, when do we recommend they start screening at least. And then if down the road, they decide to consider surgery, we already have them in our system so that we can initiate that those referrals as soon as they're ready.

Host: And just that, you know, expanding on someone that maybe has found out that they do have that breast cancer gene, what does that mean for their family? Like, is this something that they need to tell all of their immediate family and relatives, so everyone can get screened as well?

Gail: Yeah. So, if we do identify a mutation in one of the BRCA genes, then it almost always is inherited from one of their parents. So, their parents are candidates for testing to see which side of the family it came from, as are their brothers and sisters and any adult children that they have, are candidates for testing.

And then we can kind of go out from there. So, if the gene came from the patient's mother's side of the family, for example, then we could offer the mother's brothers and sisters testing. And then whoever had the gene, their children would then be candidates. So it's kind of a cascade effect like that trying to identify folks that carry the gene so that we know if their offspring are at risk. Sometimes people have passed away or don't want to do the testing. And then we just offer testing to whoever wants to have it done, just to to see whether they carry that gene or not.

Host: And just one final question regarding this breast cancer gene, if someone tests negative for the gene, does this mean that they're safe and they're never going to get cancer?

Gail: That is a good question. And the answer is no, not necessarily. We all have a risk of cancer, even if we don't have a genetic predisposition. We all have a risk for cancer. So, there are general population risks. There are other factors that might increase the risk, like we mentioned earlier, lifestyle factors or environmental factors that someone can talk to their physicians about, but we still recommend general population screening.

You know, which for women is a yearly mammogram beginning around age 40, depending on her family history. And you know, screening colonoscopies beginning at age 45 now is what the American Cancer Society is telling us. So, even if someone tests negative on a genetic test, we still recommend that they do general population screening.

Julia: I agree. And that's what we generally advise our participants in the study is that none of the women who come through the door arrive with a 0% risk of breast cancer and we perform risk stratification using a couple of different tools that take into consideration, not only their family history or history of genetic mutations, but also their breast density, when they started their menstruation, if they're post-menopausal, if they've ever taken hormone therapy.

So, there are a lot of different factors that contribute to the overall risk for developing breast cancer. And we take all those into consideration. So, whereas someone might not be high-risk related to a mutation, they may still be at above average risk based on their own personal body composition, lifestyle, et cetera.

Host: So we've covered a lot of ground today, but if there is a woman listening to this and wants to know the most important thing that they can do to reduce their risk for getting breast cancer. What might that be?

Gail: I'm going to let Julia take this one.

Julia: Okay. Well, I mean, something that we can all do is to avoid being sedentary, to eat a good balanced diet, avoid processed meat. And there are a lot of foods that contain phytochemicals, which are compounds that actually have been proven to reduce cancer cell development. So, the balanced plant-based diet, not necessarily vegan, vegetarian, but avoiding processed meat, avoiding processed foods, eating a balanced diet and body awareness that aids in early detection. So, we used to use the term self-breast exam, but now it's just body awareness, just knowing your body, knowing what changes might be occurring, any new lumps or bumps to bring that to a provider's attention as soon as possible is key in early detection and could lead to early detection of a precancerous condition that could be managed and prevented from progressing to a more invasive type of condition. So, that's a big part of it too, is knowing your own body and and making your provider aware of any changes.

Host: Right. And just expanding on that early detection piece, one of the things that I've heard is that women over the age of 40 should definitely have regular breast screenings, but I've also heard that if there is an incident of a breast cancer in the family, that women should even go in earlier than that, like at the age of 30, is that correct?

Julia: Right. Well, there are guidelines that we follow. The National Comprehensive Cancer Network kind of gives us some guidelines to follow as well. So, depending on at what age the family member was diagnosed, kind of gives us guidance as to when to advise the family members to begin screening. And it is oftentimes younger than age 40, but if the family member was diagnosed after 40, you know, it's really based on the age at diagnosis as to what we would advise the family members.

Gail: And I'll add that in general, we recommend screening 10 years younger than the youngest person in the family was diagnosed but not typically before age 25. You know, younger women have denser breasts and it's just harder to screen very young women, but you can do breast MRIs and clinical exams and things like that.

Host: Well, Julia and Gail, this has been a super informative conversation today. Thank you so much for your time. Before we close, is there anything else that you'd like to share with our audience?

Julia: I would just like to remind the listeners that the mammography is still kind of the gold standard for breast cancer screening. While there may be other alternative imaging, there's not enough evidence to suggest that they replace a mammography. So, with your own body awareness and mammography, that is your best screening strategy.

Host: Yes. I have definitely heard that before. So Julia and Gail, thank you again so much for your time. I really appreciate it.

Gail: Thank you.

Julia: Thank you.

Host: That's Gail Stapleton, a Certified Genetic Counselor and Julia Yates an Oncology Nurse Navigator, both at PRISMA Health. For more information, please visit our website at prismahealth.org and listen to other podcasts, just like this one at blog.Prismahealth.org/podcast. This has been Flourish. A podcast brought to you by PRISMA health.

My name is Prakash Chandran. Thanks so much and we'll talk next time.