17 – Navigating Hereditary Cancer Risk – Part 2
January 23, 2024

Join host Kim Thiboldeaux and Krissa Smith, VP of Mission Partnerships at Susan G. Komen, as they continue unraveling how the BRCA gene and other DNA mutations impact hereditary cancer risk. In this episode, Krissa shares personal stories about her family’s experiences with genetic testing and how they’ve chosen to respond. Krissa also discusses cancer screening best practices and how multi-cancer early detection testing can play a role.

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Kim 00:09
This is The Cancer SIGNAL, a podcast presented by GRAIL, where we discuss the impact of early cancer detection, the science behind multi-cancer early detection and insight into how this approach has the potential to shift the cancer paradigm. I’m your host Kim Thiboldeaux.

Welcome back to our discussion about BRCA and other genetic mutations that are linked to increased cancer risk. Today we are continuing our conversation with Krissa Smith, Vice President of Mission Partnerships at Susan G. Komen. If you missed the previous episode, go back and listen to the first half of this conversation there to get caught up.

Krissa, what has changed from when genetic testing for BRCA was first available, sort of the high science kind of some remarkable advances to today? Are more people getting tested? Is there better access? Is the testing easier, more accurate?

Krissa 01:00
All of the above. So that’s the great news and the just incredible part about science in the field moving forward. But the most important part for me is that a few years ago, like I mentioned, all genetic testing could do is help you know you’re at higher risk. And like for me and my family, we already knew we were at higher risk. We knew half our family had cancer. So now they actually have specific therapies for people with BRCA mutations that have had some great results. And this is a huge win. So BRCA testing became available in 1986. We now have really clear recommendations for who should get screened, and some specific treatment recommendations based on BRCA mutations. And we even have some prevention measures that people with BRCA mutations can access such as mastectomy, additional screening. Different ways that you can just really keep a close eye on it. Genetic testing has gotten significantly cheaper and more accessible. So let’s talk a little bit about that. How many people are actually getting tested? Still lower than we would hope. But from 2007 to 2016, we had an increase of 34 people out of 100,000 to 488 out of 100,000. That’s a big jump. And that’s just data up until 2016. The good news is that most insurance plans cover the cost of BRCA testing if you meet the criteria. So the coverage, where it gets a little murky is the coverage of the expanded panel testing. That’s something that our policy team is really working to improve because it wasn’t specifically called out. So typically it requires a recommendation from a healthcare provider. So this puts people in the place of really having to advocate and figure it out with their doctor if that, if that’s appropriate.

And one thing I wanted to highlight is one of our Komen researchers, Allison Kurian, she’s a Komen Scholar, she found that only 6.8% of patients with cancer have actually received genetic testing. So that’s less frequent than the recommended guidelines. And there are also some pretty solid racial disparities. Again, not a huge surprise, but we only see about 25% of Asian, Black and Hispanic patients receiving testing compared to 31% of white patients. So yes, greater access, greater affordability. But there’s still work to be done.

Kim 03:24
Got it. We’ve come a long way but still-

Krissa 03:27
Always, right.

Kim 03:28
Miles to go right? Miles to go. And we appreciate the team, we appreciate the research and the team that’s bringing this information forward, because I think it does help us, you know, advocate for improving in all of these areas, especially in the area of health equity. So thank you for, for bringing that to light. Krissa, if a person has a BRCA mutation, what does it mean for inheriting or passing the genetic mutation within one’s biological family? And does this risk vary across different mutations associated with cancer risk?

Krissa 04:00
So that’s a really big question. And it has a lot to do with the fact that you have two copies of DNA in every cell. And if you have two bad copies, you’re more likely to have more problems passed on. If you have one bad copy, it’s less likely. So I won’t get into all of the details of that. But basically, if you have a BRCA mutation, there’s a 50% chance of passing that on to your children. And most hereditary cancers have about that same rate. Again, talk to somebody to know your personal risk. But um, and that ends up being a really tough thing, especially if you, so when my family was diagnosed, most of my aunts had already had all their kids. But now my cousins are having to make that decision about their kids and when you test them, and how does that impact your family planning, and it ends up being a much bigger conversation than you think. So that’s something to consider, especially find support, find resources, talk through it. There are some amazing ways to move forward with that. But it ends up being a bigger conversation than just what, what’s happening with you.

Kim 05:09
Absolutely. I certainly I know of families where they know about a risk in the family, some have gone to get tested, some have not. It’s hard to sometimes understand that. Look, you know, cancer is complex, families are complex. Yeah, exactly, exactly. But it is, it’s an interesting moment to think about what’s sort of the holidays… You know, upon us, I know, these are sometimes difficult conversations, can impact dynamics, and we don’t want to put any judgment or anything out there. But certainly education, knowledge is power. Can you circle back a little more to your own family’s experience with the p53 gene? Decisions about – again, we don’t need to name names, but just conversations and you know, who got to get tested? Who decided to get tested? Who didn’t? What has that meant for the family dynamic? Are those ongoing conversations? I’d love to hear more about them.

Krissa 05:59
So they’re absolutely ongoing, right, everyone kind of has to have that decision for themselves. And the spouse who is involved, but isn’t, that kind of impacts them as well like this, it ended up being multi-layered. You’ll invariably have one family member who is just super excited, gung-ho wants to know everything about cancer. It doesn’t just impact you. So they want to know everything about it. My family was pretty evenly split, we have about half of them who went into the medical field, myself, I went into cancer research, I fell on that side. Others are really emphatic that they do not want to know, that it’s going to change the way they live and the way people treat them. And I can see that perspective. As I mentioned, my father lost a lot of his sisters. So that sort of impacted how, it impacts every holiday. When he got tested, he was negative. And so obviously, my test was going to be negative because you can’t pass on something you don’t have, right? Which was, was fantastic news for our family. But I didn’t really anticipate how I would feel when I got that negative result ‘cause we did it just in case. I mean, I knew that we’re at high risk. So like, you know, you just deal with it. But it was a huge relief. And I again, I’m in the cancer space, I do cancer all day, every day. But it was a weight that I can’t explain was gone. And at the same time, I felt just a little bit guilty. So when you talk about it being complex, it really is. Because you worry about those who are still like waiting for cancer to happen. You worry about those who are currently dealing with a cancer diagnosis, and then the others of us just sort of hover on the sides trying to help. And you know, it’s a challenge. But we gotta, we gotta find a cure for this.

Kim 07:49
Yeah, absolutely. Absolutely. And like you said, there are resources out there that can help people kind of broach these conversations with families and try to be encouraging but not overbearing.

Krissa 08:00
Yeah. And I think it’s really important to just think about it for a minute because like, when I was younger, I assumed everyone would want to know about this because this all happened when I was in high school and college, when we started figuring out this is an issue for our family. And then when you start talking to people and you get like a really powerful reaction from them, and I just didn’t expect that. So you just have to kind of think it through that not everyone might be as on the same page you’re on.

Kim 08:25
Yeah, no, that’s fair. That’s fair. I just want to drill down a little bit more on the current cancer screening recommendations for those with a BRCA mutation. What are those current recommendations? Does having a BRCA mutation change your screening schedule for things like mammograms? Is increased screening needed for the population? Can you enlighten us about that a bit?

Krissa 08:48
Yeah, absolutely. So if you have a gene that’s supposed to repair your DNA, and you’re likely at risk for younger cancers, obviously, we don’t want to start mammograms at 40. We want to, it’s a little late by then. So additional screening is absolutely necessary. As we’ve learned more about this, as the tests are more available, providers are more aware of this, it’s become easier to advocate for this. And it’s easier to have this covered by insurance. Still a challenge depending on how you’re shuffled through the health system. So screening for breast cancer starts at an earlier age, and it’s more frequent. So from age 25, to 29, you should be having so you start 25, instead of 40, you should have a clinical breast exam every six to 12 months, a breast MRI every year, mammogram if you don’t have an MRI available, but the MRI is really going to be a higher quality diagnostic. And from age 30 to 75, you need to have a breast MRI every year, that you really just should.

Kim 09:48
Yeah. So that’s important to note that the screening recommendations do change if you do have this, this mutation. Krissa, you talk about you know more diligence and surveillance, what are your thoughts about multi-cancer early detection testing, for people with an increased risk of cancer due to a genetic mutation, particularly, you know, for those cancers that do not have a current screening test, like a mammogram or other screening tests available?

Krissa 10:15
Oh, I think there is just so much potential in this area. There’s some great things happening in the early detection space. I’m really watching this research with a lot of enthusiasm, both for myself personally, for my family and for our communities. First of all, multi-cancer early detection tests have the potential to find more than one type of cancer from a single sample of blood. So this is great news for patients full stop. A blood test looking at that molecular level, it’s exponentially easier than those multiple body scans or mammograms, all of that. So especially for patients with genetic risk, they’re going to need a lot of that screening. And as I mentioned earlier, about those for, with mutations for BRCA and p53, there’s a lot of places to keep an eye on. It’s not just one type of cancer. So this is a real, like if you can get this to be really solid, this is such a big win. Imaging also finds cancers, when they’re larger, right, has to be big enough to see on an image, you’re not it, which sometimes takes, it’s further along. Whereas if you’re looking at that molecular level, you’re ideally going to catch it really early. So the field is moving very rapidly. But right now, these types of tests you can get from your doctor. The research is still showing how this is going to work for patients and what it’s going to mean for making clinical decisions. So we’re still hoping for that FDA approval, but we are keeping a close eye on it and can’t wait to hear more about it. In particular, we are so grateful to those who participate in clinical trials, because that’s how we’re gonna get these new approaches, like multi-cancer early detection tests. That’s how we’re gonna get those new treatments and making advances for families like mine.

Kim 11:59
Yeah, absolutely. And, you know, just to emphasize to our listeners, multi-cancer early detection is not meant to take the place of our screenings, right? To take the place of our mammograms and colonoscopies and all those other fun things, hopefully another important tool in the toolbox as the science advances so very, very exciting. As we get to the end of our conversation… Krissa, and I could talk to you for days. So I really appreciate all that you’re sharing today, but talk to just talk to us a little more about Komen. Where can our listeners learn more about this topic, about other exciting things that are happening at Komen, anything that you want to share?

Krissa 12:36
Absolutely. So Komen, we are trying to end breast cancer forever. BRCA, those genetic testing is a big part of that. We did a really cool, we have a really cool program that’s ongoing. It’s called Worship in Pink. It’s a grassroots effort that was developed to amplify that conversation about breast health in faith based organizations, particularly in those in under-resourced communities. There are certain genes that pass like BRCA, from one generation to the next. And they have that large impact on breast cancer risk. And that risk is compounded for Black women by the fact that they don’t get genetic testing as often as white women do. So in response to this disparity, Komen developed educational, genetic counseling and testing resources through our Stand For H.E.R. and H.E.R. is the Health Equity Revolution, that are tailored to that Black community, and explain the benefits of genetic counseling and testing and how knowing your family can affect your future health. So we did a pilot program, and it was overwhelmingly positive with 88% of those who completed the event survey reporting that it had improved their feelings about genetic testing. It’s, genetic testing sounds like it’s, like they’re getting to know the very essentials of you, they know everything about you, they have your genes, you know. So there is some concern about getting genetic testing. I know I face it in my family. Other people from our event felt that they were 82% more confident to seek out those genetic services, and to actually talk about it with their family. If you go to our About Breast Cancer pages on the komen.org site, they’re full of specific information about BRCA, about mutations, about genetic testing, we have a family history tool, it’s a great place to start just kind of thinking about this impacts you. And I have to give a huge shout out to our amazing policy team, because our Center for Public Policy is advocating for measures that protect access to and coverage for that genetic testing for breast cancer, including those expanded panels. So it’s really, I’m so impressed with the work that Komen is doing. I love being a part of this organization. And just thrilled to be here today and really appreciate the conversation.

Kim 14:51
Krissa, thank you so much for joining us. Krissa Smith from Komen, we appreciate you joining and just a reminder to folks, you can go to Komen, komen.org to learn about all of the wonderful resources that Krissa has shared with us today. Thank you for joining. This is The Cancer SIGNAL presented by GRAIL. I’m Kim Thiboldeaux. Please rate our podcast, or leave a review and subscribe to learn more about the impact of early cancer detection on future episodes.