Intro: Duly Noted, a health and care podcast, is the official podcast series of Duly Health and Care. Each podcast features physicians or team members discussing groundbreaking topics and innovations that help listeners reimagine and better understand an extraordinary health and care experience.

Caitlin Whyte (Host): There are a lot of factors that can contribute to your breast cancer risks. And in today's podcast, we are going to be discussing the importance of genes and screening. Joining us for this conversation is Lauren O'Connor, a nurse practitioner and certified genetic cancer risk assessment provider at the high-risk breast clinic at Duly. Well, Lauren, thank you so much for being with us today. To start us off, what is the importance of early detection and screening when it comes to breast cancer?

Lauren O'Connor: It's simple. Early detection saves lives in breast cancer. We know that the survival rate for breast cancer is much higher when we are able to detect it early and intervene.

Host: Gotcha. Well, can you explain the role then of genetic testing in identifying hereditary breast cancer risk?

Lauren O'Connor: Sure. Genetic testing for hereditary breast, ovarian cancer syndrome allows patients and clinicians to better understand the risk of not only developing cancer, but for cancer survivors, the chances of reoccurrence.

Host: Well, thank you for that, Lauren. You know, this topic is actually really important to me. My sister and I got BRCA tested a couple of years ago, because our aunt had breast cancer and told us we should do that on our end. So, who would you say should consider genetic testing for breast cancer and what are the benefits?

Lauren O'Connor: Well, the National Comprehensive Cancer Network and the American Society of Clinical Oncologists put out guidelines at least once a year for those who should consider genetic testing for breast cancer. Currently, guidelines, there are many. They include people who are diagnosed before the age of 50 with breast cancer, those diagnosed with breast cancer in both of their breasts, those with more than one breast cancer diagnosis in their life. Triple-negative breast cancer carries a higher genetic predisposition, any males diagnosed with breast cancer, or having any first or second degree relatives that meet those criteria, so any siblings, any parents, any grandparents, et cetera.

People also, though, that have more than two or three family members diagnosed with breast cancer on the same side of their family should also consider testing. That said, I typically take a very broad approach and test almost anyone who is interested and motivated as long as we together discuss the nuances of their situation and any limitations of the testing during our consult together. And I really think the greatest benefit to genetic testing today is that this information can help people understand and manage their cancer risks, identify prevention strategies, and of course, aid in informed decision-making on treatment and other life decisions. I am really passionate about clinical cancer genomics and how rapidly precision medicine is changing cancer detection and treatment.

There are clinical trials being done right now using immunointerception on a tumor antigen called hTert, and it combats cancer and the formation of cancer at earlier ages, even pre-cancerous. And there are now studies being conducted in the U.S. on vaccines for BRCA1 and BRCA2, which is incredibly exciting in my world.

Host: Absolutely. Well, Lauren, what are some common misconceptions about genetic testing for breast cancer?

Lauren O'Connor: Well, when talking about inherited breast cancer risk, the only genes that people typically know much about or talk about are BRCA1, BRCA2. And while those are really well known, a few people know that there are many other genes related to breast cancer risk that can run in the family. While they're not as well known, they're equally as important to be tested for.

For instance, did you know there's a gene called PALB2? It causes about 60% lifetime risk for breast cancer, as well as an increased risk for pancreatic cancer. One of the most common genes for breast cancer is called CHEK2. It affects one out of every 161 people, and it gives you an elevated risk of colon cancer in addition to breast cancer. So, that's an important thing for people to know because knowing you have that gene not only allows us to screen you better for breast cancer, but also for colon cancer. When meeting with a genetic counselor or a provider like me with special training in medical genetics, we talk about different options for genetic testing. And the type of testing we typically perform now is called multi gene panel testing. It's where many genes are analyzed at once to help determine whether someone has an inherited risk for cancer. And so, that testing often relates to all the genes related to breast cancer, not just BRCA1, BRCA2.

Additionally, another misconception that people bring to me is that genetic testing is going to cost thousands of dollars. And really, until about 2015, testing did. But since then, with competition between laboratories and increasing insurance coverage, most patients pay between zero and $100. And at our clinic, patients have the option to self-pay for $250.

Another misconception I hear all the time is that genetic testing for cancer risk is less important for men, but both men and women can be born with mutations in genes that increase their chances of developing cancer. So, a BRCA gene running in someone's family can cause women in the family to develop breast or ovarian cancer. But men who inherit that gene mutation are kind of more at risk of developing other types of cancers, including prostate cancer, pancreatic cancer, and they still can be diagnosed with breast cancer. So, I just recommend that people don't overlook the men, and any men who have a strong family history of women in their family with breast cancer should also consider genetic testing. Siblings who have a gene, it tells me that that it's in the family somewhere, but their siblings have a 50/50 chance of inheriting the gene mutation

So, as many times as I've had a patient come in and say, "Well, I don't have to get genetic testing, because my mom had cancer and my sister had testing and hers was negative," I always say, you know, "That's great. I'm so glad for your sister, but she might've been the fortunate one that didn't inherit the gene, but you may have." And so, testing for a person especially if they're unaffected by cancer, doesn't necessarily mean that their siblings are also negative.

Host: That's so interesting. Thank you for sharing those. There was a lot that I did not know before hearing that.

Lauren O'Connor: One more thing, it brings me back to your aunt with breast cancer. I hope she also was tested for a concerning gene, because one of the more common misconceptions that I hear from patients is, "Well, I already have breast cancer, why do I care whether or not I have a gene?" It matters. It matters not only for your particular treatment because people with certain gene mutations may respond to certain treatments better, but also in terms of long-term risk of reoccurrence and prevention strategies, it is helpful to test the survivor. And whenever possible, I try to at my clinic.

Host: Absolutely. That is a very good point. Thank you for getting that in there. Appreciate it. Well, I'd love to know also, are there any lifestyle factors that can influence breast cancer risk, particularly in these individuals who are genetically predisposed?

Lauren O'Connor: Absolutely. So, of course, there are many things that we cannot change about ourselves that affect our breast cancer risk. But definitely, one of the most important that I feel passionate about is to increase one's activity level. Evidence is growing that regular physical activity reduces breast cancer risk, especially in women post-menopause. The main question now is how much activity is needed. Studies vary about that. I usually tell people to try to not be sedentary. A hundred and fifty to 300 minutes of moderate intensity, 75 to 150 minutes of vigorous activity per week is what the American Cancer Society recommends. But I just want women and men to just keep moving.

A cancer-friendly diet, plentiful in fruits, vegetables, whole grains, limited red meat, processed meat is also important for decreasing one's risk of developing breast cancer. In terms of other things to avoid, tobacco use will elevate your risk of developing breast cancer. Consumption of alcohol, risk increases with the amount of alcohol consumed. So, it's important to keep mindful of alcohol consumption. And we know that obesity increases risk, especially after menopause, because having more fat tissue after menopause can raise one's estrogen level. So, trying to keep a healthy weight is really important throughout one's lifespan, but especially after menopause.

Host: Absolutely. Thank you for that. Well, how do healthcare providers determine the best screening and prevention strategies for individuals with a high genetic risk of cancer then?

Lauren O'Connor: A few different ways. So, there are screening tools and models that help clinicians calculate or estimate a person's lifetime risk of developing breast cancer. Here at Duly, we utilize models like this to help assess not only a woman's lifetime risk of breast cancer, but also their 10-year risk of breast cancer. And I believe that those tools help me in shared decision-making to help determine screening and prevention strategies with patients. Knowing someone has a genetic risk is informative, because then we can use the current guidelines in setting forth a plan. Reassessing that plan on a yearly basis is also really important.

Changes in clinical cancer genomics are changing rapidly, as are the recommendations for screening and prevention. And the needs of the patients, of course, change too. A patient with a BRCA1 mutation who told me two years ago that she never wanted a risk-reducing mastectomy may decide next year she no longer wants the anxiety of awaiting results for her semiannual breast imaging, and now prefers to have surgery. Or someone who may have declined chemoprevention while premenopausal might be more interested once she has achieved menopause. So, we utilize the clinical tools like these models, the clinical guidelines, as well as, of course, patients and their autonomy and shared decision-making.

Host: Of course, of course. Well, what are the current guidelines for breast cancer screening and how do they incorporate genetic testing results?

Lauren O'Connor: So, the guidelines for breast cancer screening, there are several different bodies of decision makers that come up with guidelines. Most of the guidelines these days, the National Comprehensive Cancer Network, American College of Radiology, recommend that we start assessing a woman's breast cancer risk at around age 25. Those women who are considered high risk at about age 30 should begin annual or biannual screenings with mammograms and potentially MRI or breast ultrasounds depending on their level of risk as well as the density of their breast tissue. So, there are different pathways that one could go down in terms of screening depending on the level of risk. In terms of the genetic testing results, those women who have a known predisposition for breast cancer may actually start their screening imaging earlier, potentially as early as age 25, depending on the particular gene.

Host: Great. And as we wrap up here, Lauren, how do advancements in genetic testing technology contribute to early detection and personalized treatment options for breast cancer?

Lauren O'Connor: I always tell my patients in the high-risk breast clinic that are considering genetic testing that knowing you have a genetic risk for breast cancer expands my toolkit. Depending on the gene, screening imaging may start as early as 25 years of age, likely will include breast MRIs, the most sensitive imaging that is available right now for detection.

Options for prevention using medications and surgery might be available, and targeted options are available to those who are diagnosed with breast cancer and have an identified pathogenic gene. For example, there is a particular gene called PALB2 and it responds really well to PARP inhibitors. So, it is helpful to know that a person has PALB2 if they've been diagnosed with breast cancer, because that would be one of the things we'd want to utilize in their treatment.

Host: Well, just some really important information here today. Thank you so much for sharing, Lauren. And thank you for listening. If you found this podcast helpful, please share it on your social channels. And check out our full podcast library on your favorite podcast app or at dulyhealthandcare.com. This is Duly Noted, a health and care podcast from Duly Healthcare.