Dr. Tuya Pal, Associate Director of Cancer Health Disparities, discusses hereditary cancer syndromes, how we test and counsel individuals who may be at increased risk, and how these findings can influence health-related decisions in the future.
Welcome to this edition of the Vanderbilt Health and Wellness wellcast. I'm Shaina Farfel with Occupational Health. Today, I'm speaking with Dr. Tuya Pal, Associate Professor in the Department of Medicine, Division of Genetic Medicine, and Associate Director of Cancer Health Disparities in the Vanderbilt-Ingram Cancer Center. Dr. Pal, thank you so much for being with us today.
Dr. Tuya Pal: You are very welcome.
Shaina Farfel: You practice in the Hereditary Cancer Clinic here at VUMC. Can you define what hereditary cancer syndromes are?
Dr. Tuya Pal: Well, let's take a step back and talk about what our clinic is focused on. So, we evaluate individuals based on their personal and family cancer history to provide a full evaluation of potential inherited cancer conditions that they are at risk for in their family. That, in turn, determines what genes they may want to be tested for, which, in turn, could then inform what personalized management recommendations we would make to keep them healthy.
Shaina Farfel: What percentage of cancers are thought to be caused by mutations in genes that are passed down in the family?
Dr. Tuya Pal: If we are going to talk about hereditary cancer genes, because there are many genes beyond inherited cancer risk, we would say about 5-10% of all cancers have a hereditary basis. Some of the cancers have a higher proportion, others lower, but on average, I would say 5-10% is the number that we quote based on the literature.
Shaina Farfel: Who are the best candidates for genetic counseling and testing for hereditary cancers?
Dr. Tuya Pal: Ideally, we always like to start with a person in the family that has been affected with cancer, so someone who has had cancer at an early age, bilateral cancer, like cancer of both breasts or cancer of other paired organs. Male breast cancer is always a risk. So, there are specific red flags that we look for, the patterns of cancer that we are seeing in the family in an individual. Sometimes it's not possible to have a person impacted with cancer because they are either not available, they don't want to have testing, or they are deceased, in which case it is appropriate for an at-risk family member to come to our clinic for an evaluation for inherited cancer risk.
Shaina Farfel: How do you perform genetic testing? What does that look like?
Dr. Tuya Pal: Once we do an evaluation, we recommend specific genetic tests that a person could consider having. That testing is usually done on a blood sample or a saliva sample. That's generally how it's performed.
Shaina Farfel: How might genetic test results impact a patient's health and health-related decisions in the future for them?
Dr. Tuya Pal: Actually, with patients, it can impact their cancer risk management options. So, really, if you think about genetic testing, once we identify a specific condition, that, in turn, tells us, well, what are the risks for future cancer in this individual? Once we know what those health risks or cancer risks are, we can then figure out, well, what are potential medical management options that are available to us to keep them healthy based on the current evidence? And we do have evidence-based cancer risk management options available for many of the cancer risk syndromes. The other thing I'd say is - genetic testing is becoming more and more important at point-of-care, because even in the setting of an active cancer diagnosis, getting this information in hand may actually give the individual an opportunity for targeted treatments, because there are specific genes for which we have drugs available to treat those cancers. So, if you have an inherited cancer, and, for example, a BRCA mutation or a Lynch syndrome gene mutation, there may be treatments for which you'd become eligible because of the results of genetic testing. And lastly, I would say, once an individual is identified with inherited risk, it really makes it much easier to offer testing to at-risk family members, because if you think of each gene like a big set of encyclopedias, really, what we are doing when we are conducting the genetic testing is reading through the entire set of encyclopedias looking for a spelling mistake. So, once you know what the spelling mistake is, it becomes much easier to test family members to give them a yes or no answer as to whether they have it or whether they don't. If they don't have it, many times that puts them back to general population risk. Even when they have a very strong family history of cancer, and among those who do have the spelling mistake, it gives them the opportunity to be proactive with their health through both, you know, cancer prevention options or early detection options.
Shaina Farfel: For people who may be interested, what are the services and resources available for patients here at Vanderbilt? Is this something that is generally covered by insurance? I don't know if that's something you can answer.
Dr. Tuya Pal: Yes, generally it is covered by insurance, and just like every other clinic at Vanderbilt, we have a clinic that's focused on inherited cancer risk, so they can ... you know, individuals that are interested could certainly call our clinic for an appointment. The other thing I'd say is, through specific insurers, including the insurance that most employees at Vanderbilt have, which is Vanderbilt Aetna, that insurance actually covers visits through Telehealth. So, you don't even have to come in for an in-person visit. Again, we are working out means by which the initial visit can be done through Telehealth. So, that is still being worked out. That may not be an option, but for follow-up visits, again, those can all be done through Telehealth. So, an in-person visit is not always required and insurance does cover it.
Shaina Farfel: Wonderful. Well, thank you so much for sharing this information today, and hopefully this will encourage some individuals to seek care at the Hereditary Cancer Clinic, and we appreciate your time.