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Genetic Counseling for Cancer

Which patients should consider genetic counseling to gauge their risk for cancer?

What can you expect when you meet with a genetic counselor?

Learn more from Martha Thomas, a genetic counselor with the UVA Cancer Center.
Genetic Counseling for Cancer
Featured Speaker:
Martha Thomas
Martha Thomas is a genetic counselor at the UVA Cancer Center who meets with patients to discuss their family history of cancer and determine their level of risk.

UVA Cancer Center

Melanie Cole (Host):  Which patients should consider genetic counseling to gauge their risk for cancer and what can you expect when you meet with a genetic counselor? My guest today is Martha Thomas. She’s a genetic counselor at the UVA Cancer Center who meets with patients to discuss their family history of cancer and determine their level of risk. Welcome to the show, Martha. When should patients or anybody consider receiving genetic counseling to measure their cancer risk? That’s the biggest question.

Martha Thomas (Guest):  Sure. I think there are really two categories of patients that I tend to see. The first are patients that have actually been diagnosed with cancer, and when they first meet with the doctor to get that diagnosis, they say, “Gosh! There’s a lot of other cancers in the family. Could my cancer be caused by an underlying genetic reason?” Also, when individuals are diagnosed with cancers at young ages, we don’t expect to see colon cancers and breast cancers when people are in their 30s and 40s. That can raise a red flag as well. The other are healthy individuals that might come to me and say, “My grandma had breast cancer, my mom had breast cancer, and my sister just got diagnosed with breast cancer. Am I myself at increased risk of developing breast cancer?” Those are really the two categories of patients that I tend to see the most of.  

Melanie:  You’ve mentioned colon cancer and breast cancer. Are there other particular cancers that you can identify with genetic counseling their risk? 

Martha:  Really, any type of cancer can be connected to an underlying genetic predisposition. Breast cancer, colon cancer, ovarian cancer, and uterine cancers tend to be the big ones. Pancreatic cancers, I also see a lot of those. A lot of times, people don’t realize that certain cancers can actually be connected. For instance, a family history of pancreatic cancer and then having a woman diagnosed with breast cancer does raise some suspicions in my mind for a genetic predisposition, where a lot of people might not realize that breast cancer and pancreatic cancer can be connected. 

Melanie:  I didn’t realize that either. Now, people hear about genetic counseling. They get scared. We’ll talk about what you do with the information that you get, but what do you do for testing? If we’re testing, we hear about the BRCA gene for breast cancer. What is the test like itself? 

Martha:  Sure. Doing genetic testing is actually very straightforward. It’s just a blood draw. Testing actually radically changed in June 2013 after a Supreme Court decision that de-patented genes. There’s also been brand new technology that’s come out called next-generation sequencing, and this allows us, instead of just looking at one or two genes at a time, we can look at 10, 20, 100 genes all at the same time and get those results back within a month or so. Testing has really now moved from just one or two genes to looking at larger panels of genes to get a broader idea of what might be going on in an individual.

Melanie:  What kind of questions do you get from patients during a meeting? If they’ve already had the test or they’re considering it and you’re doing the family history evaluation, what are they asking you?

Martha:  A lot of people want to know what their risk of developing cancer is, particularly if they haven’t had a cancer. That’s a big question and sometimes we can’t answer that to the point that people are satisfied, just because that information doesn’t always exist. People also want information on how to interpret their results. A negative result is not always a clinically negative result. Sometimes walking through those fine details of “what was your result and was does this mean to you in your particular situation” can be really helpful for people.

Melanie:  Now, the big question, Martha, what do they do with the information? If they get that you have a genetic risk for breast cancer and we found the BRCA gene, how do you counsel them on making this really difficult decision on what to do with it? I don’t know that I’d want to know. Or can you change the outcome if you do have a positive result by prevention and other means?

Martha:  Sure. That’s the million-dollar question really. I do always emphasize that genetic counseling is not the same as genetic testing. If you want to come for genetic counseling just to learn about your risks and the options that are available for you but decide that ultimately you’re not interested in testing, that’s a completely fine decision. You don’t have to get testing just because you’ve come for the counseling. In terms of what to do with the information, we’re really in an exciting period in genetics that our knowledge is growing extremely rapidly, but we don’t have all the information that, again, a lot of people want. Yes, we can tell individuals that they are at increased risk of developing cancer, but a lot of times outside of surgeries or increased surveillance, there’s not much that we can do to really reduce the risks of developing cancer. There are some interesting trials going on with using aspirin and how it reduces the risk of developing colon cancer and there are some certain drugs that can be used to reduce a woman’s risk of developing breast cancer, but a lot of it is just giving people the information so that they can be more diligent about their screening and asking their doctors questions and making sure that they’re getting the preventative care that is really appropriate for them. 

Melanie:  There’s been some news in the media recently about preventive surgeries, prophylactic mastectomies and things along those lines. What do you tell people when they ask you, “Well, now if I’ve got this BRCA gene, should I have a double mastectomy?”

Martha:  Those are 100-percent personal decisions, and that’s actually what I think makes my job so interesting is I could have two different patients who tested positive for the exact same mutation in a gene and one patient might get her results and say, “Great! What’s the next opening in the OR? I want to do surgery this afternoon if I can.” Another patient might say, “Okay, that’s fine. I’m not ready to act on this yet,” or, “I’m not ready to act on this ever.” Those are really individualized decisions and I always emphasize, there is no wrong decision. As long as the patient has all of the information that they need to make the right decision for themselves, whatever decision they make is the right decision.

Melanie:  Do you involve the families in that counseling session? Do you want the spouses to sit there and listen to these results? I know that it could be individual and personal, but you as a counselor, do you want the family to hear all these things? 

Martha:  When it comes to genetics, I always say the more, the merrier. Genetics is unlike any other area in medicine because a person’s result doesn’t just affect them. It’s not like getting a cholesterol level or a CBC. Your genetic testing results have implications for your children, for your siblings, for your parents, so on and so forth. The more ears that can hear this information and the more open families are about sharing this information, I think the better. With spouses being involved when talking to their children or something like that, I do encourage that as much as people are comfortable with, because you do walk that fine line. We still obviously observe HIPAA and it’s not like if a patient’s sister calls me and says, “Well, what was my sister’s genetic testing result?” I can’t give that out to them, even though it could potentially have implications for their own health. It’s a really interesting ethical area to work in. 

Melanie:  In just the last minute or so, Martha, give the listeners your best advice for those considering genetic counseling and maybe even genetic testing, and why should patients come to UVA Cancer Center for their genetic counseling?

Martha:  The number one thing that I tell people before appointments is to get as much information as possible. A lot of times, there’s the “Oh, grandma died of some cancer in her stomach.” If we can really pinpoint what that cancer is, or even what treatment she had, sometimes that can be helpful for me. Gathering as much information as you can about the family history is really my number one advice. UVA is just such a cutting-edge institution. We really are on the forefront of doing testing on tumors that can give us indications for genetic predisposition syndrome. We are looking at new drugs and therapies that can potentially reduce individual’s risks of developing cancer. It’s just such an exciting innovating place to come, and with genetics, you want to be at an exciting innovating place because this stuff changes truly on a daily basis.

Melanie:  Thank you so much, Martha. It’s absolutely fascinating. You are listening to UVA Health Systems Radio. For more information, you can go to That’s This is Melanie Cole. Thanks so much for listening.