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Melanie Cole (Host): If you or one of your close relatives has been diagnosed with a type of cancer, you may have concerns about whether cancer runs in your family. My guest to tell us about this today, is Heather Marin. She’s a genetic counselor at The Women’s Cancer Center. Heather, I’m so glad to have you on with us today. What a great topic. It’s something that we all think about is that hereditary predisposition to cancer. First, tell us a little bit about what is an oncology genetic counselor?

Heather Marin MS, LCGC (Guest): Hi Melanie. Thank you for having me on today. I think it might first help to understand who genetic counselors are. Genetic counselors are professionals who have advanced training in both medical genetics and in counseling services as well. And we can certainly help patients make decisions about genetic contributions to their health and provide information about how genetics may affect them or even their family members.

We can help patients navigate through if genetic testing would be helpful and which tests may be most appropriate for them. And like other professions, genetic counselors can work in a variety of settings which can include a clinical setting where we see patients or an industrial setting such as a lab that does the genetic testing or even in research as well.

So, oncology genetic counselors then, primarily work with patients who have had cancer and also with their family members.

Host: Then tell us a little bit about the role that inherited trait plays in developing cancer. People don’t really understand how that all works.

Heather: Okay. So, genes are small sections of DNA or genetic information that helps makes proteins and the proteins then, they are what goes into the body and help in maintaining our normal functioning. So, what I’m looking for are alterations or what we call mutations which are concerning changes in the DNA. And a mutation is associated with a harmful effect such as an altered or an absent protein and then in this case, that increases the risk of disease.

So, mutations, they can be inherited from one or both parents and be present in every single cell in the body or they also be acquired during life from events like repeated sun exposure, or tobacco exposure and only be present in certain cells. So, what I’m looking for are those hereditary cancer syndromes. They are typically caused by those mutations that can be inherited and those mutations can act as a risk factor and place an individual at higher risk to develop cancer even from before the time that they are born. And those mutations do not mean an individual will develop cancer, but it certainly does increase their risk.

Host: Wow, what a great explanation Heather. So, are very many cancers hereditary?

Heather: So, typically, only about five to ten percent of cancers are hereditary, but certainly we have another category of cancers, also called multifactorial where it’s part genetics and part environment. And this is where family history plays a huge influence on health risks. So, we certainly know that many health conditions such as diabetes, heart disease are due to genetic and environmental factors and many cancers can follow that same inheritance pattern as well.

So, for example, many breast cancers are not caused by these changes in DNA, but certainly having a close family member with breast cancer can increase your risk to develop breast cancer over someone in the population that doesn’t have that same family history. So, you can’t change the information you’ve inherited from your parents, however knowing that information can help you take measures to reduce your risk of developing those health problems. So, in addition, screening tests like mammograms and colonoscopies, they can detect cancer at an early stage, when outcomes are the most favorable.

So, when I’m taking a family history, I typically will ask for very detailed information about cancer types, and ages of onset for their parents, their children, siblings, nieces, nephews, grandparents, grandchildren, aunts, uncles and cousins in the family. I’ll even go out to great grandparents if they have that information and certainly the easiest way for them to get that information is to talk to your relatives about their health and determine what might be appropriate for you moving forward.

Host: So, family history plays such an important role as you’ve just described. Then who should be referred to an oncology genetic counselor and when?

Heather: Sure, absolutely. So, individuals might pursue oncology genetic counseling if they have a personal or a family history of certain cancers that have features that are suggestive of a hereditary cancer condition known as a syndrome. So, these features are going to vary by the type of the cancer and the specific syndrome that we are looking into. So, concerning family history, that can be on the mom’s side or it can be on the dad’s side as well. I certainly hear many women that say well there’s breast cancer in my family, but it’s on my father’s side so I don’t have to worry about it.

And that is certainly a misconception that is untrue. We worry about dad’s side just as much as we do mom’s side. So, then back to your question. Some of the common indications that we see for genetic evaluation would include someone who has been diagnosed with say breast or colon, uterine or kidney cancer at a young age of onset which is usually under the age of 50 years. And that would be an appropriate referral to us or their family members as well. If you have a sister that was diagnosed under the age of 50 with breast cancer. That would be an appropriate indication for referral as well.

Other types of cancer that would warrant a referral are individuals that have ovarian, or pancreatic cancers in their family members as well. And these types of cancer can be diagnosed at any age in the family and their genetic makeup might have implications for their medication management moving forward. So, it’s important for us to see those people too.

And then we have individuals that have had cancer more than once. Say for example, you have had a uterine cancer and five years later you develop a colon cancer. Well that’s not something we would expect to see every day. So, it puts them more in a higher risk category that may be there is something in their DNA as are people who have had cancer diagnosed more than once in a paired organ. So, for example they have cancer in both of their breasts or in both of their kidneys.

And then we certainly see individuals that have cancers that are clustering in families. I had a lady recently that her mom, her maternal grandmother, a maternal aunt and a maternal first cousin all had ovarian cancer and that’s certainly a clustering of the same cancer type in close relatives and in multiple generations.

And then one of the last categories that we see are rare presentations of cancer as well. For example, these are maybe a male that has breast cancer. So, certainly something that we can see but not something that you would necessarily expect to see on an every day basis.

Host: I think one of the biggest questions that people have, Heather, and I myself am an Ashkenazi Jew, so I know about the BRCA gene and know about that risk. If someone decides to see you and they want to get the genetic counseling. The big question is what do you do with the information? Tell us a little bit about how you counsel patients, what is risk reduction surgery, prophylactic mastectomies. How do you make such a big decision with the information that’s presented to you?

Heather: Sure. It’s a great question. So, with respect to cancer, risk reducing surgery is just that. It’s surgery to remove at risk tissue to decrease the chance of developing a cancer. So, for example, women who carry an inherited BRCA or BRCA gene as you’ve mentioned, have a significantly elevated chance to develop breast and ovarian cancers and due to those elevated chances, some of those women who carry a BRCA gene mutation and do not have a personal history of cancer; opt to have surgery to remove their ovaries, their fallopian tubes and even in some cases, their breasts. These surgeries will reduce the chance of developing a cancer in those body parts by as much as possible.

And if surgical intervention is not desired by the patient or maybe not recommended based on the patient’s medical history; we certainly think about maybe doing more enhanced screenings that can be in terms of imaging for the breasts or the ovaries and blood tests and clinical exams as well. So, it also kind of depends Melanie on the age of diagnosis. Certainly, when you are diagnosing a woman with a BRCA gene mutation who is 65 for example; that is very different than diagnosing an individual who is 25 with the same condition. So, you have to take childbearing and psychosocial situations into account as well.

Host: Really good points and another thing that many people worry about is with that information; are you then now considered by the insurance companies to be at risk? Does it make it difficult for you to get health insurance or life insurance or any of those things? Is this secret information?

Heather: That’s another great question. So, any patient who goes through testing, that information is in their chart. So, that is information that is disclosed to insurance and their physicians and other healthcare providers just so that we can best appropriately care for them and get the again, appropriate screenings and or surgeries. So, I talk with patients before we think about pursuing testing. If they have a diagnosis of breast or ovarian cancer; it’s a very different situation than if they do not have a diagnosis of cancer. There is a federal law known as GINA or the Genetic Information Nondiscrimination Act and that will prevent discrimination for your healthcare insurance and your employment insurance based on your genetic statics. So, those things should not be compromised.

But if you do not have a history of cancer yourself, and you were to test positive for one of these gene mutations or alterations; then you now have a pre-existing condition. So, those GINA protections do not extend to life insurance, long-term care insurance and disability insurance. So, for those individuals that are thinking about undergoing testing say due to a family history; I talk to them long and hard about maybe thinking about getting those benefits in order and getting them approved before we would think about looking at their DNA.

Host: Wow, that is so informative Heather and what great advice. So, what would you like people to know about cancer, awareness, the latest advancements in genetic testing and asking the right questions, knowing what to ask a genetic counselor and how someone can get an appointment with you?

Heather: Absolutely. So, I certainly think that in this era, genetic testing is becoming more and more prevalent and I think it’s going to utilized more and more to assess our health risks moving forward. So, again, I think one of the big things individuals can do is have the discussions with your family members, find out the cancer diagnoses in the family and the ages of onset and the causes of death and present that information to your healthcare provider so that they can potentially send you for additional evaluation.

I tell individuals all the time that even if you were not considering doing genetic testing, we certainly will evaluate patients to kind of go through their medical history and identify some of those risk factors to be able to recommend particular screening for them. So, just because a patient is not the best genetic testing candidate; it does not necessarily mean they don’t need to have their breasts evaluated more often than someone else in the population. So, we certainly help with all of that. Your healthcare provider can always send you to see me for a consult. Our phone number here is 812-842-2210. I’m at the Women’s Cancer Center which is a department of the Women’s Hospital. Providers within the Deaconess or the Women’s Hospital system can also send those referrals via our electronic medical records system which is known as Epic.

Host: Wow. What a great segment. That was so informative. I know that I learned a lot Heather. So, thank you so much for coming on and explaining so very clearly all the implications and awareness and really the importance of family history when you want to know if you are at risk for certain types of cancers.

To make an appointment for genetic counseling with Heather, ask you doctor for a referral or call 812-842-2210. That wraps up this episode of The Women’s Hospital—A Place For All Your Life. Head on over to our website at www.deaconess.com for more information and to get connected with one of our providers. If you found this podcast as informative as I did, please share with your friends and family on social media and be sure to check out all the other fascinating podcasts in our library. I’m Melanie Cole.