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Bill Klaproth (Host): The goal of the Winship Genetic Counseling Program is to provide patients with the most current information about hereditary cancer risk and guidelines for cancer screening and treatment. And here to talk with us about cancer genetic counseling, a new frontier of precision prevention is Christine Stanislaw, Director of Genetic Counseling at Winship Cancer Institute of Emory University. Christine thank you for your time. So, what is genetic counseling?

Christine Stanislaw, MS, CGC (Guest): Well thank you for having me and first let me start by telling you a little bit about genetic counselors. So, genetic counselors are individuals who have received advanced training in both medical genetics and counseling skills and through the genetic counseling process; counselors will share information and provide some personalized guidance on genetic health concerns like hereditary cancer risk and how the medical and family history may influence the likelihood of cancer and how the presence of inherited diseases or disease risk may impact that person or their family members and whether or not there are genetic tests that might be appropriate to consider and what the results of those tests could mean.

Bill: So, like in high school, you may have gone to your high school counselor; if you want to understand your genetic makeup; you go to a genetic counselor. Is that right?

Christine: Correct.

Bill: So, what does a genetic counselor do? How does this work?

Christine: Yes, so, when I see somebody for genetic counseling for hereditary cancer risk; that’s typically going to be about a 60-90-minute appointment and we start by reviewing family and medical history. So, we encourage patients before they come to think about their family history in advance and we always start by actually drawing a family tree and we ask about family members across three or four generations. So, this is going to be parents, siblings, children, extending to aunts, uncles, grandparents, cousins, sometimes even great grandparents. And when we are looking for hereditary cancer risk; we want to know individual’s current ages, their age and cause of death, who has had cancer, what type of cancer and approximately how old family members were when the cancer was diagnosed. Because mapping out the family history helps us to determine whether or not there may be an inherited risk for cancer in the family. And then once we have this information; we can talk more specifically about factors that contribute to hereditary cancer risk in that particular person’s family and then go on and talk about how genes may play a role in cancer risk and cancer development and what types of genetic testing might be available, who in the family might be the best person to think about doing genetic testing and how those test results are going to impact that individual and the family both in terms of immediate medical care as well as how that information might impact them emotionally.

Bill: So, is genetic counseling for all of us, or is it for mainly for those who are at a higher risk?

Christine: It’s mostly for individuals who have a higher risk and that risk can come in a variety of forms. We see individuals who have a personal history of cancer. Oftentimes it’s cancer diagnosed at a young age which is typically for us defined as under age 50, but we also do see individuals who have family history of cancer and again the family history is really key to us when we are thinking about the possibility of hereditary cancer risk. So, we are looking for either the same or related types of cancers like breast and ovarian cancer or colon and uterine cancer occurring in multiple individuals in the family especially if it is occurring through multiple generations. We are also looking for possible rare types of cancer that could signal a particular hereditary risk, things like male breast cancer for instance in the family. And then there are certain population groups who have a higher risk to carry specific mutations associated with increased cancer risk, for instance members of the Ashkenazi Jewish population have about one in forty risk to have one of three specific mutations in either the BRCA1 or BRCA2 gene that can lead to increased risk for breast, ovarian, prostate and pancreatic cancers.

Bill: So, you mentioned hereditary risk. How can cancer be passed down in families?

Christine: Well a lot of us have cancer in our families. So, it’s typical for people to be concerned about cancer risk in a family, but as a starting point I always like to point out to people that only about five to ten percent of cancer is truly likely to be due to a hereditary risk. Now, when the hereditary risk is present, it typically follows what we call an autosomal dominant pattern. Autosomal is just sort of a fancy scientific word meaning gender doesn’t matter. Cancer risk can be inherited equally from mom’s side of the family or dad’s side of the family. What dominant means is that if you remember back to high school biology, all of our genes come in pairs and in each pair, we get one from our mother and one from our father. In dominant genetic conditions, it only takes what we call a mutation or a change in a single gene in that pair to cause the elevated risk. And so, if a parent has a dominant gene mutation, then each of their children have a fifty-fifty chance to inherit the gene with that mutation.

Bill: So, understanding a potential increased risk is very, very important. So, for someone who wants to get tested, is genetic testing covered by insurance?

Christine: It oftentimes is. Most insurance companies have some degree of guidance in terms of who is going to meet their threshold for genetic testing for a particular condition. And some are more strict than others. But if someone does have a strong personal or family history of cancer; oftentimes they will meet those insurance company guidelines and testing will be covered.

Bill: So, staying with insurance, how could genetic testing impact someone’s ability to keep or obtain health insurance?

Christine: Well fortunately, there are some federal laws in place that deal specifically with genetic testing and genetic test results. There is a law called GINA, it stands for the genetic information nondiscrimination act and this was signed into law back in 2008 and what this does is it addresses health insurance as it relates to genetic information particularly, so group and individual health insurers including Medicare supplemental policies cannot use your genetic information to do anything in terms of setting eligibility, premium requirements, or contribution amount. And also, under GINA, genetic information cannot be considered a pre-existing condition.

Bill: Okay, that’s good to know. So, if someone is listening to this, saying to themselves wow, I really want to get tested; how can they make a genetic counseling appointment?

Christine: Yeah, well here at Winship at Emory, the best thing to do is to call our appointment line which is 404-778-1900 and request specifically an appointment for genetic counseling for cancer risk. If you have any general questions for our department; you can call 404-778-3685 and request to speak to a genetic counselor.

Bill: And in general, how much does genetic counseling cost?

Christine: Genetic counseling costs are going to vary by institution and they are also going to vary by coverage for individual insurance plans. Genetic counseling is a service that can be billed to insurance and is covered in many instances, in fact, some insurance companies actually require genetic counseling prior to testing for hereditary cancer risk. But if someone wants to be sure about coverage; we recommend that they check with their insurance company.

Bill: And if you could wrap it up for us Christine. What else should we know about genetic counseling?

Christine: Genetic counseling is a way to get additional information, to help decide whether or not genetic testing is the right choice for a particular individual and we are here to help. Sometimes it’s helpful to learn that the cancer risk in the family is not as high as what someone supposed, and we get that a lot. And sometimes genetic counseling and genetic testing even if the result is positive; can still be a positive experience in that it helps to provide an answer for what people have been seeing and experiencing in their family and we can use those test results to make positive changes in someone’s medical care that may help to decrease their cancer risk in the future.

Bill: I could see where knowing would be stressful on the one hand, but valuable on the other because knowing that you did indicate positive for potential cancer, at least you might be able to manage it then with lifestyle changes. Is that right, Christine?

Christine: Well we can never change our genes, but we can do some positive things in terms of increased screening. If we identify individuals for instance who have higher risk of breast cancer through genetic testing; we may start their breast cancer screening at younger ages, we may do it more frequently, we may incorporate different modalities for instance breast MRI in addition to mammogram every year for screening. For individuals who we find may be at increased risk for colorectal cancer, similar things. We may be able to start their screening at an earlier age. We may recommend more frequent colonoscopies with the goal of if cancer is going to develop; we are going to catch it when it’s very, very small and very easily treated.

Bill: Well that’s really good news and important information. Christine thank you so much for sharing that with us today and thank you for your time. For more information please visit www.emoryhealthcare.org, that’s www.emoryhealthcare.org. You’re listening to Advancing Your Health with Emory Healthcare. I’m Bill Klaproth. Thanks for listening.