What Patients Should Know About Genetic Testing and Hereditary Cancer Risk

The discovery of one’s hereditary risk for cancer can be scary and challenging; and with numerous myths and misconceptions surrounding genetic mutations, finding accurate information can be hard.

Facing our Risk of Cancer Empowered (FORCE), established by breast cancer survivor and BRCA2 carrier Sue Friedman, helps individuals find accurate information and feel less alone, connecting them to support networks and specialists. At the 2019 American Society of Clinical Oncology (ASCO) Annual Meeting, Friedman sat down with CURE to talk about FORCE and what patients should know about genetic testing and hereditary cancer risk.

CURE: Why is it important for people to know more about genetic testing, especially in those families with a history of cancer?

Friedman: There are a lot of reasons why it’s important to know this information, and one of the things that’s been exciting that’s coming out of ASCO but also other conferences over the years have been these new agents known as PARP inhibitors that are really targeted therapies and they were designed specifically for people with BRCA mutations although now they’re looking at how they work in other mutations as well. And so, right now these agents are approved for people with mutations and in some cases without mutations for ovarian cancer. In metastatic breast cancer, we’re really excited because there were some data presented here about treatment for pancreatic cancer in patients with inherited mutations. These studies are particularly exciting to FORCE because we were part of the efforts to help recruit patients and accrue for these clinical trials. Watching the data mature and be presented and watching that they’re very promising and hopeful is really exciting to us and it allows us to go back to the community and share that hopeful information with them.

The 23andMe test is a trending topic in this space, what should patients be aware of when it comes to these tests?

So, it’s important for patients to know about 23andMe. There’s a lot of media around it and we watch the media and respond to it for one of our programs known as XRAYS, but, what’s important for patients to know is that although the (Food and Drug Administration [FDA]) did clear 23andMe to return results to patients for these mutations, this is a very limited test. Out of the 5,000-plus mutations that are in BRCA1 and BRCA2 alone, this test only finds the three mutations found in people of Ashkenazi Jewish or Eastern European Jewish descent. So, it’s not a complete test.

The other important thing for people to know is that the FDA cleared 23andMe to return these results to patients but then they did say that patients should not rely on these test results to make medical decisions — they recommend a confirmatory test. One of the things we really worry about is the possibility that somebody might test negative for BRCA1 and BRCA2 according to 23andMe test, and as I said, there are thousands of other mutations, so they may think they’re clear and they don’t have a mutation when indeed there actually may be a mutation that they’re carrying. So, we strongly recommend that people speak to health care providers that are trained in cancer genetics before and after undergoing genetic testing.

How can these patients become better informed on genetic testing and advocate for themselves?

There are a few ways patients can become better informed and advocate for themselves with regard to genetics. One is that, certainly, if they need information, they can come to FORCE. We have many programs; we have a lot of information. We help them find the professionals who are trained in genetics and provide general information about what the next steps may be. But really, for someone who’s considering genetic testing we recommend genetic counseling. So, seeing a health care professional who has advanced training in genetics. They can talk to them about benefits and limitations of genetic testing, the laws that protect people from things like genetic discrimination, they can make sure individuals have the insurance coverage and if not they can give them information about programs that can help them pay for it, may pay out of pocket because you know because the cost of genetic testing has gone down a lot and also give them information that will empower their family members because one of the things that make these tests really important and different from other cancer tests is that they are shared by relatives. Inherited mutations can be passed down from one generation to the next generation.