Genetic Testing for Cancer: Beyond BRCA

We’re in the final days of September, which means National Hereditary Breast and Ovarian Cancer Week is well underway. This week, organized by FORCE (Facing Our Risk of Cancer Empowered), serves as a link between the national ovarian and breast cancer awareness months. It’s a time to call attention to the fact that up to 10 percent of breast cancers and up to 25 percent of ovarian cancers are hereditary.

By hereditary, I mean that these cancers developed in people who are at higher risk because of their genetic makeup. Most people to this day are unaware of their increased hereditary cancer risk and what they can do about it -- something advocates hope to change with this important awareness week.

So, how does someone find out they’re at increased risk? One way is through family history -- if a parent, grandparent, cousin or other close relative (even male relatives!) has had cancer, particularly before the age of 50, it could be a sign of a hereditary form of cancer. To know for sure, genetic testing is often the next step. And for many, that means genetic testing for the BRCA1 and BRCA2 genes.

But in honor of this week, I wanted to raise awareness about an important detail I’ve focused on for much of my career as a genetic counselor: there are other genes beyond BRCA that are associated with higher breast and ovarian cancer risk. If you’ve thought about genetic testing for cancer, this is an essential detail that could make a difference in your healthcare.

Don’t get me wrong -- BRCA alone still warrants a lot more awareness and education in the general population -- it’s even an initiative at the CDC! But the key is also knowing that many genetic tests can now simultaneously screen for BRCA, as well as other genes that significantly increase the risk of breast or ovarian cancer. For example, conditions like Lynch Syndrome as well as genes such as PALB2, are associated with an increased risk of ovarian and breast cancer, respectively. Beyond these, there are several other genes with a clinically proven link to higher risk.

Finally, don’t be overwhelmed by thinking that now you have to decide whether you want testing for just one or two genes vs. testing for ten or more. You generally don’t get these tests is an a la carte fashion and don’t need to make an independent decision on each gene. Simply ask yourself “Do I want to know whether I am at increased risk so I can take steps to address that risk?” If you are looking for a line to draw, many clinicians, including myself, believe that testing should be focused on genes where you can take action. What I mean by that is focusing on genes where there are national medical guidelines available that recommend what screening, medications or other proactive steps might be helpful for you. You want a test that helps you take action and prepare for the future, not one that leaves you with nothing but worry and questions. So as you explore your options, speak with your doctor or genetic counselor to make sure the test they’re offering you fits the bill.

And while the focus may still be on BRCA for now and the years to come (thank you FORCE and @BRCAresponder for your tireless work), others like Georgia Hurst (@SheWithLynch) and David Dubin (@AliveAndKicknDD) are getting the word out about other high risk genes. I hope I’ve done them justice by sharing this information here!

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