By Rebecca Wang, MS, CGC
I remember when I first learned about the BRCA gene in one of my college genetics classes. We discussed that a mutation in the BRCA gene drastically increases a person’s risk for breast and ovarian cancer, and that there was a simple blood test that could help someone learn if they were born with such a mutation. At the time, a single laboratory held a patent on the BRCA gene and the corresponding genetic test. The price of a BRCA test was well over $2,000, which I found shocking. Here was a test that could help save lives, yet the price was prohibitive for so many people who could benefit from it.
In a landmark 2013 case, the Supreme Court ruled unanimously that human genes could not be patented. This freed up ownership of the BRCA test and was a huge victory for ensuring patient access to quality healthcare and allowing the medical community to further scientific advancements around the BRCA gene. The day after the Supreme Court decision, a number of other commercial laboratories started to advertise their offerings for BRCA testing. With more than one player in the market, the cost of testing quickly went down.
This June marks the five-year anniversary of this landmark legal ruling. In the last five years, there have been rapid developments in our knowledge of cancer genetics and the breadth of testing options. The rise of direct-to-consumer (DTC) genetic tests has also made genetic testing more widely available than ever, including some tests that provide information about inherited cancer risk. However, DTC tests pose a new set of challenges when it comes to accessing genetic tests.
As a genetic counselor, I have always been an advocate for patient access to important genetic technologies. But I also caution people to remember that not all genetic tests are the same. Direct-to-consumer tests that you can order without a healthcare provider do not meet the same technical standards as clinical testing, and ultimately provide a much more limited picture of your health risk. In the era of Amazon Prime, it may seem like the most efficient option to order a BRCA test for yourself online. But I think I speak for many an online shopper when I say that putting something in your cart just because it is convenient at the time often ends in regret. Genetic testing is no different. Ordering a BRCA test online may seem convenient, but genetic tests can be quite complex, and you may be left with unanswered questions after you receive results. Learning information about your risk for cancer is empowering, but it can also be scary without the proper guidance and support.
Like with any important purchase, I recommend you do your research before you commit to taking any action, and the Sarnoff Center offers a wealth of resources to help. You can start by reviewing a statement from the Sarnoff Center Board of Directors that outlines four key points for community members to understand when considering direct-to-consumer testing. Another good first step is to meet with a healthcare provider who specializes in cancer risk assessment to discuss your options. Genetic counselors and other clinicians can help provide access to the most comprehensive testing that is tailored towards your personal and family health history, and can guide you with what to do about genetic testing results. In my opinion, access to genetic testing is something everyone has a right to, but access to quality genetic counseling about test results is equally important.