Direct-to-Consumer Genetic Testing: A Slippery Slope?

The Food and Drug Administration recently announced that genetic testing company, 23andMe, can inform people of their breast cancer risk linked to three specific BRCA1/BRCA2 gene mutations—without involving a doctor. These gene mutations are most common in people of Ashkenazi Jewish decent, but they are not the most common BRCA1/BRCA2 mutations among the general population.

The announcement sparked some debate. Is it a step forward in cancer care or cause for alarm? 23andMe believes that marketing these types of tests directly to consumers is “incredibly valuable for those who might not be aware of their Ashkenazi Jewish descent or aren’t familiar with their family history of cancer.” There’s certainly an argument to be made that open access to genetic information is a good thing—it can arm consumers with important information, help them take control of their health, and even save lives. But what if people misread, misinterpret, or do not understand the results?

Dr. Otis Brawley, the chief medical and scientific officer at the American Cancer Society, says, “Most doctors don’t understand this stuff, and that’s what genetic counselors are for.” Genetic counselors can help a patient interpret the results correctly and better understand their implications. This is especially important considering 23andMe’s test doesn’t paint a full picture of a person’s true cancer risk. Dr. Brawley’s colleague, Dr. J. Leonard Lichtenfeld, explains, there is a high likelihood that you could have a strong family history of breast and/or ovarian cancer, get a negative test and yet still harbor a mutation that could substantially increase your risk of cancer. In that case, “you might think you are off the hook, but you aren’t necessarily.” That can leave women with their guard down and create a false sense of security.

23andMe is the first direct-to-consumer test to determine a person’s risk for three variants of BRCA1/BRCA2, but there are plenty of other direct-to-consumer genetic tests on the market. Today, patients can go online to determine genetic variants linked to a specific type of diabetes and to a propensity for high cholesterol. They can also determine their ancestral origin or assess whether they have genetic predispositions to Alzheimer’s disease, celiac disease, or Parkinson’s disease. The options seem almost endless.

While most of these tests are physician-ordered, they tend to take doctors out of the equation when it comes to delivering results. In all fairness, several of these companies offer access to and recommend further discussions with genetic counselors or other providers. But it’s unclear how many patients follow through. That can leave them vulnerable. If they are misled by the results, they may make crucial decisions about future screening, preventive measures, or treatment based on misunderstood information.

So, where do we go from here? Direct-to-consumer tests are undoubtedly the way of the future, with increased accessibility and lower cost. But, unless physician follow-up is required by law, it’s up to consumers to be proactive about seeking counseling. It’s also up to the genetic testing companies to do their part. With their marketing power, they have a responsibility to provide consumers with information on appropriate follow-up—information that isn’t only found in the fine print but is front-and-center.

Lastly, public health education campaigns can make a difference. The Centers for Disease Control and Prevention’s (CDC) Bring Your Bravecampaign is one example. Using inspiring testimonials featuring women whose lives have been affected by breast cancer, it provides information about the disease to women under the age of 45. It also encourages women to speak with their health care providers. Throughout its materials and social media channels, the campaign includes strong calls to action about receiving genetic counseling and guidance from experts. The messaging is further articulated in the KNOW:BRCA tool, which is an online resource that helps women understand their risks for the BRCA1 or BRCA2 gene mutations. CDC is quick to point out the tool is not perfect and it is very important to share the results with a doctor. This messaging is more important than ever.

While we all need to be proactive about our health, we can’t—and shouldn’t—do it alone. The importance of building a relationship with our doctor, and seeing a specialist when needed, shouldn’t be ignored. Dr. Nancy Lee, former director of the HHS Office on Women’s Health suggests thinking about our doctor like a mechanic—they are there to help us, but we need to tell them what’s wrong so we can work together to make it better. We also need to share our family history and be honest about our habits and behaviors. The more our doctors know, the better equipped they are to make recommendations about the screenings we need and help us when those screenings come back with some not-so-good news.

Elizabeth Osborn, M.P.H.
Vice President