FDA Approves Direct-to-Consumer Cancer Genomics

The US Food and Drug Administration (FDA) recently made 23andMe the first and only direct-to-consumer genomics company authorized to test for cancer risk without a prescription. The FDA authorized testing for three mutations found to be associated with increased cancer risk in persons of Ashkenazi Jewish ancestry. A 1997 study published in the New England Journal of Medicine¹ showed that by the age of 70 women carrying any of these three alleles have a 40–73% chance of having breast cancer and a 6–28% chance of having ovarian cancer, while men carrying any of these alleles have a 4–30% chance of having prostate cancer.

23andMe already provides personalized genomics information without the intermediation of a physician, raising important ethical concerns that I discussed in my article “Direct-to-consumer genomics: harmful or empowering?” published in the 2017 January/February issue of Missouri Medicine.² In the current instance, there are two concerns:

• A consumer who gets a report indicating that they carry one of the mutant alleles may over-react. While the odds of certain cancers are clearly much higher in such individuals, they are far from 100%. A decision to, e.g., seek prophylactic bilateral mastectomy should be weighed against the merits of simply getting more frequent mammograms and other screening. Other factors, such as other genetic factors, diet, weight and other environmental factors clearly influence the risk for any given individual.

• A consumer who gets a report indicating that they don’t carry any of the mutant alleles currently authorized for testing may conclude that their risk of cancer is negligible, even if they have first-degree relatives who had cancers. There are thousands of mutations described in hundreds of genes that are associated with elevated cancer risk. Regular screening (skin exams, colonoscopy, mammograms) is still indicated, particularly for individuals with a family history of cancer. The prognosis is always better with early detection.

Undoubtedly, many more cancer-predisposition alleles will be authorized for testing by 23andMe, as well as other companies. As I stressed in my 2017 Missouri Medicine article, the democratization of medical information comes with the burden of understanding what information is actionable and what action is appropriate. The amount of genomic information available to consumers without physician intermediation will only increase; so, too, will the burden of being responsible and informed consumers. Physicians—both primary care and specialists—must be prepared for the tidal wave of patient concerns awakened by this brave new world.