On March 6, 2018, the U.S. Food and Drug Administration (“FDA”) authorized, with special controls, the first direct-to-consumer test to detect the presence of genetic mutations in the BRCA1 and BRCA2 genes (“BRCA genes”). The test, offered by the personal genomics company 23andMe, analyzes DNA from a consumer’s self-collected saliva sample for three mutations in the BRCA genes. Mutations in the BRCA genes are associated with an increased risk of developing breast and ovarian cancer in women, and breast and prostate cancer in men. However, the test only detects a small fraction of the more than 1,000 known mutations in the BRCA genes. The three mutations that the test does identify are most prevalent in people of Ashkenazi Jewish descent and are rarely present in individuals of other ethnic groups.

The BRCA genes are the same genes for which Myriad Genetics obtained patents after discovering their location and sequencing them. Myriad Genetics used its knowledge of the BRCA genes to create a genetic test for mutations in the genes. The Supreme Court later invalidated claims to isolated BRCA DNAs in Association for Molecular Pathology v. Myriad Genetics, Inc., 569 U.S. 576 (2013). The Court held that isolated BRCA DNAs, without more, are not patent-eligible subject matter because the same DNA sequences and informational content exist in nature. The decision opened the door for the development of tests for mutations in the BRCA genes by other companies.

However, FDA had withheld authorization for direct-to-consumer tests for mutations in the BRCA genes. In 2013, FDA sent a warning letter to 23andMe instructing the company to discontinue marketing its products until it received FDA market clearance. Since that time, 23andMe sought and received market clearance for several tests associated with other diseases and disorders, including a test for Bloom Syndrome in 2015 and a test for Alzheimer’s disease in 2017. 23andMe submitted a request for authorization of its test for mutations in the BRCA genes in September 2017.

FDA authorized the 23andMe test through its de novo premarket review pathway. The pathway is designed for reviewing novel medical devices that have a moderate risk—so-called Class II medical devices. When authorizing devices through this review channel, FDA identifies special controls to ensure the safety and effectiveness of the device. For the 23andMe test, the FDA identified three risks that require special controls: (1) incorrect understanding of the device, (2) incorrect test results, and (3) incorrect interpretation of the test results. The special controls, released on the same day FDA granted approval, largely focus on labeling information and require 23andMe to describe in layperson’s terms the import of positive and negative results.

The special controls notwithstanding, there is concern among the medical community and geneticists that consumers may misinterpret the results of their 23andMe test. Because the test only identifies the presence of a small percentage of the possible mutations in the BRCA genes, there is the possibility that consumers will erroneously conclude that they are not at risk for breast, ovarian, or prostate cancer if they receive a negative result. Critics argue that the 23andMe test is no substitute for more comprehensive genetic testing and counseling. That concern is compounded by a potential misunderstanding among consumers about the causes of the cancers associated with the BRCA genes. Other mutations are also associated with these cancers, and an individual’s genetic makeup is but one of the risk factors. In fact, most cases of breast cancer are not hereditary.

The concentration of the three mutations in a small subpopulation further complicates the interpretation of negative results. Most individuals are likely to test negative merely because they are not of Ashkenazi Jewish descent. The test, therefore, offers limited information and utility for a large portion of the population.

Conversely, there is concern that consumers may also misinterpret positive results. Positive results merely indicate an increased risk for the cancers associated with mutations in the BRCA genes. FDA specifically addressed this concern through its special controls by requiring a warning against using the 23andMe test “to determine any treatments or medical interventions.” But critics still worry that consumers may make poorly informed decisions based on the results, such as having prophylactic surgery to remove breasts or ovaries.

Nevertheless, FDA authorization means that direct-to-consumer genetic testing is here to stay for the foreseeable future. The test-maker, 23andMe, states that its BRCA gene mutation test provides “direct and affordable access to this potentially life-saving information.” The company further notes that its direct-to-consumer testing potentially gives access to genetic testing to individuals who do not meet clinical guidelines for genetic risk evaluations. According to the company, there is value in “a more consumer-driven, preventative approach to health care.” Consistent with the FDA’s special controls, however, 23andMe cautions against using its test as a substitute for recommended cancer screenings.