FDA and Direct-to-Consumer Genetics Testing

23andmeWhen 23andMe launched its first genetic test to the consumer market in 2013, the U.S. Food and Drug Administration (FDA) quickly ordered the company to stop marketing the test without necessary approvals as a medical device, citing the potential for harm to patients who change medication doses or have unnecessary surgeries based on test results. The company worked closely with the agency over the next several years. In April 2017, the agency granted approval to 23andMe for the first direct-to-consumer (DTC) test that provides information to patients on their genetic risk of certain diseases. In November 2017, the agency cleared the way for more DTC genetic tests to come to market, creating a streamlined regulatory review that clears companies to commercialize similar tests after undergoing a one-time review. Since that time, 23andMe has commercialized a number of genetic risk tests.

 

In early November, the U.S. FDA gave formal approval to 23andMe to market a new type of DTC test — a saliva-based genetic test that detects 33 variants of multiple genes that are associated with a person’s ability to metabolize and therefore respond to some drugs. Differences in drug metabolism can impact both the effectiveness of certain therapeutics or point to the potential for adverse events. However, the new 23andMe DTC test does not determine whether a specific medication is appropriate for a particular patient, and it doesn’t provide medical advice or diagnose any health condition. It does provide information that the patient can bring into discussions with their health provider, who is then is advised by the agency to confirm results using clinical pharmacogenetics testing before making any medical decisions.

 

The FDA approved the new test through a streamlined de novo premarket review pathway that the agency had designed for novel “low-to-moderate risk devices that are not substantially equivalent to already legally marketed devices.” The pathway sets forth “special controls” for such devices — criteria that call out the agency’s expectations in assuring such tests’ accuracy, clinical performance, and labeling. For the 23andMe test, these criteria included the requirement that labeling for the test must include a warning statement noting that the consumer should not use test results to stop or change any medication.

 

Within hours of granting its approval to the 23andMe pharmacogenetics test, the agency also issued warnings to health care providers and patients against changing treatments based on results from pharmacogenetics for indications that the agency had not specifically approved for marketing. The FDA also said it was looking into companies who were selling such tests for unapproved uses and that they might take compliance actions against such firms. In recent years, several consumer-facing genetic testing companies have launched pharmacogenetics tests without seeking FDA approval, claiming that because they were directing patients to order such tests through a third-party physician, they were meeting existing regulations. Some other companies were providing such information by doing no testing themselves, but instead analyzing raw genetic data generated by companies like 23andMe and using software to pull out the pharmacogenetics variants and reporting them to patients.

 

In particular, the FDA has expressed concerns about unapproved tests that claim to help identify which anti-depressants patients will best respond to or experience side-effects from. The agency says the relationship between DNA variations and the effectiveness of such medications has never been established.

 

Will potential FDA regulatory action against “unapproved” physician-ordered tests or software-generated providers of health information provide needed controls? Will such agency actions unnecessarily slow the introduction of potentially useful tests in the push towards personalized medicine and patient centricity? Or are new streamlined FDA regulatory policies governing such products sufficient to best balance the need for safety and accuracy with that for empowering patients with timely, actionable information?