FDA and 23andMe Restart the Regulatory Process for Oversight of Genetic Testing Services

The need for regulation of genetic testing offered by genomics companies has been debated for years, accompanied by mixed signals from the FDA over its role in such efforts. The bulk of genetic testing services offered by private companies are offered as laboratory-derived tests (LDTs) that are purchased from the test developer. Laboratories providing LDTs are regulated under the Clinical Laboratory Improvement Amendments (CLIA), administered by the Centers for Medicare and Medicaid Services (CMS), which requires that laboratories meet specified standards, and that individual tests are scientifically accurate, but which does not evaluate the clinical validity or clinical utility of LDTs. In addition, direct to consumer (DTC) genetic tests are offered directly to the public and do not require a medical intermediary; results are provided to the client. The industry has long argued that its services were simply LDTs that did not require formal review as medical devices, but simply had to meet the general CLIA standards for clinical laboratories. However, the FDA has recognized that genetic testing may pose special concerns that warrant specific attention and reacted accordingly. In 2010, the FDA sent warning letters to a number of genetic testing companies, including 23andMe, advising them that their genetic services, although direct to consumer, met the classification of a device that required FDA approval as medical devices. A Government Accountability Office (GAO) investigation in 2010 found that several companies provided inconsistent results to undercover consumers, and that the information provided also did not line up with the consumer’s actual clinical status. The Federal Trade Commission, publishes consumer alerts stating that DTC genetic tests may not be reliable and warning that consumers may be deceived by marketing claims. 

23andMe has offered several kinds of genetic testing, ranging from tests assessing risk for an individual disease or condition to aggregate testing for hundreds of DNA variants across an individual’s genome. A consumer receives information regarding possibly significant DNA variants identified in her genome, as well as a health report from the company assessing medical risk based on the genetic data. The FDA was most concerned about the company health report because it could form the basis for consumer medical decision-making using possibly weak or non-credible information. In 2012, 23andMe announced that it had filed a premarket notification submission to the FDA for its $99.00 Saliva Collection Kit and Personal Genome Service (PGS), a service offered since 2008. However, the company did not properly respond to the FDA’s inquiries and comments in the period that followed. As a result, in November 2013, the FDA ordered 23andMe to cease offering the (PGS) test product; the company complied and announced that its health reports would be discontinued (only providing "uninterpreted raw genetic data"). Now, the company has announced the filing of a premarket submission for a genetic test for Bloom’s syndrome – indicating a restart to its regulatory path with the FDA and even optimism: 

Once cleared, it will help 23andMe, and the FDA, establish the parameters for future submissions. More importantly, for our customers, it marks a baseline on the accuracy and validity of the information we report back to them. The submission includes robust validation data covering major components of our product such as the genotyping chip, software and saliva kit. 

As the contours of the regulatory process traveled by 23andMe for its services becomes clear, other personal genetic testing companies are likely to follow suit and the FDA could begin to offer an orderly oversight structure for the products and services offered by this industry. Given the status of 23andMe as a flagship genomics company, and the hesitant moves by the FDA over these several years, the outcome of this submission and review will sketch out a regulatory path for the industry. However, reaction to FDA involvement is mixed; critics contest the level of consumer harm created by these products and argue that consumers should have the right to obtain their genetic data without government interference, noting the First Amendment right to receive information. Future consumers might contest excessive regulation on that basis.