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.
In its first law enforcement action in the personalized genomics sector, the Federal Trade Commission (FTC) has entered a final consent order against several personal genomics companies for engaging in business practices that deceived consumers. In general, personalized genomics companies follow several business models. A company may offer genetic testing services in which a consumer pays to have her DNA analyzed for mutations that, in the company's claim, are alleged to correlate with various medical conditions or susceptibilities. In another model, genomics companies provide genetic testing and also offer products which are alleged to treat or alleviate the medical conditions identified by the DNA testing. GeneLink, Inc. and its former subsidiary, foru International Corporation, followed the second model and offered what were claimed to be “genetically guided personalization of nutrient and skin care formulations” as part of a general anti-aging portfolio of services and products. The FTC filed a complaint against GeneLink and foru for statements and practices that violate the Federal Trade Commission Act, which prohibits false advertising and “unfair or deceptive trade practices.” The FTC complaint recited promotional materials from GeneLink:
[B]y analyzing and understanding your unique genetic strengths and weaknesses, you can eliminate the guesswork and “genetically guide” the optimal nutritional supplement or skincare formulation to match your LifeMap Healthy Aging Assessment®.
The FTC cited the scope of the claims made by GeneLink:
According to ads and other promotional materials, the supplements could treat serious conditions like diabetes, heart disease, arthritis, and insomnia. Claims for the skin serum cited a “double blind, randomized and controlled study” and promised the product would “compensate for particular deficiencies in areas of skin aging, wrinkling, collagen breakdown, irritation, and the skin’s ability to defend against environmental stress.”
The violation of the FTC Act was recited in the complaint:
12. Through the means described in Paragraph 11, respondents have represented, expressly or by implication, that genetic disadvantages identified through respondents’ DNA Assessments are scientifically proven to be mitigated or compensated for with nutritional supplementation.
13. In truth and in fact, genetic disadvantages identified through respondents’ DNA Assessments are not scientifically proven to be mitigated or compensated for with nutritional supplementation. Therefore, the representation set forth in Paragraph 12 was, and is, false or misleading.
Following a period of public comment, a final consent order was entered to settle the charges brought against the companies. The companies are now prohibited from offering products for purposes not supported by credible scientific data and the level of scientific support required for health-related claims is specified:
“[C]ompetent and reliable scientific evidence” shall consist of at least two adequate and well-controlled human clinical studies.
This FTC action no doubt puts the personalized genomics sector on notice that dubious claims for genetic “treatments” will be subject to FTC monitoring and enforcement actions. This action also exemplifies how the FTC, as the federal consumer protection agency, employs its broad mandate to capture many potentially deceptive business practices in a high-technology areas: the companies were also charged with inadequate data security practices with respect to the collection of consumer information, and the consent order further requires the companies to institute appropriate data security measures for any future data collection. More generally for the genomics sector, the FTC action follows the Food and Drug Administration's (FDA) 2013 warning to 23andme, one of the leading providers of personalized DNA testing, that its services constituted the marketing of an unapproved medical device in violation of the Federal Food, Drug and Cosmetic Act; the company then took corrective actions in removing certain health-related reporting from its products.
