The company sought regulatory approval for selected DTC genetic tests from the FDA last year following the 2010 decision that any such tests evaluating an individual’s risk of disease (however low) were in effect medical devices requiring regulatory approval (see previous news).
A warning letter from the FDA released today reiterated this decision and required 23andMe to cease sales of their Personal Genome Service (PGS) unless or until regulatory approval is given ‘as FDA has explained to you on numerous occasions’.
The agency said that if the company's risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo preventative surgery, intensive screening or other potentially risky procedures. A false negative, on the other hand, could result in a failure to recognize actual risk.
The FDA highlighted specific safety concerns about the medical applications of 23andMe’s service, notably BRCA-gene related cancer risk (ie. the presence or absence of mutations conferring a very high risk of disease) and genetic variants that affect drug responses. They pointed out that false positive or false negative results for such variants could have serious health impacts, by falsely directing patients and clinicians to take action (eg. undergoing intensive screening or prophylactic mastectomy for perceived high risk of breast cancer, or taking inappropriate doses of drugs).
Whilst the overall US stance on DTC genetic testing seems potentially excessive from a UK perspective, this development does not actually appear unreasonable; a regulator must be seen to actively enforce regulations in order to be effective. Moreover the FDA says it has been working diligently since 2010 to help the company comply with the regulatory framework, but that: ‘even after these many interactions with 23andMe, we still do not have any assurance that the firm has analytically or clinically validated the PGS for its intended uses’. The company is therefore barred from sales of the service for any potential medical applications until the necessary data is submitted and a regulatory decision made.
23andMe have released a statement saying that ‘we recognize that we have not met the FDA's expectations regarding timeline and communication regarding our submission’ and promising to address their concerns, although interestingly it did not specifically mention cessation of sales or say directly that they would comply with the FDA's warning.