POSTED BY Lloyd Chebaclo

23andMe, the direct-to-consumer genetic testing service, is partly on hold after the U.S. Food and Drug Administration (FDA) sent it a warning letter for marketing its Saliva Collection Kit and Personal Genome Service (PGS) “without marketing clearance or approval in violation of the Federal Food, Drug and Cosmetic Act (the FD&C Act).”

The company takes saliva samples from its customers and offers the customer the option to track her ancestral origins and trace her lineage with a “personalized analysis of your DNA.”  What drew the FDA’s attention is the health and disease-related analysis the company offers using the DNA samples.  The FDA asserted that the PGS product is a device under section 201(h) of the FD&C Act, 21 U.S.C. 321(h) “because it is intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, or is intended to affect the structure or function of the body.”  The FDA pointed to the company’s PGS marketing materials based on its November 6, 2013 review of the site that it provides “health reports on 254 diseases and conditions,” including categories such as “carrier status,” “health risks,” and “drug response,” and specifically as a “first step in prevention”  that enables users to “take steps toward mitigating serious diseases” such as diabetes, coronary heart disease, and breast cancer.

Some of the concerns here are that customers will rely on a service that has not been vetted under the Act to their potential detriment monetarily and in health outcomes.


Some of the uses for which PGS is intended are particularly concerning, such as assessments for BRCA-related genetic risk and drug responses (e.g., warfarin sensitivity, clopidogrel response, and 5-fluorouracil toxicity) because of the potential health consequences that could result from false positive or false negative assessments for high-risk indications such as these. For instance, if the BRCA-related risk assessment for breast or ovarian cancer reports a false positive, it could lead a patient to undergo prophylactic surgery, chemoprevention, intensive screening, or other morbidity-inducing actions, while a false negative could result in a failure to recognize an actual risk that may exist.

Currently, for customers of the genetic testing service 23andMe after November 23, 23andMe will no longer offer its interpretation of the genetic sequencing until it conforms to the FDA’s requirements.

23andMe appears to be working on bringing its health-related services into compliance with FDA regulations before bringing its full range of services back into the market.  The letter suggests that the FDA and the company have had a series of exchanges since 2009 in which the FDA has informed the company about steps it could take to comply such as through modifying product labeling and data it needs to submit for the intended uses of PGS, but it has not to date met agency standards.

A brief look at the FDA’s legal basis for the letter:

…23andMe must immediately discontinue marketing the PGS until such time as it receives FDA marketing authorization for the device. The PGS is in class III under section 513(f) of the FD&C Act, 21 U.S.C. 360c(f). Because there is no approved application for premarket approval in effect pursuant to section 515(a) of the FD&C Act, 21 U.S.C. 360e(a), or an approved application for an investigational device exemption (IDE) under section 520(g) of the FD&C Act, 21 U.S.C. 360j(g), the PGS is adulterated under section 501(f)(1)(B) of the FD&C Act, 21 U.S.C. 351(f)(1)(B).  Additionally, the PGS is misbranded under section 502(o) of the Act, 21 U.S.C. § 352(o), because notice or other information respecting the device was not provided to FDA as required by section 510(k) of the Act, 21 U.S.C. § 360(k).

 There had been unavailing efforts to classify the products in class II which would only require Premarket Notification or PMN, otherwise called a 510(k) clearance under the Act or de novo classification and not premarket approval (PMA).

While advances in applications of genetics such as new forms of gene therapy such as target gene editing to introduce beneficial genes appear to be on the horizon, this story seems to show that government agencies are staying active in upholding regulations to protect the consumer. Some suggest that this FDA action against 23andMe is a somewhat futile, narrow response to a broader movement of gene sequencing and interpretive services that would require a larger change in regulations.  Just prior to the FDA action, 23andMe had announced its plan to use a new custom microarray chip to genotype its customers which would use probes to detect single nucleotide polymorphisms (SNPs) selected by its researchers to “maximize the number of actionable health and ancestry features available to customers as well as offer flexibility for future research.”  As discussed, the health reports associated with the new methods will not be marketed, pending FDA authorization.

23andMe is supported by Google, which also funds the ambitious Calico project intending to use its vast data processing capabilities to research new approaches to counteract mortality and aging.  A class action lawsuit has since been filed against 23andMe alleging false and misleading advertising.

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