23andMe and the FDA.

Annas GJ1, Elias S.

Author information

PMID:: 24520936; [PubMed - indexed for MEDLINE]

Free full text

David L. Keller, MD,MS 2014 Mar 14 3:48 p.m.

Regarding the New England Journal of Medicine's editorial concerning 23andMe and the FDA

The two most important questions regarding a direct-to-consumer commercial genetic testing lab (such as 23andMe) are:

1) Analytical validity: does this lab report accurate raw genetic test data ?

2) Clinical validity: does this lab provide accurate assessment of the statistical probability of disease associated with the raw genetic data ?

Analytical and clinical validity are required of any genetic test, and both should be enforced by the FDA. Has 23andMe been accused of any specific cases of reporting erroneous raw genetic test data to consumers? Has 23andMe been accused of reporting erroneous statistical probabilities of disease associated with the genetic data of any patient? No such allegations appear in this editorial.

The FDA also expressed concerned about confused individuals misusing their genetic test results, such as by inappropriately adjusting their own warfarin dose or requesting mastectomy. These examples of harmful outcomes are improbable and unrealistic because of the safeguards in the medical care system. Patients must obtain warfarin prescriptions from clinicians, whose duty it is to explain the need to closely monitor the INR anti-coagulation test regardless of a patient’s genetic profile. Similarly, it is absurd to believe that any surgeon would perform a mastectomy based on a single saliva sample. There would be layers of confirmatory testing first.

The editorialists predict approvingly that, within a decade, “a majority of health plans will make it easy for their members to have their genomes sequenced...with or without the help of their physicians” but that this goal will first “require a massive data bank of genome reference materials”. They fail to explain how progress toward these goals can be maintained despite the FDA’s actions against 23andMe, for which the editorialists also express approval.

I propose that the FDA conduct confirmatory testing of genetic samples, in order to test the analytical validity of 23andMe and other genetic test labs. This should be done at the expense of the commercial labs. The FDA should also confirm the clinical validity of the genetic tests by statistical analysis of the association between variations in raw genetic data and the probability of disease, as included in the lab’s reports to patients and physicians.

Finally, no commercial testing lab or medical equipment manufacturer should be held liable for the unauthorized misuse of their product or service, provided that adequate warnings have been supplied to the consumers involved.