Direct-to-Consumer Genomic Testing: A Regulatory Debate

On November 23, 2013, the US Food and Drug Administration (FDA) issued a warning letter to the company 23andMe, stating that its Saliva Collection Kit and Personal Genome Service (PGS) is “intended for use in the diagnosis of disease . . . or in the cure, mitigation, treatment, or prevention of disease,” and as such requires FDA approval. But it is being marketed to consumers “without marketing clearance or approval in violation of the Federal Food, Drug and Cosmetic Act.”¹

The FDA cited the company’s marketing materials, stating that the kit provides “health reports on 254 disease and conditions,” including categories such as “carrier status,” “health risks,” and “drug response,” as well as describing the kit as a “first step in prevention” that “enables users to take steps toward mitigating serious disease.” The kit is therefore a “medical device,” subject to the regulations of research and standards applicable to devices. According to the FDA, “most of these uses have not been classified and thus require premarket [FDA] approval or de novo classification.”

The decision of the FDA has generated much controversy. To gain insight into this complex issue, Monthly Prescribing Reference interviewed two experts in genetics. George M. Church, PhD, Professor of Genetics, Harvard Medical School, and Director of the Personal Genome Project, spoke in favor of the right of 23andMe to market its Saliva Testing Kit and Personal Genome service. George Annas, JD, MPH, Chair, Department of Health Law, Bioethics and Human Rights, Boston University School of Public Health, defended the position of the FDA.

POLL: Do you think direct-to-consumer genetic testing kits pose a threat to patients?

George M Church, PhD

Do you think the services offered by 23andMe fall under the purview of the FDA?

My understanding is the most genetic testing has not been performed with the involvement of the FDA. Historically, this type of testing has not fallen under the concept of a “medical device.” It is merely the provision of information via a testing process that does not require FDA approval. From a legal point of view, 23andMe did not have to turn to the FDA for approval. But having done so, the FDA conceptualized the PGS as a “device” and subjected it to the same standards as apply to other devices.

Does having this information directly from a lab pose a potential threat to consumers?

I think the threat is unlikely. This is an age of information, and having information can empower individuals to take charge of their health. Studies have shown that individuals who learned that they have increased genetic risk of cardiac disease, for example, have been more motivated to make necessary lifestyle changes. Although I think that it is preferable for people to go to their physicians and be tested through them, it’s legitimate and can be helpful for a person to use direct-to-consumer testing and then take it to his or her physician. In this day and age, tests that were once conducted only in physicians’ offices, such as pregnancy or blood glucose tests, are available to the consumer, who is expected to bring the results to his or her physician. Individuals are now being allowed direct access to their medical records and imaging or labwork results. And 23andMe’s marketing materials urge consumers to discuss their genetic profile with their physician.