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Update on 23andMe; Time for a Review of FDA Definition of Medical Devices

Posted Dec 09 2013 12:00am

In a note on November 29, 2013, I discussed how the FDA was clamping down on the consumer-oriented genomic testing site called 23andMe (see: The Dispute between the FDA and 23andMe; What's Really Going On? ). Here's how  the company has decided to respond (see: Genetic Tester to Stop Providing Data on Health Risks) :

The company will continue to take orders for new tests but will provide only ancestry information and raw data, without interpretations of the health implications. It said it might resume providing health data if it receives regulatory approval.

Here's an excerpt from an email sent to me personally on December 6, 2013, as a previous customer:

If you are a customer whose kit was purchased before November 22, 2013, your 23andMe experience will not change. You will be able to access both ancestry and health-related information as you always have. 23andMe has complied with the FDA's directive and stopped offering new consumers access to health-related genetic results while the company moves forward with the agency's regulatory review processes....We stand behind the data we have generated for customers. Our lab partner adheres to strict quality standards that are part of the Clinical Laboratory Improvement Amendments of 1988 - known as CLIA. These are the same standards used in the majority of other health and disease-related tests. 

In my blog note, I suggested that the company should redefine its services in order not to fall under the FDA definition of a medical device. I also suggested that it put more warning labels on its reports. Ezra Klein provides some other ideas in Bloomberg View (see: 23andMe Challenges a Creaky Regulatory State )

...[T]here’s a benefit derived from upstarts such as 23andMe bristling at creaky, old rules: They force a re-examination of laws that are, sometimes, genuinely outdated.“The legal question is pretty simple,” said Daniel Carpenter, author of “Reputation and Power: Organizational Image and Pharmaceutical Regulation at the FDA.” The definition of a device under the Federal Food, Drug and Cosmetics Act, Carpenter said, “is anything intended for the use or diagnosis of a disease or other conditions.”But the FFDC was passed in 1938. The section on medical devices was updated in 1976. The personal genetic test ...didn’t exist when the regulations were written. The short-term plan for 23andMe is a traditional pay-for-product model in which consumers hand 23andMe $99 to test their saliva and get a genetic report. But the long-term play is more interesting: 23andMe wants to aggregate the genetic information of millions of individuals, then mine that data to make medical connections, find disease markers and discover treatments at a faster rate than would be possible using traditional techniques. It’s an experiment in big-data genetics. Consequently, the value of the product now...says very little about how effective and valuable it might be in 20 years.

In the FDA’s letter to 23andMe, it cites potential harms from genetic testing; all are bank shots. After all, swabbing your saliva carries very little risk. So the FDA focuses instead on the possibility that a test will lead consumers to do something else that actually harms them. Consider, the FDA suggests, a 23andMe test that reports a false positive for a cancer gene: “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.”Don Taylor, a genomics researcher at Duke University, delivers the obvious rebuttal: “Something has to happen in between that readout and the mastectomy,” he said. “There needs, for instance, to be a surgeon there.”The risk posed by 23andMe is closer to that posed by or fortune tellers than to the risk of having your health damaged by an X-ray machine. The danger isn’t that a genetic test will harm you directly but that you will act rashly on the information it provides. But is preventing patients from making bad decisions the FDA’s mandate? To Taylor, this is a “new technology bumping into an old regulatory approach.” The FDA is treating 23andMe as a medical device instead of as information.

I agree with Klein's arguments and ideas. First of all, it does not make sense to me for the FDA definition of medical device to encompass medical information. This definition dates back to 1938 with a revision in 1976. It's  out of step with modern genomics and the increasing importance of "big data." The FDA and other critics of 23andMe conveniently forget that physicians are interposed between data provided by 23andMe and, say, the performance of a mastectomy. In a similar way, the agency is blocking approval of digital pathology technology for primary diagnosis, forgetting that there is a pathologist interposed between the image of a biopsy and its interpretation.

One final point. There is still the possibility of false negatives with 23andMe reporting. This could result in a false sense of security about, say, the risk of a woman developing breast cancer if she is not aware of the limitations of this testing. Therefore, I will repeat my suggestion in my note of November 29, about the need for more rigorous warnings about consumers taking some action on the basis of 23andMe test results before consulting a physician.

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