Why the FDA Is Cracking Down on Do-It-Yourself Genetic Tests: An Exclusive Q&A

Fresh off sending stern letters to five consumer-genomics companies indicating that, as currently marketed, the companies' tests will require clearance by the FDA, Alberto Gutierrez—the agency's director of the Office of In Vitro Diagnostics in the Center for Devices and Radiological Health—spoke to NEWSWEEK. Among the revelations: Pathway Genomics, the company that started the controversy by planning to sell its test in drugstores, will be withdrawing from the direct-to-consumer market. Gutierrez also clarified the agency's reasoning and timing. Excerpts:

Just to clarify, it sounds like these consumer-genomics tests—as they're marketed now—will require pre-market clearance because they qualify as medical devices under current law. Is that correct?
That's correct.

Why is this happening now instead of three years ago, when direct-to-consumer genomics tests first came to market?
Well, the claims [made by the companies] have changed constantly. The original claims from three years ago were very, very vague. For example, the claims they're making now for the different drugs and how they're metabolized, those weren't being made previously. Even some of the health claims in terms of risk of chronic disease, those just started coming online about a year ago.

So the problem is that the companies are testing for genetic variants that might affect the way consumers make medical decisions?
That's correct … If you're making a claim about [a genetic variant that affects the metabolism of the anticoagulant drug] warfarin, and somebody decides based on the result they get that they want to change their dosing, that is a fairly risky decision. That could affect their health. If they're not feeling well on their current dose and the drug is expensive, we don't know what they would do.

Illumina and Knome are different from the other three companies, but they were also sent letters. Can you explain to me the thinking behind the letters to each of them?
Well, some of the other companies are buying the chip that Illumina is making. That chip is sold as for "research use only." As such, Illumina has a responsibility. If the chip is being used for diagnostic tests instead, Illumina has to follow the law, and they are aware that the chips are not being used for research only.

Would Illumina still have to obtain pre-market clearance if it sold that chip to medical laboratories and doctors only?
Yes, if Illumina is selling their chips to clinical labs that are using those chips to provide results back to either physicians or patients, and if they know that is how the chips are being used. However, they could [sell the chips without pre-market clearance] to academic labs or clinical laboratories which are clearly in the research space—meaning they're beginning to develop a new test and just looking what they can do with it. That's different than providing clinical results to patients.

What Knome sells is more of a service than a device. It's basically a software program that explains genetic data that consumers can have generated elsewhere. Can you explain to me why it requires pre-market clearance?
Software is a medical device, and they're making medical claims. They're taking results and making medical claims that come out of those results.

Is there a reason Pathway Genomics was not included in this round of letters?
As you're aware, we sent Pathway a letter not too long ago. They have responded, and in that response they are noting that they are planning to move away from direct-to-consumer testing at this point. I believe they're planning to change their business model.

What about other companies that sell their tests to doctors, rather than directly to consumers, such as Counsyl?
Counsyl actually used to be a direct-to-consumer company until we sent Pathway the "it has come to our attention" letter. Then they changed their business model. They're going through clinics or doctors. In that case, it will depend on whether they fit under the model of a laboratory-developed test. If they don't, they will have to come in and get their test cleared.

Is there any reason to think this action by the FDA will preempt congressional hearings?
Well, I can't predict whether Congress will have hearings and whether it will make any difference.