The FDA and Genetic Tests: A Modest Proposal to Require Prescriptions

Next week, on July 19 and 20, 2010, the FDA will hold a public meeting to consider what to do about laboratory developed tests (LDTs), particularly those that look for genetic information. I believe that, for now, the FDA should classify health-related genetic tests as “restricted devices” and allow their use only with a physician’s prescription.

It worries me that genetic tests are currently almost universally sold without having been proven either safe or effective, but what to do about this is complicated. Many medically well accepted tests involving diseases too rare to support substantial clinical trials, sometimes scientifically and usually economically. On the other hand, some tests are sold with absolutely no scientific support.

The FDA could easily take a simple and somewhat useful step by requiring a doctor’s prescription for any genetic test. The Federal Food, Drug, and Cosmetics Act give the FDA jurisdiction over devices that are “intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease, in human or other animals.” The FDA has the power to classify a covered device as “restricted.” The FDA website explains

    “Under the provision of Section 520(e) of the [1976 Medical Device] Amendments, the FDA is authorized to restrict the sale, distribution, or use of a device if there cannot otherwise be reasonable assurance of its safety and effectiveness. A restricted device can only be sold on oral or written authorization by a licensed practitioner or under conditions specified by regulation. Devices such as cardiac pacemakers and heart valves, for example, require a practitioner’s authorization.”

http://www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/Overview/GeneralandSpecialControls/ucm055910.htm

The hundreds, or thousands, of well-established tests for genetic diseases would continue to be used as they are today – after a request from a physician. Less established tests could still be purchased, but only if a physician, in a legitimate doctor-patient relationship, ordered it. The existence of such a doctor-patient relationship brings with it the possibility of malpractice liability, which should deter some reckless prescribing and should lead physicians, in appropriate cases, to provide the necessary counseling about the test results.

The main effect of this proposal would be to eliminate direct-to-consumer sales of genetic tests with health consequences. Consumer genomics companies, whether specializing in one particular condition and test or offering a broad range of information based on SNP chips, could only fill requests that came with a doctor’s prescription. (This is similar to the New York State statute on clinical tests, which has blocked most consumer genomics companies from operating in that state.) The firms could still market genetic tests without a prescription for non-health-related uses – genealogy, paternity, earwax type – but not for cancer risk, Alzheimer’s disease risk, or other medical uses. The prescription requirement would make genetic tests for health information more expensive. To the several hundred dollars now charged for a DTC test, the consumer (now patient) would have to add the cost of a doctor visit or two.

This is not a perfect solution. A doctor’s prescription, even if provided in the course of a legitimate doctor-patient relationship, does not guarantee that the doctor has the knowledge, ability, or time to help the patient make a good decision, about whether to be tested and about the meaning of any test results. But the chances that the patient will get that information from a physician are much greater than the chances of being well informed only through the Internet. (And a prescription requirement certainly does not rule out the possibility of additional information being provided to doctor and patient by the testing companies, through the Internet or otherwise.)

There will be other details to be worked out. It may be that professionals other than physicians should be allowed to prescribe a genetic test – clinical geneticists or perhaps genetic counselors. And there will be some legal complications. What tests are “health-related?” When is a test “intended for use” for health purposes? But the FDA already has experience with these kinds of boundary problems. More puzzling is the possibility of a firm providing simply the SNP chip (or, eventually, whole genome sequencing) results, without any interpretative information other than a reference to OMIM or other on-line resources. Would that be “intended for use” for the covered purposes?

But this also need not be a final solution. Those questions can be answered later. For the time being, this proposal would give at least some increased protection against the users of genetic tests making poorly informed and possibly damaging decisions based on those tests.

The Genome Libertarians, who vow that the government will have to pry their genetic information from their cold, dead hands, will be outraged. The 0.1 percent (or less) of the population that can be expected to understand and deal well with their genetic information without professional intermediation may have a legitimate grievance. (The other 0.9 percent of the population that believes, falsely, that they can understand their own genetic information will have a less legitimate grievance.) But the 99 percent of the population that is not made up of genetic Masters of the Universe will be better off – which seems to me a good regulatory result.