Why the FDA thinks you need to see a doctor to have your DNA tested

Will it be illegal for genetic tests to be sold directly to consumers?
Written by Boonsri Dickinson, Contributing Editor

This week, the Food and Drug Administration made it clear the agency thinks direct-to-consumer tests need to be ordered and reviewed by a physician. The panel discussions caused a little bit of a brouhaha, especially for long-time proponents of genetic testing. The trouble is, once you turn the green light on for regulation, it would be hard to go back directly to the consumer.

The Molecular and Clinical Genetics Advisory Panel's sentiment doesn't come as that much of a surprise, considering the FDA's previous stance on the issue of genetic testing. Previously, the FDA sent out letters to five major DNA testing companies, telling them that their medical devices need to be approved before they are marketed to consumers.

Although, I do have to admit that even though I took three genetic tests from three different companies, it's unclear that had a doctor ordered the test for me that it would have made a difference. I took most of the results with a grain of salt. Had I been looking for my genome for answers, I might think differently about it and it would have impacted me more than it has. But it didn't. I'm not alone. The New England Journal of Medicine published a study that said direct-to-consumer genetic tests didn't make people feel anxious. And, the study found that only 10 percent of consumers took advantage of the free genetic counseling sessions.

As I mentioned before, when Pathway Genomics announced their plans to sell DNA tests at Walgreens, it certainly struck a nerve with the already-squeamish FDA — as it should. DNA tests aren’t the same as selling a pregnancy test over-the-counter. There is no simple “yes” or “no” answer that you will receive, and the meaning of results are often much more complicated than that.

The FDA's watch over the direct-to-consumer genetic testing field will likely continue, as testing gets cheaper and reaches more people. SmartPlanet spoke toJoann Boughman, an expert who spoke at the FDA panel this week. Boughman is an executive vice president of the American Society of Human Genetics (but says her responses are hers and do not represent the views of the society).

SmartPlanet: So you were at the FDA hearing. What was it like?

JB: I think that the FDA has clearly made its decision that they will use their authority to regulate genetic testing.

They have said that before.

The FDA sent letters to companies (cease and desist or more casual, "talk to us" letters). Now, they've made it clear they are going to use that authority.

The questions they were asking were...

How should we regulate these direct-to-consumer tests?

Should they be allowed to be sold direct-to-consumers?

If so, which ones?

What about analytical and clinical validity?

Should it be the same as tests that are not sold direct-to-consumers?

What should the label be like? What kind of information should be on the package and on the results?

Surprisingly, there seemed to be a consensus around the fact that any genetic test that is a health-related test should be interpreted and the results should be reviewed by a qualified health professional, whether if it's a carrier, predictive or pharmacogenetic tests.

But this [regulation] wouldn't include ancestry tests or traits such as dry ear wax.

HIV tests are sold this way. You can order the tests, but a health professional has to call you back to give you the results.

SmartPlanet: So basically you'd need a doctor somewhere in the process?

JB: The feeling was, the direct-to-consumer tests should be ordered by health care professionals. The testing should performed by a Clinical Laboratory Improvement Amendment (CLIA) certified lab, and be interpreted by health care professionals if they are a medical test.

SmartPlanet: So what else happened during the panel?

JB: There was a lot of discussion about the interpretation, odds rations, absolute risk, complications depending on population, and single-nucleotide polymorphisms (SNPs) you are using. It's not a straightforward answer. There are several steps. The consumer must understand the difference between high or higher risk. If they don't understand details, the consumers should have a good concept of the population risk. Even doctors not properly trained would understand from patients the different rates of type two diabetes among African Americans, and Europeans and Asians. The doctors would get the concept quickly.

Doctors only spend seven minutes with patients, but the results are a hundred pages worth of test results.

SmartPlanet: What's going to change?

JB: Direct-to-consumer testing companies will have to look closely at their business models. They are putting out good educational materials. They are being responsible in the amount of information they are giving the patient. Some companies are really bad as well. Some companies that have come and gone. One was testing for responses to different nutrients and they were selling nutritional supplements. Obviously, there's a conflict of interest there. That wasn't a good model. Most of those companies are gone already.

SmartPlanet: Have you gotten your DNA sequenced?

JB: I have ordered the tests, but haven't gotten the kits yet. In Maryland, you can't be tested. I had to have the kit sent to my nephew in Virginia. I haven't seen him to have it delivered.

That issue was also mentioned in the panel, state regulation can vary as well.

It seems like the scenario it sets up as if it's the FDA against the corporate world. That's not really the way it's set up. The FDA is a protector of the consumer. It protects the consumer from bad practices.

SmartPlanet: What's the main concern about selling the tests directly to consumers?

JB: The concern is about [test results that are] false positives and false negatives.

There are some challenges to medical practitioners... physicians can be paternalistic. There are some medical practitioners who are pretty directive. In genetics, we've tried not to be. Given that background, nobody is denying the patients' the right to know. In some sense, some think any FDA oversight would block the patients' right to know or obtain knowledge about themselves. Taken to the extreme, that is true. But that's not the goal of the FDA or the community that is suggesting that the tests be regulated more stringently. It is such complex information. Medical professionals should be involved in the process [of interpreting the results to patients].

SmartPlanet: How do you see genetic testing playing a role in the lives of patients?

JB: It was interesting that we were talking about direct-to-consumer tests, when the lupus drug was approved based on underlying genetic information. You can test for responsiveness to certain drugs. For those drugs that do have pharmacogenetic tests, the results can recommend the dose [and the brand].

For example, before someone is given the Warfarin drug [a blood thinner], the label indicates doctors should test the patient before administering the drug for the recommended dosage [because too much can be lethal and not enough can be ineffective]. But not a lot of doctors use those tests that go along with the drugs.

It’s going to take us a while to get us to the point where pharmacogenetics is in everyone’s practice. It takes time to do the trials, and prove the safety. It’s catching on as we understand the molecular targets.

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