Some Genetic Tests Will Get Quicker FDA Path to Market

By Bronwyn Mixter

Makers of genetic health-risk tests are getting a more flexible, quicker way to get their products on the market.

The Food and Drug Administration Nov. 6 said it is proposing to exempt genetic health risk (GHR) tests from premarket review under certain conditions. Under this proposal, the FDA would conduct a one-time review of manufacturers’ tests to ensure they meet agency requirements, after which they could send new GHR tests to market without further review, FDA Commissioner Scott Gottlieb said in a statement announcing the policy.

Gottlieb said the agency’s goal “is to streamline the regulatory pathway to get innovative medical products to people more efficiently, while providing the FDA assurances that consumers seek.” GHR tests provide information on an individual’s genetic predisposition to certain diseases or conditions. In April, the FDA approved the first direct-to-consumer GHR tests, 23andMe‘s Personal Genome Service Genetic Health-Risk tests for 10 diseases or conditions, including Alzheimer’s, Parkinson’s, and blood clots.

The Advanced Medical Technology Association (AdvaMed) commends the agency’s approach for genetic health-risk tests and encourages a similar approach in other areas of diagnostics, Mark E. Brager, vice president of communications at AdvaMed, told Bloomberg BNA in a Nov. 6 email.

Brager said AdvaMed “has long supported a modernized, risk-based approach to FDA oversight of all diagnostic tests which would foster innovation while ensuring patient access to safe and effective tests.”

FDA’s Flexibility

The FDA is saying “regulation doesn’t have to stand in the way of innovation” and “information doesn’t have to follow one pathway to get a product out there where there’s a benefit and a need,” Randy Prebula, a life sciences attorney with Hogan Lovells US LLP in Washington, D.C., told Bloomberg Law Nov. 6.

The agency wants to make sure that patients have access to the information they want and that patients understand the risks associated with that information, Prebula said.

“Where there’s a real patient need, where there’s a real risk of people not having information that they can act on, the FDA is saying: ‘We’re interested in making sure that information is out there. We’re going to be flexible when we can be, and we’re going to draw the line when there’s a risk to patient health,’” Prebula said.

Bradley Merrill Thompson, a Washington, D.C.-based health-care attorney with Epstein Becker & Green PC, told Bloomberg Law in an email, “Such tests do present special challenges but also significant opportunities. If used appropriately, such tests if widely accessible may cause people to live healthier lives, choosing better diets and getting more exercise if they realize they are at risk.”

“The FDA notes some of the risks that are present if the tests provide inaccurate information. They particularly focus on false negatives, but false positives also carry problems by increasing anxiety,” Thompson, who also is a Bloomberg Law advisory board member, said. “We will really have to wait and see what the real-world experience is with this new program, but frankly I’m tickled that FDA is trying to think so creatively. We really do need fresh thinking, and the agency is clearly willing to consider ideas well outside the traditional box.”

Final Orders

The agency also issued two final orders on genetic tests.

In a de novo classification order, the FDA established special controls for GHR tests, which outline requirements to ensure the accuracy, reliability, and clinical relevance of these tests. De novo is a pathway to get innovative devices on the market that aren’t like existing or predicate devices. Most devices reach the U.S. market by a premarket notification or 510(k) submission, based on their equivalence to a predicate device.

A de novo submission is a premarket request for the FDA to classify a novel device into class I (lowest risk) or class II (moderate risk). Receiving the class I or class II classifications means the devices aren’t subject to premarket approval (PMA), which is for the highest-risk category, class III. A PMA must contain sufficient valid scientific evidence to ensure the device is safe and effective for its intended use.

The agency also issued a second final order exempting a separate type of genetic test, called an autosomal recessive carrier screening gene mutation detection system, from premarket review.

Besides the genetic testing orders, the FDA also issued a final order classifying certain tests to evaluate vitamin D levels in class II and announced its intent to exempt these tests from premarket review.

Notices announcing these actions will be published in the Nov. 7 Federal Register. Comments on the proposal to exempt GHR tests from premarket review are due Jan. 8, 2018 (Docket No. FDA-2017-N-1129).

Alzheimer’s Group Weighs In

More information about one’s genetic risk or nonrisk for Alzheimer’s disease is important, George Vradenburg, co-founder and chairman of UsAgainstAlzheimer’s, told Bloomberg Law Nov. 6. “The more information the better,” he said. UsAgainstAlzheimer’s is a patient-led organization focused on a cure for Alzheimer’s disease.

“Since the genetics of Alzheimer’s are complicated, I think it’s important to couple this with genetic counseling to indicate how much of a greater risk or lesser risk you have as a result of your genetic makeup,” Vradenburg said.

Also, Vradenburg said people who get these tests “need some genetic protection against long-term insurance carriers discriminating based on genetic makeup.”

23andMe declined to comment.

To contact the reporter on this story: Bronwyn Mixter in Washington at

To contact the editor responsible for this story: Brian Broderick at

For More Information

The notice on the GHR test proposal is at, the GHR test final order is at, the final order on genetic carrier screening tests is at, and the final order on the Vitamin D tests is at

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