Issues Persist With NIH Genetic Testing Registry

by Meagen Voss on 2 November 2010, 6:31 PM | 0 Comments

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WASHINGTON, D.C.—Dozens of geneticists showed up at a 1-day public meeting today at the convention center here and voiced their concerns about a planned registry of genetic tests run by the National Institutes of Health (NIH). The gathering, a chance to discuss concerns anyone in the community has with the registry, highlighted ongoing worries about how the registry will work and whether it will leave consumers thinking that the tests listed there are all scientifically solid.

The goal of the registry is to offer information on genetic tests for health care providers, researchers, and consumers. But from the time it was first announced back in March, it has been criticized for being voluntary—in other words, for not requiring that companies list their tests, something that NIH does not have the legal power to do. NIH also isn't planning to conduct a scientific review of the tests listed in the database.

Since NIH put the word out about its registry, genetic tests have come under even more scrutiny than before, making the registry both potentially more important—there's nothing else like it out there—but also generating more scrutiny. FDA squashed an attempt by Pathway Genomics to sell genetic tests at the pharmacy chain Walgreens, and a Government Accountability Office (GAO) investigation over the summer found that representatives from genetic testing companies were providing false or questionable information to customers.

At the beginning of today's meeting, James Ostell, chief of the Information Engineering Branch at the NIH's National Center for Biotechnology Information, unveiled a prototype of the database. To address some of the 68 comments NIH received, the example page featured a tab marked "credentials" where companies could list their licenses and certifications. There was also a green marker that would indicate FDA approval.

Still, those attending the meeting were unimpressed. Many, including Sherri Bale, co-president and clinical director of GeneDX, a company that specializes in genetic testing for rare diseases, called for the database to be restricted to only highly validated tests. "Only the highest quality medically relevant genetic tests should be represented in the registry," she said.

What might be the ideal—have some sort of scientific review of the tests listed—just isn't an option for NIH right now, said Director Francis Collins, who spoke early in the day. "To be honest, it will take resources beyond our means and authority […] to validate primary performance data," he said.

But without independent reviews, many at the meeting argued, health care providers or consumers may be given the impression that a test is clinically validated just because it's included in an NIH-sponsored database. Many of the meeting attendees hope that the database will at least feature an optional review process.

"Leaving out a professional evaluation, I think, would be a mistake," says Robert Nussbaum, a medical geneticist at the University of California, San Francisco. "If we are going to do this, let's do this right."

NIH plans to weigh these issues over the next few months. It's hoping to launch the full database in the spring of 2011.

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