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In Federal Register Notice, FDA Outlines Special Controls for 510(k) Exempt Carrier Tests

NEW YORK (GenomeWeb) – The US Food and Drug Administration this week published a Federal Register notice detailing the special requirements labs will need to meet in commercializing carrier screening tests that are exempt from 510(k) clearance.

FDA made this determination after reviewing 23andMe's de novo 510(k) submission for its Bloom syndrome carrier screening test. In clearing that test earlier this year, FDA also decided that carrier screening tests were Class II devices, would not require premarket review, and could be offered directly to consumers.

After receiving an FDA warning letter in 2013, 23andMe had to stop marketing health-related test reports directly to consumers. Following FDA clearance in February, the company launched a revamped website last week, offering more than 60 genetic test reports on carrier status, ancestry, wellness, and personal traits for $199.

"FDA's intent to exempt these devices from FDA premarket review supports the development of innovative tests that may provide consumers with direct access to genetic information that can inform health-related decisions," Eric Pahon, FDA press officer, told GenomeWeb.

In the Federal Register notice, the agency explained how labs might go about legally commercializing carrier screening tests that are 510(k) exempt. While such tests don't require premarket notification, they still have to meet special controls or requirements.

Under special controls laid out by the FDA, labs will have to post on their website clinical validity data on the tested markers from peer-reviewed publications and professional society guidelines. If the test gauges markers that are not backed up by guidelines, then the lab must state this on the website.

Additionally, labs must post on the website detailed information on the analytical performance of carrier tests. "A very high level of accuracy is prescribed in the special controls," the agency said in the Federal Register notice.

FDA also tells labs to use sample collection devices that are indicated for use in DNA testing and are FDA cleared, approved, or 510(k) exempt. Furthermore, except for the sample collection device, FDA restricts labs from distributing these carrier tests to other CLIA labs.

The agency decided to exempt carrier tests from premarket notification after determining there was a low risk for false-positive results. Carrier testing reveals whether a person has one normal and one abnormal copy of a gene allele associated with a disorder, such as sickle cell disease. The carrier of one abnormal copy doesn't have any disease symptoms, but his or her children might if they inherit two abnormal alleles from both parents.

"The probability of a couple both receiving false positive carrier results using a device of this type is vastly smaller than for a single false positive," the FDA said. However, the agency acknowledged that there may be a higher risk for false negative results since "not all clinically relevant mutations are known or tested for."

As a way to lessen the risk from false results, FDA will require labs to tell customers how to obtain genetic counseling, include warnings about test limitations, and conduct studies to ensure that consumers understand the type of information the test can and cannot provide.

The notice includes a table of premarket notification-exempt carrier screening tests, but specifically notes that tests for cystic fibrosis mutations are not exempt. Although still a type of carrier screening, the FDA said it considers CF tests Class II devices subject to premarket notification and special controls. Additionally, if carrier tests have different intended uses or technologies than legally marketed tests, they will have to get 510(k) clearance.

This exemption for certain carrier screening tests comes as the agency last year released draft guidance outlining a risk-based framework for regulating lab-developed tests (LDTs). The plan has been criticized by pathologists and labs as being overly burdensome on industry. Some experts have viewed this action with regard to carrier tests as a show of FDA's willingness to be flexible as it moves to bring LDTs under its oversight.  

Members of the public have 30 days to comment on FDA's announcement after Oct. 27.

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