The National Institutes of Health (NIH) has unveiled its Genetic Testing Registry, a database of information on genetic tests that will be voluntarily submitted by test producers.
According to the NIH, there are now genetic tests available for some 2,500 diseases, including those tests that can be directly purchased by consumers. Most tests do not require the approval of the Food and Drug Administration (FDA).
The registry, launched on 29 February, is meant to provide patients and health-care providers with a centralized repository for details on the myriad of disease-specific tests that are now available. The agency, which has been planning the registry for years, said it will be a resource for “all who are struggling to make sense of the complex world of genetic testing”.
Because the registry just launched, its contents are limited to entries that have been carried over from genetest.org, an NIH resource of medical-genetics information for health-care providers and researchers. The NIH is now asking for genetic-testing companies to submit to the registry on a voluntary basis.
The registry can be queried by the name of a genetic test, the name of the test’s provider or, more generally, by a condition (for example, cardiomyopathy or hearing loss) or gene. It also links to National Library of Medicine descriptions and data.
The Council for Responsible Genetics (CRG), a Boston-area consumer-advocacy group, commends the NIH for creating the database, which offers consumers previously inaccessible information. However, the group is concerned by the lack of oversight to ensure that the data are accurate.
The NIH does not keep this point secret. At the bottom of every page of the online registry, the agency notes that “NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading.”
Companies will be asked to submit analytical validation data, but the NIH will not vet entries.
The NIH’s announcement lays bare the lack of federal regulation of this health-related service, says CRG president Jeremy Gruber.
“The fact that there has been an abdication of leadership in overseeing genetic tests puts a level of uncertainty into the discourse that neither benefits the industry, researchers nor consumers,” says Gruber. “I think we all lose when regulatory agencies create uncertainty in the market.”