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.
The registry 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. It will serve as a resource for “all who are struggling to make sense of the complex world of genetic testing”.
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) 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.”
Bonnie: Keep in mind that even though genes that appear on this registry may be associated with certain health conditions, it in no way means that you will get those conditions. In fact, there is still so little yet known about how certain genes work in conjunction with one another that there are very few, if any certainties. For example, one gene, BRAC, once thought to be iron clad in its link to breast cancer, has recently come into question. Stay tuned.