That NIH Genetic Testing Registry…It’s in Beta

Yesterday the National Institutes of Health (NIH) opened a Genetic Testing Registry online.  As Nature News notes, this effort has been underway for a while, and it is intended to be an information clearinghouse for genetic tests.  Such tests are becoming cheaper and more readily available.  However, the results of genetic tests are not necessarily as clear cut as with more conventional tests, so many consumers could benefit from additional guidance.  Additionally, the commercially available tests are not regulated.

With the Food and Drug Administration and the Presidential Commission for the Study of Bioethical Issues looking hard at direct to consumer genetic tests, regulations may soon come.  But until then we have the database from which to check the veracity of the claims made on those tests.

Unfortunately, the database isn’t that good.  Take a look at the website.  Near the top is this text (boldface and italics are from the website):

“IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.”

The NIH will not independently verify the information.  While I doubt they will simply repeat manufacturers press materials, this doesn’t instill much trust in the registry.

A little further down the page is the following:

“Welcome to the Beta version of the Genetic Testing Registry. This resource is still under construction, but is available for test use. We welcome your feedback using the Contact GTR form.

“The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers.”

That the database is in Beta is not so bad.  It would be helpful to figure out possible bugs in the system through consumer testing.  The problem is in the voluntary submission.  Combine this with the lack of independent verification and it would be easy for a manufacturer to game the system.  More oversight please.