Video Tip of the Week: GTR, Genetic Testing Registry

At one point in time, there were a only handful of specific gene tests that could be done to determine if there was some sort of variation carried by an individual. These were important tests–for things like cystic fibrosis, Huntington’s disease, and of course BRCA1. Exome and whole-genome sequencing are going to be replacing some of these tests in some cases. But there is still a need to find specific tests for some situations.

Years ago we worked with the GeneTests resource because it was the most comprehensive of its kind to locate the suitable tests from clinical or research labs. They also provided excellent summary GeneReviews that we appreciated. We updated our training when the relocated to within the NIH framework. But we also knew that change was afoot–last year Jennifer addressed this in her post: Video Tip of the Week: New Genetic Testing Registry (GTR) Resource. The GTR was being developed to cover some of the same needs, and to go further and “bridge that transition from discovery to diagnostics and treatments” as Francis Collins described in a post about GTR. He goes on to say:

GTR is becoming a central repository of all the genetic tests available, and therefore greatly simplifies this search. It’s a vital resource, as providers can’t be expected to know all the diseases and genes or to keep tabs on the growing number of tests.

So we weren’t entirely surprised to see this change in GeneTests recently announced:

Bio-Reference Laboratories today announced a licensing agreement with the University of Washington to move,, and all other related properties to become a business unit of Bio-Reference.

The announcement notes, though, that the GeneTests links to GeneReviews will persist, and GeneReviews will remain part of the NIH framework. GeneReviews can be found in the NIH Bookshelf today, and remains as a searchable feature from the GTR interface by accessing that tab:

GTR search box

There is also a section of the GTR FAQ that addresses the transition:

Q. What has happened to GeneTests and how does that relate to GTR?
A. As of June 4th, 2013, the NIH no longer supports the GeneTests Laboratory Directory, but continues to support GeneReviews. GeneTests webpages that have resided at NCBI either redirect to GTR or to NCBI’s Bookshelf, which continues to house GeneReviews. GeneReviews are integrated into GTR in a variety of ways, as described here.

You can continue to search for specific genetic testing information at the NIH by using the GTR resources now. For this week’s video tip of the week, check out their Homepage and Basic Search Functions video.

You can find more videos on their YouTube page.

We’ll be looking for more details on the new GeneTests location and changes in functions to determine how we’ll be updating our tutorial.

Quick links




Pagon R.A. GeneTests: an online genetic information resource for health care providers., Journal of the Medical Library Association : JMLA, PMID:

Rubinstein W.S., Maglott D.R., Lee J.M., Kattman B.L., Malheiro A.J., Ovetsky M., Hem V., Gorelenkov V., Song G. & Wallin C. & (2012). The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency, Nucleic Acids Research, 41 (D1) D925-D935. DOI: