About the GTREdit


The genetic testing registry (GTR) was started in 2012 by the NCBI under direction from the NIH as a tool to look up information about genetic tests that are available today[1] . Due to the large number of genetic tests available today, there was a desire to compile information in a single source to help make locating information about potential genetic tests easier for both physicians and patients as well as creating more transparency for genetic testing. The genetic testing involved in the registry can include tests on chromosomes, DNA, RNA, or gene products. For genetic tests the GTR provides information such as what a specific test might be used to screen for, the procedure, information about ordering the test and laboratories that offer the test as well as contact information. The GTR also includes information about conditions associated with specific mutations, treatment options, and literature about the gene and at risk populations[2] . All information on the database is voluntarily submitted by patients and clinicians, and is free to access

How to useEdit

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Home page of the GTR

There are a few different approaches that can be used when searching the GTR which involve the use of keysearch terms. When using the search bar, you can decide if you want to look up a specific test, condition or phenotype, a specific gene, or laboratory if known. When using the search bar it will auto fill to help identify other keywords or narrow the search to be more specific[3] . Search results will include the condition or conditions associated with the search words, potential drug treatment, genetic screens, labs that perform the screens.

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2. The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency. Wendy S. Rubinstein et al. Nucleic Acids Research, 2013, Vol. 41, Database issue D925–D935 doi:10.1093/nar/gks1173