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Genetic Testing Registry Launched by NIH

DNA Test SequenceA new online tool called the Genetic Testing Registry (GTR) was launched today by the National Institutes of Health (NIH). The free resource contains data submitted by genetic test providers including the purpose of each genetic test and its limitations; what is measured by the test and by which method; whether it is a clinical or research test; and the name and location of the test provider.

GTR will contain no confidential information about people who receive genetic tests or individual test results. The goal of the GTR is to make it easier for healthcare providers, researchers and the public to navigate the rapidly changing landscape of genetic tests.

Genetic tests currently exist for about 2,500 diseases, and the field continues to grow at an astonishing rate. In addition to basic facts, GTR will offer detailed information on analytic validity, which assesses how accurately and reliably the test measures the genetic target; clinical validity, which assesses how consistently and accurately the test detects or predicts the outcome of interest; and information relating to the test’s clinical utility, or how likely the test is to improve patient outcomes.

“Our new registry features a versatile search interface that allows users to search by tests, conditions, genes, genetic mutations and laboratories,” said Wendy Rubinstein, M.D., Ph.D., director of GTR. “What’s more, we designed this tool to serve as a portal to other medical genetics information, with context-specific links to practice guidelines and a variety of genetic, scientific and literature resources available through the National Library of Medicine at NIH.”

GTR is built upon data pulled from the laboratory directory of GeneTests, a pioneering NIH-funded resource that will be phased out over the coming year. GTR is designed to contain more detailed information than its predecessor, as well as to encompass a much broader range of testing approaches, such as complex tests for genetic variations associated with common diseases and with differing responses to drugs.

The GTR database was developed by the National Center for Biotechnology Information (NCBI).

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