Tuesday, November 13, 2012

Tracking Genetic Tests

NIH has developed a new online tool called the Genetic Testing Registry (GTR) to make it easier to navigate the rapidly changing landscape of genetic tests. The GTR database was developed by the National Library of Medicine’s National Center for Biotechnology Information (NCBI).

According to NIH Director Francis S. Collins, M.D., PhD, “The registry will help not only healthcare professionals looking for answers to their patients’ diseases but also researchers seeking to identify gaps in scientific knowledge.”

Genetic tests currently exist for about 2.500 diseases and the field continues to grow at an astonishing rate. To keep pace, GTR will be updated frequently, using data voluntarily submitted by genetic test providers. This information will include the purpose of each test, limitations, the name and location of the test provider, whether it is a clinical or research test, what methods were used, and what is being measured.

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, assesses how consistently and accurately the test detects or predicts the outcome of interest, information related to the test’s clinical utility, and how likely the test is to improve patient outcomes.

“Our new registry features a versatile search interface that allows users to search by test, conditions, genes, genetic mutations, and laboratories,” said Wendy Rubinstein, M.D. PhD, and Director of GGTR. “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 to provide a variety of genetic, scientific and literature resources available through NLM.

GTR is available at www.ncbi.nlm.nih.gov/gtr.