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NIH Developing Genetic Testing Registry to Go Online in 2011

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By Julia Karow

This article, originally published March 18, has been updated with information from Knome.

The National Institutes of Health said last week that it is developing a public database, called the Genetic Testing Registry, to aggregate information about genetic tests, many of which are based on DNA sequencing.

According to the NIH, more than 1,600 genetic tests are currently available to patients and consumers. No single public resource exists that provides detailed information about them today, a gap that the GTR plans to fill.

Following a development period, the GTR, which will be overseen by the NIH Office of the Director and developed by the National Center for Biotechnology Information, is expected to be available in 2011.

Genetic test providers will be encouraged to voluntarily submit information about the availability, validity, and utility of their tests to the registry, which will serve as an information resource for researchers, healthcare providers, and patients. In addition, the registry will function to facilitate genomic data sharing for research.

Over the course of the coming year, NIH plans to engage with genetic test developers, test kit manufacturers, health care providers, patients, and researchers to establish the best way to collect and display the information, and will consult other federal agencies, including the Food and Drug Administration and the Centers for Medicare and Medicaid Services.

Knome, which provides whole-genome and exome sequencing and analysis services directly to consumers, is currently not involved in the registry, according to a company spokesperson. In its reports, Knome includes associations between genetic variants and a variety of diseases and traits, though its says that it does not provide medical advice, diagnoses, or treatment.

It is unclear whether Illumina, which also offers a personal genome sequencing service to consumers but leaves the interpretation to third-party providers, plans to get involved with the Genetic Testing Registry. The company did not provide comment for this article before deadline.

The exact scope of the new NIH database has yet to be determined, but for now, NIH is using a working definition of a genetic test as “a test that involves an analysis of human chromosomes, deoxyribonucleic acid, ribonucleic acid, genes and/or gene products (e.g., enzymes and other types of proteins), which is predominantly used to detect heritable or somatic mutations, genotypes, or phenotypes related to disease and health.”

Additional information about the GTR is available here.

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