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NIH Seeks Public's Input on Genetic Testing Registry

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This story was originally published June 14.

The National Institutes of Health is seeking input and feedback from the public on its planned Genetic Testing Registry, according to a notice published in the Federal Register last week.

The NIH first announced its plans for creating the GTR, which is expected to go online next year, in March (IS 3/23/2010). The plan is to devise a centralized public database with information about the availability, scientific basis, and usefulness of genetic tests, which test providers will submit voluntarily.

The GTR is likely to include whole-genome or targeted genome sequencing services directed at individuals, such as Knome's KnomeComplete and KnomeSelect offerings and Illumina's Individual Genome Sequencing service. These would fall under the NIH's working definition of a genetic test, for the purpose of the registry, as "a test that involves an analysis of human chromosomes, deoxyribonucleic acid, ribonucleic acid, genes and/or gene products … which is predominantly used to detect heritable or somatic mutations, genotypes, or chromosomal variations in structure or number related to disease, health, and/or personalized medicine."

The GTR will serve "as a resource for health care providers and patients interested in learning about the tests and easily locating laboratories offering particular genetic tests," according to the notice.

It will include information on "a wide range of genetic tests for inherited and somatic genetic variations, including tests ordered through health care providers, and those available directly to consumers."

NIH said the GTR will be "most useful" if it includes information on the analytical and clinical validity as well as on the clinical and personal utility of a particular genetic test, in line with recommendations by the HHS Secretary's Advisory Committee on Genetics, Health, and Society. It should include information about the molecular basis of the test, its method, and supporting evidence for validity and utility.

Stakeholders in the GTR are encouraged to comment by July 12 on what types of tests and testing information the registry should include. NIH said it is "particularly interested in receiving comments on the type of data elements that should be included in the GTR and the level of information that would adequately address these data elements."

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