The National Institutes of Health will start hosting a registry of genetic tests available for clinical use - which should facilitate use of the tests by stakeholders ranging from drug developers to patients - but it will be a voluntary program rather than the mandatory system for which some have called.

The registry will include information on the availability, validity and usefulness of the tests and should be up and running in 2011, the agency announced March 18.

Current estimates are that more than 1,600 genetic tests are available to patients and other consumers, but there is no single resource that provides information about them. The Genetic Alliance, which has advocated for a mandatory database, nonetheless called the voluntary Genetic Testing Registry "a wonderful step forward."

The GTR will give the public a chance to examine the relative merits of the tests based on self-reported data. Submitters will be asked to provide explicit molecular information about the tests they perform and to cite published support for their assertions, and they will be solely responsible for the content and quality of the data they provide. The operation of the database will be overseen by an NIH steering group and scientific group.

The project's working definition of a genetic test is "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." The definition is expected to evolve, NIH said.

NIH's National Center for Biotechnology Information will host GTR, to be developed with input from test developers, test kit manufacturers, health care providers, patients, researchers and other stakeholders.

NIH is collaborating with FDA and the Centers for Medicare & Medicaid Services, which enforces laboratory oversight regulations based on the 1988 Clinical Laboratory Improvement Amendments, to streamline the process of data submission for test providers, who may be required to provide similar information to other HHS agencies.

Genetic tests currently are subject to a crazy quilt of FDA regulation, CMS oversight under CLIA, state laws and standards established by professional societies, a situation that has led to calls for transparency and regulatory enforcement from the advocacy community, federal advisory panels and members of Congress (Also see "Kennedy And Obama Bills Target Home Brews, Genetic Tests" - Pink Sheet, 10 April, 2007.).

In April 2008, the HHS Secretary's Advisory Committee on Genetics, Health and Society released a report on the oversight of genetic testing, recommending that a registry be established, but that registration be mandatory in order to gather information on all tests, including the so-called home brews that have proliferated as genomic research has revealed targets. The public/private advisory panel issued draft recommendations in November 2007 that reflected on the overhanging issues (Also see "Public, Private Players Should Share Genetic Test Oversight – HHS Advisers" - Pink Sheet, 4 December, 2007.).

-Shirley Haley (s.haley@elsevier.com)

NIH Genetic Testing Registry Aims To Shed Light Where Oversight Has Been Patchy

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