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NIH Requests Public Input on Genetic Testing Registry, Indicates Intent to Include DTC Firms

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By Turna Ray

This article was posted June 1.

In a request for public input on its plans to develop a voluntary registry for genetic tests, the National Institutes of Health has indicated that it anticipates including information on tests marketed directly to consumers.

The NIH announced in March that it was planning to launch by 2011 the Genetic Testing Registry — an online, publicly accessible repository of data on the validity and usefulness of genetic tests (PGx Reporter 03/24/10).

In light of the recent brouhaha about the need to regulate DTC genomic testing firms, such as Pathway Genomics, 23andMe, and Navigenics, industry observers have raised questions as to whether NIH's Genetic Testing Registry will include participation by this fast-growing, but controversial, segment of the personalized medicine industry (PGx Reporter 05/26/10).

"The NIH anticipates that the GTR will contain 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," the funding agency states in the RFI, released on May 28. The comment period is 30 days.

The idea for a test registry was initially put forth two years ago in a report by the HHS Secretary's Advisory Committee on Genetics, Health, & Society. However, the SACGHS urged for a mandatory, not voluntary, genetic test registry in an effort to allow the government to keep an eye on the marketing claims, information gaps, and safety of all laboratory-developed tests (PGx Reporter 02/20/08).

According to the NIH, its aims in developing the registry are consistent with SACGHS' recommendations.

"The NIH expects that the GTR will be most useful to health care providers, patients and consumers, clinical laboratory professionals, policy makers, and researchers if it includes information on the validity and utility of genetic tests," the RFI notes.

In the RFI, NIH presents its 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, other types of proteins, and selected metabolites)." The test, according to NIH's definition, 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."

Since NIH announced plans to develop its voluntary test registry, stakeholders have raised questions about how NIH plans to encourage sponsor participation in this effort.

In developing a voluntary registry, it will be important for NIH to request just the right data elements that will be useful for consumers and healthcare providers, but that sponsors won't deem as encroaching on proprietary or competitive data. In its questions to the public in the RFI, it is clear that the NIH is trying to iron out a format for the registry that will not deter participation by being overly burdensome.

For example, the NIH asks the public first if there are tests that should not be included in the registry. Also, the NIH seeks the public's advice on what to do when sponsors leave data elements blank; what data points will be difficult for sponsors to submit; the risks and benefits of developing a publicly accessible registry; and the advantages and disadvantages of collecting data on the molecular basis of tests.

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