Coming soon: NIH genetic test registry

Geneticists worry the public will misinterpret results

In an effort to help healthcare providers, researchers, payors, and patients keep track of available genetic tests, the National Institutes of Health plans to roll out an online genetic test registry (GTR) by the end of 2011.

The GTR will differ from existing registries like GeneTests and the Association for Molecular Pathology Test Directory because it will be a centralized resource covering a broad scope of tests. It will include, for example, pharmacogenomic tests not included in the existing registries. Also included will be assays for chromosomal disorders, inherited mutations causing single-gene disorders, and somatic mutations, according to Kathy Hudson, PhD, NIH Deputy Director for Science, Outreach, and Policy.

While patient advocacy groups and the now disbanded Secretary's Advisory Committee on Genetics, Health and Society have called for mandatory submission of information about available tests, Dr. Hudson says the NIH can't require submission because her agency lacks authority to do so.

The NIH is working with the Food and Drug Administration (FDA) and the Centers forMedicare &Medicaid Services (CMS) to streamline data submission for those who may be required to provide similar information to these other agencies. The FDA and CMS both have authority to regulate genetic test companies, but, according to Dr. Hudson, these agencies' role in GTR isn't regulatory.

Guarding Against Misunderstanding

The NIH is taking some steps to prevent the public from misconstruing information included in the registry. These include linking test listings to resources like GeneReviews, an online publication that describes how genetic tests inform care and counseling. Listings will connect to directories for genetics clinics and genetic counselors and include glossary definitions of medical terms, Dr. Hudson says. The site will also include a disclaimer stating that the site should not be used as a substitute for advice from health care professional, she adds.

The GTR will include tests for which there is no clinical validity and utility information because “one of the goals of the GTR is to enhance the transparency of genetic testing,” Dr. Hudson says. Revealing knowledge gaps will help providers understand test limitations and highlight areas needing additional research, she adds.

GTR's developers are now discussing ways to distinguish fields left blank because of an absence of data and those left blank for other reasons. Listings will also link to peer-reviewed papers, thirdparty recommendations and guidelines relevant to the clinical validity or utility of a test.

Geneticists' Concerns

Both American College of Medical Geneticists (ACMG) and the American Society of Human Genetics (ASHG) acknowledge GTR has the potential to be an important resource for many groups, but “the devil is in the details,” says ACMG Executive Director Michael S. Watson, PhD. Dr.Watson says he worries about the weak evidence base for many tests, explaining that while it's not a problem for those who understand genetic tests well, it opens the possibility for misinterpretation by laypeople and some physicians.

The ACMG concern over limitations in genetic test data stemfromthe need for interpretation far more complex than what's needed for the common lab tests familiar to most physicians, Dr. Watson says. That's the case with pharmacogenomic tests, for example. While most lab tests measure levels of substances in the blood, use of pharmacogenomic tests, such as those for CYP2C9 and VKORC1 variants that affect response to warfarin, involve consideration of non-genetic factors and have potential for significant consequences in patient management.

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The online genetic test registry is expected to launch by the end of 2011.

ASHG President Lynn Jorde, PhD, Professor and Chair of Human Genetics at University of Utah, says he's concerned about control of quality of GTR information. That's because some companies are marketing tests with very little sensitivity and specificity, while some newer testing technologies, like comparative genomic hybridization, can give results that even researchers don't understand, he says.

The NIH is consulting an in-house committee of clinical experts and a medical genetics working group of the agency's National Center for Biotechnology Information Board of Scientific Counselors about GTR's design and structure. To help make the GTR more useful, the agency is also getting input from laboratory test developers, manufacturers, health care providers, patient and consumer groups, and researchers.

While Dr. Jorde applauds NIH's plan to link test listings with relevant information outside of the GTR, he questions whether busy clinicians will take the time to read the information. Because he is worried that the NIH's sponsorship could create the impression that the agency endorses tests in the GTR, Dr. Jorde also calls upon the agency to make clear it doesn't endorse any of the assays.