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NIH Sees Genetic Test Site Live by Year's End

NEW YORK (GenomeWeb News) – The National Institutes of Health is nearing completion on its Genetic Testing Registry (GTR), a portal that will be a reference for healthcare providers and, eventually, consumers, about the genetic tests available on the marketplace. NIH is currently accepting public comments on the registry regarding how the genetic test data should be organized and enhanced and how it will be used.

The National Center for Biotechnology Information (NCBI), which is developing and will house the online database, should have it completed and running by the end of 2011, according to Kathy Hudson, NIH's deputy director for science, outreach. NCBI currently is completing work on the components of the portal and how the genetic test data will be displayed, and likely will incorporate information provided by the public into its final development, Hudson told GenomeWeb Daily News in a recent e-mail.

The GTR was proposed in 2010 based on recommendations from the now-defunct Secretary's Advisory Committee on Genetics, Health, and Society that a registry was needed to provide healthcare workers and the public information about genetic tests that are marketed directly to the medical community and consumers and are not regulated by the US Food and Drug Administration.

"The registry should offer a one-stop shop for healthcare providers interested genetic tests," said Greg Feero, senior advisor to National Human Genome Research Institute director for genomic medicine, in a recent statement. "GTR will enhance the ability of all healthcare providers to take appropriate advantage of the burgeoning number of genetic tests available for common and rare diseases, as well as pharmacogenomics."

A voluntary registry, the GTR could hold data on as many as 9,360 tests from up to 770 different labs, NIH estimated based on an analysis of the Gene Tests Laboratory Directory.

In the ongoing public comment period, which lasts until late September, NIH specifically is seeking comments on four areas: whether collecting genetic testing is necessary and will add value; how the quality and usefulness of the data can be enhanced; how to make the technology easy to use for online submissions; and how much time and resources participants would need to spend submitting the tests.

Currently, NIH estimates that it should take submitters an average of 30 minutes per test to provide the minimum information for the registry, which includes responding to 31 questions, and around 2.5 hours to answer more optional questions.

The GTR submitters will include national and international clinical labs, test makers, researchers, and entities that report and interpret tests that are performed elsewhere.

Hudson told GWDN that information from public meetings held in 2010 has already been used to refine the registry, and an emphasis has been placed on enhancing its usability.

"For example, some data elements, such as patent information and test turnaround time, will not be captured in the registry, at least in its initial version," she said.

She added that many data fields will use pull-down menus, and a number of fields will be automatically populated.

"For instance, once a submitter fills out the condition for which a test is used, several related fields (e.g., disease identifiers, synonyms, acronyms and disease types,) will be populated by the system," she said.

Hudson said that initially healthcare providers will be the GTR's primary audience, but in subsequent phases NIH will assess how or whether the registry could be used to meet the needs of patients and the general public. She also suggested that the GTR could serve as a source of information about the availability of a particular test, or its purpose and limitations, for well-informed members of the public and for researchers.

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