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NIH Launches Beta Version of Genetic Test Registry

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The National Institutes of Health this week launched a beta version of the Genetic Testing Registry — a voluntary repository of information about genetic tests that has been under development since mid-2010.

The GTR, managed by the National Center for Biotechnology information, is built upon data pulled from GeneTests, an NIH-funded genetic testing database that will be phased out over the coming year.

NIH said that GTR "is designed to contain more detailed information than its predecessor, as well as to encompass a much broader range of testing approaches, such as complex tests for genetic variations associated with common diseases and with differing responses to drugs."

NIH estimates that genetic tests currently exist for about 2,500 diseases.

GTR allows users to search by test name, genes, labs, and conditions/phenotypes. Submitters are asked to provide information such as the purpose of each genetic test and its limitations; the name and location of the test provider; whether it is a clinical or research test; what methods are used; and what is measured.

Submitters can also provide information on the analytic validity, clinical validity, and clinical utility of their tests.

The resource will not contain confidential information about people who receive genetic tests or individual test results, NIH said.

NIH notes on the GTR site that it does not independently verify information submitted to the resource but rather "relies on submitters to provide information that is accurate and not misleading."

Furthermore, NIH said it "makes no endorsements of tests or laboratories listed in the GTR," and notes that patients and consumers with specific questions about a genetic test "should contact a healthcare provider or a genetics professional."

Some lab groups have criticized the resource, arguing that it requires too much time to list information about genetic tests in the registry.

NIH estimated last year that it would take each respondent 36.6 hours per year to populate 31 "minimal fields" for an average of 12 tests. The annual cost to labs and test makers submitting information for a dozen tests per year would be $139.38 to fill in just the minimal information, $696.92 to fill in the optional fields, and $836.30 for filling in all the data points, according to NIH (PGx Reporter 11/30/11).

However, the American Clinical Laboratory Association and other lab groups argued late last year that these estimates were overly optimistic. Using the example of a cystic fibrosis test, ACLA noted in public comments filed with the NIH that there can be different claims processing codes for different test indications. As such, a lab may need to submit separate entries based on the mutations, deletions, and duplications assessed by the cystic fibrosis test and whether it was used for fetal testing or sequencing analysis of a familial mutation.

If the GTR requires each of these tests to be separate entries, then "this is more likely an estimate of 12 hours for this one submission," ACLA said in its public comments.

Furthermore, "the cost estimate based on a laboratory technician salary is also underestimated for many ACLA member laboratories," the association wrote. "Many of the data submission fields require the submission of complex data that will require the expertise of a genetic counselor or a laboratory director rather than a laboratory technician."

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