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NIH Requests Feedback on Time, Cost of Voluntarily Submitting Data to Genetic Testing Registry

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Originally published July 29.

The National Institutes of Health is requesting comments from test developers on the strengths and weaknesses of a proposed structure for a genetic testing registry it is developing.

Specifically, NIH is asking diagnostic developers and "affected agencies" to assess whether the proposal to collect information on genetic tests is necessary and will add value; if the agency has accurately estimated the resources and time sponsors will need in order to submit information to the registry; how the quality, usefulness, and clarity of the data being requested can be enhanced; and how the burden on data submitters can be reduced via the use of automated techniques.

The request for information was published in the Federal Register on July 27. Comments should be submitted within 60 days from the publication date of the notice, the announcement states.

NIH announced it would develop a voluntary genetic testing registry last year recognizing that while there are laboratory developed tests for thousands of genetic conditions, there is no centralized database that healthcare providers, members of the public, and researchers can access to learn about these products. The registry currently under development is slated for launch next year. It will be housed at the National Library of Medicine, and will be implemented by the National Center for Biotechnology Information (PGx Reporter 06/02/2010).

In the Federal Register notice, NIH said that the function of the registry will be to urge more transparency about genetic tests within industry; to create an open resource for the public to learn about marketed tests; and facilitate data sharing to spur genetics research.

Submitting data about genetic tests to the NIH registry will be voluntary, but sponsors who do participate will be requested to update the data on specific tests at least once every 12 months. The information will be collected and managed through online submissions.

In the Federal Register notice NIH estimated the number of laboratories that might voluntarily submit information and the number of genetic tests that might be listed in the resource. Noting that there are 7,800 genetic tests and 593 participating labs included in GeneTests ─ the genetic testing database currently run by NCBI ─ NIH estimated that around 770 labs could submit data for as many as 9,360 tests to the new registry. The agency arrived at these numbers by multiplying the number of labs and tests in GeneTests by a factor of 1.2.

Sponsors who wish to submit data about genetic tests must fill in 31 "minimal fields" for there to be an actual listing about the test. Additionally there are 85 optional fields. The NIH estimates it will take each submitter 30 minutes to input data in the minimal fields for one test, and 2.5 hours to fill in the optional sections.

Given that the NIH estimates on average a sponsor will submit information for about 12.2 tests, the overall hourly burden per respondent will be 36.6 hours annually if all fields are completed. As submitters get more comfortable with the submissions, the time burden may be reduced, according to the agency.

"Submitters should become more efficient in data entry as they gain experience with GTR, and significant time savings can be achieved by laboratories with large numbers of tests who use the bulk upload feature," NIH wrote in the notice. "In addition, those test providers whose tests are already in GeneTests will have the data from GeneTests automatically transferred to GTR, saving them data entry time."

Finally, NIH estimates that the annual cost of submitting information for around 12.2 tests will 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. The annual cost for all 770 labs to submit all the requested information on 9,360 tests comes to more than $600,000.

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