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GPPC Official Outlines 'Blueprint' for Implementing National Genetic Test Registry

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TAMPA, Fla. – The Genetics and Public Policy Center at Johns Hopkins University has drafted a "blueprint" for implementing a mandatory web-based registry of genetic tests, which was recommended last year by the HHS Secretary’s Advisory Committee for Genetics, Health, and Society [PGx Reporter 02-20-08].

Joan Scott, deputy director of the GPPC, told attendees of the American College of Medical Genetics' Annual Clinical Genetics Meeting here last week that the center agrees with many of the aspects of the SACGHS recommendations, but noted that the committee's report did not provide much detail regarding how such a registry should be implemented, what it should include, and how it should be administered.

As a result, she said, the GPPC wrote a paper, which has recently been accepted for publication, that proposes a "blueprint" for the registry. The goal of the paper, she told Pharmacogenomics Reporter, was to "get the conversation going" about the best way to implement the resource.

In her ACMG talk, Scott described the proposed registry as similar in many ways to ClinicalTrials.gov, a repository of federally and privately supported clinical trials that is maintained by the National Institutes of Health's National Library of Medicine in collaboration with the Food and Drug Administration. Like that site, she said, the proposed genetic testing registry should be "mandatory, with penalties for non-compliance."

Scott described as a "good start" the University of Washington's GeneTests.org site, which includes information on laboratories offering genetic tests for more than 1,700 diseases. However, that resource is not mandatory and includes all genetic tests.

By comparison, GPPC envisions a national web-based registry that would collate information from resources like GeneTests as well as additional information that other entities such as the Centers for Medicare and Medicaid Services and state health departments are already collecting from labs that offer genetic tests.

The registry would include information about the lab offering the test, the test's indication, its purpose, its clinical utility and validity, and other details, said Scott.

One difference between the GPPC's and the SACGHS recommendations is that the GPPC believes the registry should be limited to genetic tests, rather than all laboratory-developed tests as SACGHS suggested, which Scott said would be too difficult to manage.

However, Scott stressed that all clinical testing labs should be registered, as should "test distributors" that market tests that are performed at third-party labs.

A key component of GPPC's blueprint, Scott said, is the administrative oversight of the registry. The center believes that under the Food, Drug, and Cosmetic Act and the Clinical Laboratory Improvement Amendments, the Secretary of the Department of Health and Human Services has the "legal authority" to oversee the implementation of the registry, and there is "no barrier to the Secretary reapportioning that authority" to an agency with the experience and resources to do so.

Scott told PGx Reporter after her talk that the timeline for implementing a mandatory genetic-test registry will depend on the priorities of the new HHS Secretary — a spot that remains open under the Obama administration. President Obama's current nominee, Kansas Governor Kathleen Sebelius, will begin confirmation hearings next week.