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NIH's Genetic Testing Registry to Launch in 2011, But Will Dx Firms, Labs Voluntarily Participate?


Originally published on March 18.

By Turna Ray

After much urging from personalized medicine stakeholders for the federal government to create a registry of clinical and analytical specifications for marketed genetic tests, the National Institutes of Health announced this week that it would develop such a database.

However, despite recommendations from several patient and policy groups that participation in the registry be mandatory for test developers, NIH has opted to make participation voluntary.

The Genetic Testing Registry will be managed by the NIH, and genetic testing providers who wish to make information about the validity and usefulness of their tests publicly available can have their test listed in the database. The registry is slated for launch in 2011.

The NIH is hoping that GTR will serve as a resource for the public to learn about tests and locate laboratories that offer such tests, as well as facilitate data sharing among researchers.

"Currently, more than 1,600 genetic tests are available to patients and consumers, but there is no single public resource that provides detailed information about them. GTR is intended to fill that gap," NIH said in a statement.

The government has given the National Center for Biotechnology Information the job of creating the registry. NCBI, part of the National Library of Medicine at NIH, has the experience to develop and host a genetic testing registry, since it already hosts GeneTests, a voluntary directory that provides information on tests offered by laboratories and clinics. GTR will incorporate currently available information in directories such as GeneTests, as well as new data that is expected to be provided by genetic testing providers.

"GTR genetic test data will be integrated with information in other NIH/NCBI genetic, scientific, and medical databases to facilitate the research process. This integration will allow scientists to make, more easily and effectively, the kinds of connections that ultimately lead to discoveries and scientific advances," according to the NIH.

Additionally, during the development process, NIH has said it will seek input from genetic test developers, test kit manufacturers, healthcare providers, patients, and researchers on the best way to collect and display information about genetic tests.

"Other federal agencies, including the [Food and Drug Administration] and [Centers for Medicare and Medicaid Services], will be consulted," NIH said. It is currently not clear whether FDA will have a role in the registry beyond an advisory capacity, or whether the agency plans to use data reported in the registry for regulatory decision making.

Pushing for a Mandatory Registry

In 2008, the idea of a government-sponsored mandatory genetic test registry was introduced in a report by the HHS Secretary's Advisory Committee for Genetics, Health, and Society. In the report, the SACGHS said that the development of a “mandatory, publicly available, web-based registry that is well-staffed to maintain an accurate and current database would offer the best approach to address the information gaps” regarding laboratory-developed genetic tests. The SACGHS urged divisions under HHS to collaborate on developing this registry but did not recommend a specific agency to head up the effort [see PGx Reporter 02-20-2008].

SACGHS' recommendation for the development of such a registry was one proposal in a broader plan to improve regulatory oversight of laboratory-developed tests. Labs are currently evaluated by CMS, with the FDA overseeing test kits and high-risk LDTs, such as in vitro diagnostic multivariate index assays.

A year after the SACGHS' report, the Genetics and Public Policy Center at Johns Hopkins University presented a plan for developing a mandatory, online registry for genetic tests that would list not just LDTs, but all health-related genetic tests and their providers, in vitro diagnostics developers, and direct-to-consumer personal genomics firms [see PGx Reporter 07-08-2009].

Non-profit healthcare advocacy organization Genetic Alliance has also urged for the development of a testing registry overseen by the FDA, and hosted by NCBI so that test information can be integrated with other genetic resources.

"We are glad NIH plans to learn from the experiences and expertise of the individuals and institutions that will be using and registering information," Genetic Alliance said in a statement this week following NIH's announcement about GTR. "We also look forward to the registry becoming mandatory so that we are all apprised of the quality and availability of genetic testing across the nation."

Genetic Alliance President Sharon Terry told Pharmacogenomics Reporter this week that the group has been urging NIH and the FDA to make the registry mandatory. However, the group has not received any indication from federal agencies that test providers would eventually be required to participate in the registry.

In Genetic Alliance's view, a mandatory registry would facilitate an oversight system that is open, transparent, and coordinated with other agencies and stakeholder groups. Making the registry mandatory would require a mandate from the FDA, Terry said. "I think the registry is voluntary because there is a feeling that making it mandatory would put undue burden on labs" in terms of regulatory oversight.

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It is Genetic Alliance's hope that as test makers get used to the idea of the registry and there is more clarity on how information in the registry will be used, they will be more comfortable with the idea of a mandatory system.

Encouraging Volunteers

NIH said it also plans to "encourage providers of genetic tests to enhance transparency by publicly sharing information about the availability and utility of their tests." However, since participation in GTR is voluntary, it is unclear what carrots the NIH will provide test makers to encourage participation in the registry.

Since originally the idea for this type of registry was introduced in the context of improving regulatory oversight of genetic tests, industry has previously expressed worry that participating in such a registry might invite regulatory action from the FDA.

Although NIH hasn't issued any specific policies regarding the scope of the registry and the data points that will be made publicly available, housing the registry at a research organization, such as NIH, may quell industry fears of potential regulatory pushback from participating in the registry.

In announcing the plan to create GTR, NIH Director Francis Collins said that NIH's "combined expertise in biomedical research and managing such large databases makes NIH the ideal home for the registry."

Genetic Alliance's Terry agreed that NIH is the right entity to lead the registry effort. Through leading the Human Genome Project, the NIH has garnered a moral authority when it comes to matters of genomics and genetics, Terry said.

In her view the large laboratory test providers will be the first to volunteer to have their tests listed in the registry. Terry suggested that once these first adopters see that having their test listed has a positive impact on their business by giving other vendors access to their products, then other test makers will follow.