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GPPC's Plan for Mandatory Genetic Test Registry Includes All Health-related Diagnostics

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By Turna Ray

The Genetics and Public Policy Center at John's Hopkins University has put forth a plan for developing a mandatory, online registry for genetic tests that would list all health-related genetic tests and their providers, including laboratories, in vitro diagnostics developers, and direct-to-consumer personal genomics firms.

The GPPC's blueprint for a mandatory genetic testing registry, outlined in a paper published June 29 in Public Health Genomics, comes more than a year after the HHS Secretary's Advisory Committee on Genetics, Health, and Society issued a similar recommendation in its report on genetic testing regulation [see PGx Reporter 02-20-2008].

In the paper published in PHG and written by GPPC's Gail Javitt, Sara Katsanis, Joan Scott, and Kathy Hudson, the authors note the need for such a registry has been exacerbated by the widespread availability of genetic tests and by increased marketing of these products directly to consumers by personal genomics firms.

While the development of a government-run genetic test registry "has received wide stakeholder support," there are still "many practical questions unanswered," the GPPC states in the paper. "Establishing a registry is a critical first step in the development of a more transparent, quality-centered system of oversight that will better inform and protect the public."

GPPC's plan would house the registry either at the National Institutes of Health or at the US Food and Drug Administration. The mandatory registry would include information on the analytical validity, clinical validity, clinical utility, and proficiency testing of laboratory-developed tests, DTC genetic tests, and in vitro diagnostic tests kits. Test providers would also be required to upload sample test reports.

"We are proposing it be a condition of marketing for all those categories [of tests] – whether it is premarket or concurrent [to marketing] we have not specified," Gail Javitt, GPPC's law and policy director, told Pharmacogenomics Reporter this week. "Also, for tests currently on the market there would need to be some time provided for labs to come into compliance."

Wherever the registry is hosted, the FDA would have enforcement oversight over test developers who are non-compliant, the authors stress in the paper, which would certainly open up laboratory test developers and DTC personal genomics firms to greater regulatory scrutiny than at the present.

GPPC's genetic test registry blueprint isn't the only one in circulation right now. At least one other group recently contributed its plans for such a registry.

Earlier this month, at a public meeting held by the US Food and Drug Administration on how to make the agency's decision making more transparent to the public, another non-profit healthcare advocacy organization, Genetic Alliance, pushed for the creation of a genetic testing registry overseen by the FDA.

Kristi Zonno, Genetic Alliance's Director of Genetics and Health Policy, suggested in a prepared statement at the meeting that the FDA should create a public registry that at the very least includes the name of the lab performing a test, the name of the test developer, and information to support the test's usefulness in obtaining results and improving clinical care. Genetic Alliance believes the registry should be hosted by the National Center for Biotechnology Information so that it could be integrated with other genetic resources.

NCBI 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. The development of a genetic testing registry would require the synthesis of already available information in directories such as GeneTests.

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In an interview with Pharmacogenomics Reporter this week, Muin Khoury, director of the Office of Public Health Genomics at the Centers for Disease Control and Research, suggested that a new collaborative project, called GAPPNet, could serve as one of the main components of an online, public database for genetic tests.

The Genomic Applications in Practice and Prevention Network is a collaborative initiative formed earlier this year by the CDC's Office of Public Health Genomics and the National Cancer Institute's Division of Cancer Control and Population Sciences. By convening healthcare experts and leaders from multiple sectors, GAPPNet aims to drive adoption of genomic technologies into healthcare by evaluating research findings and making validated information available to doctors and consumers through a web portal.

Regulatory Misconceptions

GPPC said that it published its recommendations for a genetic testing registry in response to "the recent entry into the marketplace of genetic tests sold directly to consumers without external scrutiny," which has brought "added immediacy to … the current fragmented and anemic oversight system."

Currently the FDA exercises regulatory oversight over diagnostic test kits and high-risk, complex LDTs, called in vitro diagnostic multivariate index assays. CMS ensures the performance of laboratories under the Clinical Laboratory Improvement Amendment, but does not look at the clinical validity or utility of the homebrew tests.

GPPC has long urged the FDA to address the gaps in its oversight concerning LDTs and has petitioned CMS to create a mandatory genetic testing specialty. In the PHG paper, however, the GPPC recognizes that there is agreement among most stakeholders that requiring the FDA to regulate all LDTs is "neither feasible nor desirable."

If the registry is hosted by the FDA, it could create the "unrealistic expectations on the part of the public regarding FDA's role in genetic test oversight," the GPPC warns in the paper.

"The establishment of a test registry [at the agency] could create the misimpression that FDA also oversees the entities submitting the tests as well as the safety and effectiveness of all the tests they perform," the GPPC notes. "Since NIH does not function as a regulatory agency, its management of the database would be less likely to create such false expectations."

However, even with the FDA continuing to exercise "enforcement discretion" over the majority of LDTs, a registry that is mandatory for all genetic testing providers would open up laboratories and DTC personal genomics firms to more regulatory scrutiny from both the FDA and CMS.

"We are not proposing any substantive change to FDA’s enforcement authority. The database might make it easier for FDA to identify labs, however," Javitt acknowledged. "Similarly, we are not proposing changes to CMS oversight. We think this database could assist CMS in its current oversight."

Currently there is limited federal oversight over DTC personal genomics firms, particularly those that outsource their testing to laboratories. CMS has said it is working with DTC genomics firms to identify areas where CLIA might be applied to regulate such services. The FDA has said it is watching the DTC personal genomics space, but has not expressed any intent to regulate the space.

Companies that "either advertise testing services beyond the laboratory's stated indications or provide interpretation that is different from or additional to that which is provided by the laboratory," should be required to register, the authors stress in the paper.

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Least Burdensome Approach

In its proposal, the GPPC stresses that the registry would only be for genetic tests that are health-related as opposed to genetic tests that gauge ancestry or predisposition to non-health related traits.

Furthermore, to ensure that registry requirements do not deter test makers from developing diagnostics for rare disorders, the GPPC suggests certain exemptions.

For example, genetic tests for diseases that are defined by the Working Group of the American College of Medical Genetics to be "ultra-rare," affecting less than 2,000 people in the US, would face lesser registry submission requirements under GPPC's plan.

"We recognize that availability of such tests is important to families whose members suffer from ultra-rare diseases and want to avoid burdening laboratories that offer such tests now," the authors state in the paper. "Therefore, we recommend reduced submission requirements for those offering genetic tests for ultra-rare disorders."

When FDA expressed its intent to regulate IVDMIAs, one of the main criticisms from genetic tests developers was that increased oversight from the FDA would discourage innovation in genetic testing for rare disorders [see PGx Reporter 08-01-2007].

Though a registry on its own would not close that gap, it represents "a critical first step in the development of a more transparent, quality-centered system of oversight that will better inform and protect the public," and would provide an important tool for consumers and health care providers, the authors write.

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