NEW YORK (GenomeWeb News) – Companies offering genetic testing in the US should be made to register their services in a national registry that would include information about how the test performs, according to a new proposal made by the Genetics and Public Policy Center at Johns Hopkins University.
The GPPC laid out a "blueprint" for how such a registry would work, what kind of information it would contain, where it would be housed, what companies it would cover, and how a law requiring genetic testing companies to register would be enforced in a paper in the journal Public Health Genomics.
"The establishment of a test registry is critical for informed decision making by health care providers, payers, and patients in both the United States and other countries, all of whom need ready access to truthful information about genetic tests," the authors explain in the report, called "Developing the Blueprint for a Genetic Testing Registry."
"It 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," they argued.
First, the authors say, such a registry must be mandatory, and failing to register with it would carry penalties for certain genetic testing companies. The rule would cover clinical laboratories and test distributors that advertise services beyond the lab's stated indications or which provide their own interpretations of results.
The registry should be limited to genetic tests that are health related, and those firms that provide tests for ultra-rare disorders may be exempt from some requirements that "could be unduly burdensome," they advise.
It would include all direct-to-consumer genetic tests, according to GPPC, because they have the "potential for adverse patient outcomes, social stigmatization, privacy concerns, and cost implications for the health care system." These tests also should be registered because they may be offered without the involvement of a healthcare provider or a genetic counselor and may be accessed by large numbers of consumers.
The registry would contain information about the test's analytic validity, its clinical validity, and its clinical utility, the authors said.
The report advises that the registry could be housed in the National Institutes of Health or at the Food and Drug Administration. NIH has extensive knowledge developing and implementing registries, and FDA has enforcement capabilities, said the GPPC authors. Either way, the group argued, FDA would be responsible for enforcing the registry.
"The principal goal of a genetic test registry is to provide doctors and patients with information about the analytic and clinical validity of genetic tests so that they can make informed health care decisions," the authors wrote.
The information testing companies will be required to provide initially "should be modest," GPPC said, "in order to minimize the burdens on registrants and to allow time to assess the critical informational components." A review of the registry within two years of implementation would gauge how it is or is not meeting its objectives.
"While a genetic test registry will not address all concerns that have been raised regarding genetic testing oversight, it 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," the authors concluded.