Originally published Dec. 5.
With the GeneTests database slated to be phased out by the middle of next year, the National Institutes of Health is encouraging labs to register their marketed genetic tests with the new Genetic Testing Registry if they have not yet done so.
After going live with the beta version of the GTR in February this year, the NIH populated the new site with test information from GeneTests in an effort to reduce the burden on labs and allow users to test out the new registry. However, NIH informed labs in a letter this week that although this information has been included in GTR, "this was only a temporary solution to allow display of data from GeneTests through GTR during the transition period." Labs that wish to continue to have their information listed in GTR must "take specific action by registering" the lab and the test with the new registry.
GeneTests, a precursor to the GTR funded by the NIH and developed by the University of Washington, includes a directory of labs offering tests for genetic conditions and a peer-reviewed resource called GeneReviews with descriptions of inherited disorders authored by experts. Unlike GTR, however, GeneTests doesn't provide detailed information about specific tests offered by the labs, such as analytical and clinical validity. Moreover, GeneTests only lists diagnostics for Mendelian disorders, while GTR includes these types of tests as well as pharmacogenetic tests, and aims to eventually list research tests and diagnostics that gauge somatic mutations.
NIH developed the GTR in an effort to provide a single source for healthcare providers to find information on marketed genetic tests. The voluntary repository of genetic tests has been under development since 2010, and is managed by the National Center for Biotechnology Information. While labs can migrate some information from GeneTests to GTR, in order to officially register with the new database they must take the time to input more specific information about their tests, such as analytical validity and the molecular markers gauged.
Wendy Rubinstein, director of GTR, told PGx Reporter that as of Dec. 4, 116 US and foreign labs have registered with the new repository. The site currently lists 739 fully registered tests, including pharmacogenetic and other types of tests that are not in GeneTests. "If you look at labs that offer clinical tests in GeneTests, 20 percent of those labs have registered with GTR," Rubinstein said. "Then, if you look at those [registered] labs and their test packages, many of them are big labs that represent about half of the test content."
In its letter to labs, NIH highlighted that GeneTests will stop registering new labs as of March 1, 2013, and as of June 4, the GeneTests site will not be publicly available. In effect, this means that after the June deadline, GeneReviews and the GeneTests Clinic Directory will still be available, but the GeneTests.org site will redirect to GTR.
Useful Information
In order to voluntarily register their tests with GTR, labs are required to provide some "minimal" information such as data on the analytical validity of the diagnostic. There is also information that NCBI "strongly recommends" labs provide on their tests, such as data on clinical validity and links to clinical utility studies.
Concerned about increasing spending on molecular diagnostics, some payors have been pushing for a centralized resource, such as a registry, that tracks molecular diagnostic usage and contains data on the tests' analytical validity, clinical validity, clinical utility, and cost-effectiveness. Such a resource would help payors get a better idea of what types of tests they're reimbursing, and enable them to set payment levels for diagnostics commensurate with the available evidence (PGx Reporter 11/7/2012).
However, when GTR was being developed, NCBI sought stakeholder input, and many labs balked at providing certain types of data, such as test pricing and clinical utility data (PGx Reporter 10/20/2010).
Although NCBI encourages labs to include citations to clinical utility studies for their tests when such data are available, most labs don't have this type of evidence. Moreover, clinical utility and cost-effectiveness studies often yield conflicting results based on the parameters applied and, as a result, test developers will likely be motivated to only cite positive studies in GTR.
Recognizing this, the developers put in measures by which NCBI officials and GTR users can cite related guidelines or other published literature about a test, even if the lab chooses not to enter this information. "If you look at a typical test page in GTR, the main real estate is on the left center, and most of that is what the submitter says and [that's where they] can make a statement about clinical utility and provide a citation," she said. "But on the right side [of the page] is where we draw in any and all practice guidelines that we can find that have been published." Users can also post "suggested reading" to provide "balancing type" of literature about a test.
NCBI's vision is that ultimately, healthcare experts will be able to look at the information in GTR about a test and the corresponding practice guidelines, develop their own guidelines, and link them to the test record. "The users then can find all of that information, and judge for themselves," Rubinstein noted.
Pricing for genetic tests, meanwhile, "varies so much by context, depending on what insurance plans are available and the hospital system that administers them, it's sort of impractical" to include that data in the GTR, "at least this point in time," Rubinstein said. She added that there might be a stronger case to eventually make the clinical validity data about a test a minimal field for GTR registration.
GTR cannot track test usage. It is mainly intended as a resource that healthcare providers can use to learn more about available genetic tests. However, in an effort to make it easier for healthcare professionals to submit medical claims to payors for molecular diagnostics they've performed, NCBI is also planning to list more than 100 new CPT codes for genetic tests recently issued by the American Medical Association.
"We're working to get the [AMA's] molecular pathology codes listed [in GTR], and we're really in the last stages of the licensing agreement," Rubinstein said. "When labs submit a test to GTR, based on the gene that they're testing, we can suggest to them CPT codes that are available to them, and they would be making the assertion that that code fits with their test, and they'll have to click through a licensing agreement."
Expanding GTR
Since launching GTR earlier this year, NCBI has mainly focused on getting labs and tests on GeneTests migrated to the new registry. Next year, NCBI will focus on expanding the types of tests included in GTR. For example, GTR currently reflects research tests within the GeneTests Laboratory Directory, but the center plans to enable labs to register their research tests with GTR by February 2013.
Eventually, NCBI will begin listing tests that gauge somatic mutations linked to diseases. "Tests like [Genomic Health's] Oncotype DX test are somatic tests. You won't find [these types of tests] in GTR now, but we're planning to bring those in to GTR in late 2013," Rubinstein said. "We're also going to broaden out into other arenas, such as direct-to-consumer testing and even whole-genome tests."
During the transition period, NCBI hasn't conducted significant outreach beyond going to major laboratory, pathology, and genetics meetings to spread the word about GTR's launch. "Beyond that, we haven't gone to all those other labs and said, 'Hey, you're not in GTR, why don't you join," Rubinstein said. "We have our work cut out for us at the moment, but we will go out more to make concerted efforts to find labs that haven't participated."