The National Institutes of Health (NIH) announced in March that it is creating a public database of genetic tests. Researchers, consumers, healthcare providers, and others will have access to the Genetic Testing Registry (GTR) to search for information submitted voluntarily by genetic test providers.
NIH director Francis Collins’s chief of staff, Kathy Hudson, said the agency will soon publish a notice in the Federal Register posing a series of questions about the project to stakeholders and other interested parties. NIH hopes to elicit plenty of feedback and input from those who have an interest in the database. “We anticipate we’ll have an ongoing consultative process,” Hudson said. NIH is interested in learning the potential opportunities, barriers, and challenges that potential submitters to and users of the registry foresee as the database is constructed.
Genetic test kit manufacturers and laboratories offering genetic tests as a clinical service are encouraged to submit data to the registry. It is undecided who is responsible for test submissions in cases where companies are offering tests but performing them through a contract laboratory.
No plan exists to make participation in the GTR mandatory. “We think people will want to comply,” Hudson said. “We think there will be peer influence that encourages people to submit their test data. It seems like a gentle, friendlier, more collegial way to go.”
The National Library of Medicine will administer the registry, so it will be able to be electronically connected to other National Center for Biotechnology Information (NCBI) resources. Hudson said that each test listed in the database will have a unique identifier, which could then appear in scientific articles where the test is mentioned. She explains that because NCBI runs the biomedical-literature online database PubMed, any medical article that mentions a particular genetic test and its unique identifier could automatically be linked to its entry in the GTR.
James Ostell, chief of the Information Engineering Branch of NCBI, added that the GTR could “use the genome to link a number of aspects of the research and clinical testing communities to each other in a useful way.” He wrote in an e-mail to IVD Technology that “the registered test in GTR, with its supporting evidence about the validity of the gene’s connection to disease and the genetic changes which must be measured to determine that connection, is a type of synthesis and curation that can help focus the general researcher on specific medical applications of specific parts of the genome.” On the other hand, “when the research community makes new discoveries on the genome, GTR will have enough information about the genomic regions tested to inform the affected testing labs that there is new information relevant to their test or its interpretation,” he wrote.
The response of those involved with issues of genetic-test ethics and public policy has been positive. Joan Scott, Director, Genetics and Public Policy Center at Johns Hopkins University, said of the GTR announcement, “We would prefer having something that was mandatory. That being said, I think we are very pleased that NIH is taking on the role of setting up the infrastructure for the database because they definitely have the expertise and the experience.” She credited the leadership at NIH—specifically director Francis Collins—with getting the registry off the ground. “Ensuring that genetic tests are accurate and reliable, and that there’s information about them, I think fits right into his overall philosophy by making sure that these technologies are put to appropriate and good use.” She believes, too, that NIH is “highly aware of the new (genetic) discoveries being made and very cognizant of how these get translated into clinical practice.”
Currently, obtaining comprehensive information on genetic tests is difficult. The site GeneTests.com, funded by a contract with the National Institutes of Health, is one source; however, it excludes certain types of tests and is limited in its functionality.
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