A public, online registry providing information on the hundreds of available genetic tests is set to launch this coming spring, US National Institutes of Health (NIH) officials said at a public meeting in Washington DC this afternoon. But many of the details – such as what information it will include – have yet to be determined.
The NIH first publicly announced plans to create such a registry in March, though the idea had been circulation for at least a year. Exactly what the agency will do has been an active topic of discussion in a growing industry.
NIH director Francis Collins began the meeting by outlining some things that the registry would not do. Many in the genetics community have pushed for the registry to be mandatory rather than voluntary, but Collins gave a definitive “no” to such hopes today. Also, he said, “to be honest, it would take resources beyond our means” to review data in the registry to ensure it is accurate.
Next, agency personnel summarized some key concerns raised by the 68 comments submitted so far in response to a Request for Information (RFI) published in May. They also demonstrated a prototype of the database, which will be hosted by the National Center for Biotechnology Information. The bulk of the meeting was dedicated to the discussion of five focus questions raised by the comments::
1. If the tests to be included are to be phased into the registry, which types of tests should be included early on versus later?
2. How should the registry asses a test’s clinical utility?
3. How much (if any) information should the registry include on the prices of gene tests?
4. What safeguards can prevent users from misunderstanding, misinterpreting or misusing the information in the registry?
5. How will users with varying degrees of expertise be educated on how to interpret the registry’s data fields?
Short presentations by 11 of the commenters and a panel discussion that followed revealed the huge range of opinion on these issues. Thoughts were split, for example, on whether to start with tests for diseases caused by single genes or with tests for diseases with more complex causes, for which interpretation is much less well understood.
Participants also pointed out the difficulty in defining a test’s clinical utility, noting that some of the data supporting such tests are extremely new, and that utility is determined by patients and their doctors under very specific conditions. Price was another contentious issue, with companies generally taking the line that such information is proprietary and difficult to include, and researchers and patient advocacy groups insisting that clinicians and consumers deserve at least a ballpark estimate.
Many also spoke of the need for some sort of system for ensuring accuracy of the registry’s content, despite the added resources this would require. “Having the registry without some sort of outside evaluation, I think, would be a mistake,” said Robert Nussbaum, chief of the division of medical genetics at the University of California, San Francisco. “I just don’t think we can do it on the cheap.”
Kathy Hudson, the agency’s deputy director of science outreach and policy (and NIH Chief of Staff), told Nature after the meeting that reviewing each entry would simply take too long, but that linking to publications assessing different tests might provide such insight.
How the NIH will solve these questions remains to be seen, but the comment period is open until 12 November so it’s not too late to have your say. Submit comments to the agency using the contact info available here.