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NIH Meets Public on Genetic Test Registry

By Matt Jones

WASHINGTON (GenomeWeb News) – Officials at The National Institutes of Health yesterday met with the public to discuss issues and concerns related to its online registry for genetic tests, a public resource for doctors, industry, researchers, and the public that it plans to roll out in the spring.

NIH Director Francis Collins yesterday aimed to assuage a few concerns about the Genetic Testing Registry (GTR), which is in its advanced planning stages, describing it as a necessary response to a field that is growing swiftly beyond the lab and into clinical practice.

Collins told a group of stakeholders yesterday at a meeting in Washington, DC, that the GTR, which will be run by the National Center for Biotechnology Information, is aimed at addressing the "growth in the number and types of tests and the increasingly complex methodologies" they employ. The registry is intended to fill "a serious gap in our understanding" about what tests are available and what they do, he said.

"I made GTR a priority because of its potential to enhance transparency, enhance science, and improve public health," Collins added.

Issues about what kinds of information the registry should contain and how it will be managed arose at the meeting, as Collins and other NIH officials gave the latest details on the GTR and exhibited an early draft of the website.

What kind of tests the GTR should include, and whether it should contain information about the clinical validity, utility, and price, were central issues brought up by stakeholders at the meeting and during a comment phase that began in June and will continue until November 12.

Collins sought to dispel some concerns about the resource, and said NIH will continue reaching out to the business, research, and regulatory communities and work with other government agencies to finalize its plans.

"First of all the GTR is a voluntary registry, and we will not ask for trade secrets of a confidential or commercial nature," Collins explained in response to what he said were rumors about the registry. "The GTR will not include test results from patients or consumers and will not pose a threat to patient privacy," he continued.

"In relation to existing databases, the GTR will not … replace [NCBI's] Gene Reviews, which will continue to go forward as a very valuable resource that all of us medical geneticists use," Collins added emphatically.

Common Concerns

In comments submitted to NIH from healthcare provider groups, industry, the research community, patient groups, and insurers, the GTR appears to be a welcomed resource. However, there are concerns about a few central issues, Amy Patterson, NIH's acting associate director for science policy, told the meeting.

Some of these comments pointed out that it would be critical to ensure accuracy of the information in the GTR, and some expressed the fear that users logging in to the GTR "will assume that test information on an NIH-sponsored website is accurate and valid," Patterson said.

Another common concern was that inaccurate, incomplete, or misunderstood information in the GTR could lead to harm to patients, such as inappropriate tests being ordered or insurance coverage being denied.

Patterson said that comments also showed worries that, although most stakeholders agreed that the GTR will fill an information vacuum, it also "could contribute to increased demand on the healthcare system" because physicians and consumers may become "more aware of the availability of certain tests" and order more of them.

Some comments suggested that the GTR should only include those tests with high sensitivity, specificity, and well-established clinical validity, she noted, while others worried that submitting data to the registry could be time-consuming and burdensome, particularly for small, niche labs that will have a hard time keeping their data on the GTR up to date.

After sorting through the public comments it has received so far, NIH has boiled them down to five central questions, which Patterson posed to the public meeting on Tuesday:

• If NIH opts to implement the GTR in phases, what genetic tests should it put in first?

• How should information about the clinical utility of tests be handled, considering that test-developers may not have that data available?

• What are the potential risks and benefits of including prices of tests in the registry?

• Can safeguards be put in place to prevent GTR users from misunderstanding, misinterpreting, or misusing the information found in the resource?

• What are the best ways to present materials explaining the GTR's various data elements to its disparate audiences, which will include researchers, physicians, industry, and patients, who all have different levels of knowledge about genetic tests?

Representing the National Society of Genetic Counselors, Barbara Harrison said that there simply may not be enough adequate safeguards to keep people from misinterpreting or misusing information from the site.

One way that NIH could address this issue, she said, is for it to post prominent disclaimers saying that just because a test is listed on the site does not mean it is approved in any way by federal regulators.

NSGC also advised NIH to include one or more genetic counselors as representatives on any panel it uses to review the resource on a permanent basis, Harrison said.

Andrew Faucett, associate professor at Emory University's Department of Human Genetics, suggested creating an outside review board that includes geneticists, researchers, and healthcare providers that would give feedback on tests that are listed in the GTR.

If clinical utility is to be included in the registry, Faucett advised, these could be based on an assessment of how the tests perform in diagnostic pathways, such as avoidance of invasive testing, improved disease description, or shortened diagnostic timelines. It will not be possible for labs to provide full clinical utility information, Faucett continued, adding that collecting that information will require the input of the research, laboratory, clinical, and patient communities.

Genetic Alliance President and CEO Sharon Terry said that the clinical utility information should be provided as transparently as possible. She added that commercial providers "should be required to indicate peer-reviewed literature associated with their test."

Terry suggested that defining the cost of the tests in the GTR could present a multifaceted issue, because costs include the costs of goods, commercial costs, gross costs, net costs, and others.

Addressing Terry's comments later in the meeting, Kathy Hudson, deputy director for science, outreach, and policy at NIH, clarified that the GTR will consider listing the prices of the tests, rather than the costs. The benefits of listing prices, Terry said, could be transparency, leveling effect, price control pressures, and consumer pressures, while the risks could include profit margins for the companies, potential antitrust or monopoly issues, and the transience of changing prices.

On the GTR in general, Terry said NIH has "the opportunity to bring order to the healthcare marketplace, and empower providers and consumers in the process."

The public comments and the discussions yesterday suggest that several issues still need to be ironed out before the GTR is ready to be deployed, particularly whether or not it will contain price listings and information about the clinical utility of the tests.

Patterson said that NIH will continue its ongoing engagement on the GTR with the US Food and Drug Administration, the Centers for Medicare and Medicaid Services, the Centers for Disease Control and Prevention, and the Agencies for Healthcare Research and Quality. NIH also intends to continue talking with stakeholders, hold focus groups on GTR prototypes, and analyze comments from yesterday's meeting before launching the registry.

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