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Seeing Promise in Genomics-Based Electronic Health Records, HHS Creates PGx IT Workgroup Under AHIC

WASHINGTON — The US Department of Health and Human Services is keeping pharmacogenomics in mind as it develops a nationwide health IT infrastructure.
This week, HHS took steps to bring genetic testing within the fold of its broader health IT initiative by creating a personalized healthcare workgroup under the American Health Information Community, a public-private advisory committee formed in late 2005 to advance the development of electronic health records.
During a meeting of the American Health Information Community here on Tuesday, Michael Leavitt, HHS secretary and AHIC chair, said that AHIC would create the workgroup to address IT and other issues related to personalized healthcare, including genetic testing and genomic data standards.
The decision signals that HHS is moving quickly on an initiative that Leavitt initially disclosed at an AHIC meeting in September. At the time, he said he had put together a cross-HHS team — including representatives from the Food and Drug Administration, the National Cancer Institute, the Centers for Disease Control and Prevention, and the Centers for Medicare and Medicaid Services — that was “highly focused” on integrating genomic data with medical records, but he noted that AHIC’s role in the effort was still unclear [BioInform 09-15-06].
Following a panel discussion at this week’s meeting in which several experts discussed the current state of personalized medicine, Leavitt said, “this is such a big part of the future that our efforts at AHIC would be hampered if we did not consider these issues as part of our work.”
AHIC’s 18 members agreed on Tuesday to form the workgroup and Leavitt said that details of the new group’s activities will be discussed at the next AHIC meeting, scheduled for Dec. 12. AHIC currently includes seven workgroups.
While the personalized medicine’s workgroup’s goals have yet to be determined, David Brailer, former national coordinator for health information technology and AHIC vice-chair, presented five broad points that it would likely address.
The group will first survey existing standards efforts for genetic and genomic testing in order to get a better understanding of ongoing initiatives in the field. Second, the group will determine the “proper role” for current AHIC working groups and other ongoing health IT initiatives in advancing personalized healthcare.
Next, Brailer said, the workgroup would determine a plan for how genetic information standards would be deployed over the next two years. The next initiative would involve an evaluation of the privacy and security issues related to genetic data. Finally, the group would propose two cases in an area of clear clinical utility that would help “move the agenda forward.”
Gregory Downing, director of the NIH’s Office of Technology and Industrial Relations and coordinator of the AHIC personalized healthcare initiative, told BioInform after the panel discussion that the effort is currently in the “information-gathering phase,” and is still trying to determine “what’s known and what isn’t.” The next steps, he said, involve identifying “gaps” in what’s known in order to determine the proper role for AHIC going forward.
No Duplication
Brailer stressed that HHS is eager to support the development of a health IT infrastructure that enables personalized medicine, but that it doesn’t want to duplicate the efforts of existing initiatives. “I think we can help contribute without stepping into the entire universe of genomics and personalized medicine,” he said.
Panelists agreed that there is a role for the federal government in guiding development of standards in this field
Janet Warrington, vice president of emerging markets and molecular diagnostics R&D at Affymetrix, said that industry-led efforts such as the external RNA Controls Consortium and the Clinical and Laboratory Genomic and Genetic Standards initiative are promising signs that the genetic testing sector is moving toward harmonization, but noted that these initiatives are not sufficient to address the IT challenges of personalized medicine.
She stressed that a government-led nationwide health IT system that supports electronic health records presents a “completely different” set of issues than those presented by genetic testing alone. These issues include an “enormity” of IT challenges and a “variety of stakeholders with different agendas,” making it “difficult for industry to pull all the right people together.”
Warrington said the goal of electronic health records is “bigger than any one of us,” adding that “this is the perfect place for the government to lead.”
Warrington pointed out that the personalized healthcare issues under discussion at AHIC could have a very real impact on companies developing genomic-based tests. Affy’s AmpliChip received FDA approval nearly two years ago, she pointed out, and the company currently has more than 20 such tests in its R&D pipeline, including a test to classify leukemia subtypes. “We’re not thinking about this happening some time in the future,” she said. “This is happening today.”
John Glaser, vice president and chief information officer at Partners HealthCare, said that “the timing is terrific” for AHIC to throw its hat in the genetic testing ring, since many standards are emerging, and many have yet to emerge. “You should jump all over this,” he told Leavitt.
Joel Kupersmith, chief research and development officer for the Department of Veterans Affairs, echoed Glaser’s comment that the time is right for HHS to begin exploring the IT issues related to clinical genomics and personalized medicine.
Kupersmith discussed a pilot project underway at the VA to build a genomic medicine database with samples collected from consenting veterans. He said that the VA has currently collected around 30,000 samples in the pilot project, but is “just getting started” when it comes to evaluating current standards for integrating that data with existing VA electronic health records.
Kupersmith added that the VA is “delighted to sit at the table” with HHS to help drive development in the field.
Putting the Cart Before the Horse?
Other panelists were less sanguine about the role of data standards in enabling personalized medicine. Alfred Berg, chair of the department of family medicine at the University of Washington, Seattle, noted that the biggest barrier to broader adoption of genetic testing is not the lack of standards but “the lack of evidence that these tests lead to improved outcomes.”
Berg discussed an ongoing project under the CDC called Evaluation of Genomic Applications in Practice and Prevention, or EGAPP, which is completing a review of six genetic tests: early detection of ovarian cancer; testing before prescribing antidepressants; testing for family-related colon cancer; testing for response to colon cancer treatment; genetic profiling for cardiac risk; and breast cancer gene-expression profiling.

“This is such a big part of the future that our efforts at AHIC would be hampered if we did not consider these issues as part of our work.”

While Berg was unable to provide details of EGAPP’s findings, he said that so far the “quantity and quality of evidence supporting testing in typical practice settings is disappointing.”
As an example, he noted that there are no randomized trials showing that patients tested with the CYP450 AmpliChip marketed by Roche have better clinical outcomes than patients who are not tested. While “this doesn’t mean that you shouldn’t test,” Berg noted, he stressed that primary care physicians have little reason to run these tests without evidence of improved outcomes.
While noting that the AmpliChip and similar tests have “enormous promise,” Berg said that most physicians have a “wait and see” attitude toward personalized medicine that has little to do with IT standards or electronic health records.
Kathy Hudson, director of the Genetics and Public Policy Center at Johns Hopkins University, pointed to several other barriers to adoption of personalized medicine that may fall outside the scope of genomics-based electronic medical records, including the lack of a genetic testing specialty under CLIA regulations, which could hamper the quality of genetic tests.  
Hudson noted that the Centers for Medicaid and Medicare Services decided this summer not to pursue a genetic testing specialty under CLIA, despite the fact that it had “reiterated its commitment” to do so for nearly a decade. In late September, the GPPC, the Genetic Alliance, and Public Citizen filed a formal petition asking CMS to create a genetic testing specialty, but the agency has not yet agreed to reconsider its position.
In addition, Hudson said that despite the low level of genetic literacy among the public, surveys indicate that the majority of US citizens approve of genetic testing and expect the government to ensure the safety and accuracy of these tests.
Stakeholders in personalized medicine will have to “earn” the public’s confidence” by “demanding transparency across all the players” and by encouraging engagement with the community, she said.
A version of this article originally appeared in BioInform’s sister publication Pharmacogenomics Reporter.

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