The US Department of Health and Human Services has kicked off an effort to integrate genetic and genomic data with clinical information systems and electronic health records.
Michael Leavitt, HHS secretary, announced the initiative on Sept. 12 at a meeting of the American Health Information Community, a public-private collaboration HHS created last year to guide the development and adoption of electronic health records as part of the national health information technology initiative.
Leavitt said at the meeting that he has put together a “team that is working across HHS” — including 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 is “highly focused” on integrating genomic data with medical records.
Greg Downing, director of the Office of Technology and Industrial Relations at NIH, is coordinating the effort.
“Healthcare providers need to be able to consider genomic information in conjunction with the pharmacology of medicines that they prescribe,” Leavitt said. “Ultimately, personalized medicine will mean using our genomic information in a way that will enable us to deliver healthcare that’s unique to each one of us. It will enable our healthcare system to be based on the treatment of individuals, rather than averages.”
Personalized medicine “is a lot closer than you think,” Leavitt said, citing the falling costs of genome sequencing and other genomic technologies. However, he noted, converting genetic discoveries into better healthcare on a large scale “requires systems that can manage large volumes of information about individual patients.”
Furthermore, he noted, “this information will have to be managed in a standardized way to be used effectively.” Leavitt described the cross-HHS initiative as “an opportunity to think through ways to handle that information now before we’re mired in hundreds or thousands of competing standards for it.”
The initiative is a “green field,” he said. “This is a place where we could start now and incorporate the capacity to store genomic profiles as a part of our electronic health record.”
In a brief presentation outlining personalized healthcare “considerations” for the AHIC, NIH’s Downing said that the Human Genome Project has been an important factor in the drive toward personalized medicine, “but an important enabling component to patient-centric care is health IT, and much that has been going on in the [AHIC] in the last year is really setting the pipeline, if you will, for the integration of health IT and genetic information that we believe will be transformative.”
Neither Leavitt nor Downing offered much detail about what the HHS envisions for the initiative, and HHS officials declined to provide further comment, citing the early state of the effort.
It is still unclear what role AHIC may play in the initiative. In response to a question following Downing’s presentation, David Brailer, National Coordinator for Health Information Technology at HHS, said that “we are currently considering how to organize the [AHIC’s] part in that. Whether it’s an independent workgroup or part of another [workgroup] is undecided.”
Leavitt added that “there will be a workgroup, but its relationship with AHIC is the question.”
Further details of the effort will be discussed at the next AHIC meeting, scheduled for Oct. 31 in Washington, DC.
Initial feedback was positive. After Downing’s presentation, William Winkenwerder, assistant secretary of defense for health affairs at the Department of Defense, commended Leavitt’s foresight and pledged the support of DoD. “We maintain a very large DNA repository and a tissue repository that goes back 80 years and we need help on this, too, and I think we could offer some technical support,” he said.
Others who have been wrestling with the challenges of merging genomic data with clinical information for some time were a bit more circumspect. While there are a number of effective data standards for genetic and genomic information available, “not all clinical labs have adopted these standards, so that will be a challenge right off the bat,” Isaac Kohane, director of biomedical informatics at the Harvard Medical School-Partners Healthcare Center for Genetics and Genomics, told BioInform.
Kohane, who also leads the I2B2 (Informatics for Integrating Biology and the Bedside) National Center for Biomedical Computing, said that he was aware of the HHS effort, but is not directly involved in the initiative.
He noted that the complexity and uncertainty involved in interpreting genomic-based diagnostic tests poses formidable challenges to the creation of a fully functional national IT infrastructure to support personalized medicine.
“The science of genomics is still in its infancy, and the interpretation of a lot of these tests is fundamentally a probabilistic one,” he said. “But in order to factor in all these different probabilistic relationships between these genes in response to treatment or prognosis, you need a vast database of all that’s been found and how to best prioritize these, and how are they relevant to patient data.”
“Healthcare providers need to be able to consider genomic information in conjunction with the pharmacology of medicines that they prescribe.”
Kohane noted that “a thoughtless mass testing” of all potential genetic variants “will lead to a huge number of false positives, of patients diagnosed with diseases they don’t have. In a paper he co-authored that was published in July in the Journal of the American Medical Association called, “The Incidentalome: a Threat to Genomic Medicine,” Kohane estimated that around half the population could end up being falsely diagnosed “with even a modest use of the kinds of chip-based technologies currently available to measure tens of thousands of genetic variants.”
As a result, the informatics decisions underlying the merger of genomic data with clinical information can’t be taken lightly, Kohane cautioned. “The means for aggregating that knowledge, prioritizing it, and then using it effectively in the clinic is absolutely essential if we’re to avoid the kind of false positive rate that would shut down the genomic enterprise,” he said.
Kohane added that a national initiative to guide development of a personalized healthcare IT framework should include a number of stakeholders not currently represented in the 17-member AHIC or HHS, including genetic testing labs, large laboratory companies, health IT vendors, and physicians.
The integration of genomic data with healthcare records is bound to be “a work in progress for many years to come since we’re only just starting,” Kohane said, although he cited a number of initiatives underway that could make significant progress “within a year.”
One limiting factor in the effort, he said, will be the rate at which electronic healthcare standards themselves are disseminated. “That’s the upper limit.” Another limiting factor — and one that extends well beyond IT issues — is payers, Kohane said. “Who’s going to pay for all these tests?”