An editorial this week in the journal Science Translational Medicine (free registration required) calls for reducing the barriers now limiting the connections between research on the human genome and electronic health records, with opportunities for businesses in the health care field.
The editorial by Susan Desmond-Hellmann, chancellor of University of California at San Francisco (UCSF), and an oncologist by training, cited a report by a National Research Council task force she co-chaired last November that outlines a framework for connecting the growing number of electronic health record systems to the advancing knowledge of human health at the molecular level.
The report, Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease, calls for redefining disease by its underlying molecular and environmental causes, rather than physical signs and symptoms. This new taxonomy of disease, as the report calls it, would enable physicians to more precisely target therapies to a patient's molecular makeup, as well as the disease.
The framework described in the report is a seven-stage information commons modeled on the layered geographic systems underpinning familiar online mapping services. In this case, the layers extend from environmental and social conditions at the top to individual patient data at the bottom, with research and other patient data stratified in between.
Meeting the breakthrough price threshold
Populating that commons, say the report authors, has become possible due to advances in biomedical systems, diagnostics, and electronic health records. But the task force's report itself is a breakthrough of sorts, in that it proposes a way of putting the pieces together into a meaningful structure that can encourage companies to develop these systems and clinicians to actually use them.
Advancing genomics technology has made an individual's molecular data for research or diagnostics more accessible. Understanding the human genome, coded in DNA, provides an individual's molecular blueprint. Life Technologies (NASDAQ: LIFE) in Carlsbad, California is developing a bench-top analyzer that the company says can sequence the entire human genome in one day for $1,000. The Precision Medicine report notes the $1,000 price for a whole-genome analysis as a threshold level, where it can become part of a physician's routine tests.
On the clinical side, the adoption of electronic health records has accelerated in the past two years, in part as a result of the 2009 Recovery Act. An analysis of data from the American Hospital Association by the Office of the National Coordinator for Health Information Technology released in February shows the percentage of hospitals adopting electronic health records expanding from one in 6 (16.1%) in 2009 to more than one-third (34.8%) in 2011.
One important caveat to note in these data: the vast majority of the electronic health care record systems installed so far in hospitals are limited in the data they capture to basic information about the patient, medications, and test results. Only about 9 percent of the systems installed are considered comprehensive and include images, clinician notes, and decision-support modules.
From the lab to point of care
Nonetheless, researchers and clinicians are taking the first steps in extending DNA diagnostics to point-of-care decisions. In a paper presented earlier this month at the American Association for Cancer Research annual meeting, Elaine Mardis at Washington University in St. Louis described ways of using whole-genome sequencing to monitor the treatment of cancer patients and guide treatment decisions.
Oxford University in the U.K. and Illumina Inc. (NASDAQ:ILMN) in San Diego are sequencing the whole genomes of 500 people with a range of life-threatening diseases. The research will explore how whole-genome sequencing can improve diagnosis and treatment decisions for individual patients.
Illumina is a developer and manufacturer of genomic analysis tools, with one of those tools -- its HiSeq 2000 systems -- generating data for the 500 test genomes. The project will focus on cancer, immunological disorders, and rare Mendelian diseases, all involving mutations that would be difficult or impossible to discover by standard genetic tests.
Health insurance companies are among those interested in learning more about the potential of advanced technology in medical decision-making. Aetna Inc. (NYSE: AET) in Hartford, Connecticut and Harvard Medical School are partnering to find new ways to analyze health care data to improve the quality and affordability of health care. One focus of the partnership is to determine how claims data and clinical data in electronic health records can best be used to predict disease and monitor the outcomes.
These first steps correspond to some of the actions recommended by the task force co-chaired by Desmond-Hellmann, including pilot studies to start populating the framework and the encouragement of partnerships among stakeholders. But the Science Translational Medicine editorial aims squarely on the nervousness of patients that appears to be holding up progress on its implementation.
"Two of the most daunting bottlenecks," says Desmond-Hellmann, "are the low rates of participation in clinical trials and the current emphasis on patient privacy in research and clinical settings." She notes that fewer than five percent of patients currently participate in clinical trials, and the Health Insurance Portability and Accountability Act (HIPAA) promises penalties for any who breach patient privacy. These penalties have resulted in an increasing conservatism about access to and pooling of patient data.
Desmond-Hellmann calls on patient advocates to take up the cause of precision medicine, much like they did for HIV and AIDS in the 1980s that concentrated the public's and policy makers' attention on the issue and prompted action. "A unified group," she says, "of patient advocates pushing government, academia, private industry, and caregivers to create a new social contract through which patients both contribute and benefit would be a powerful force."
Disclosure: I have no positions in any stocks mentioned, and no plans to initiate any positions within the next 72 hours.
