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The Marriage of Genomics and I.T.
February 2007
The completion of the Human Genome Project in 2003 marked the beginning of a new frontier for health care.
The 13-year international initiative, sponsored by the U.S. Department of Energy and the National Institutes of Health, consolidated findings from more than 35 research universities and institutions. It identified the 20,000 to 30,000 protein-coding genes-the exact number is still uncertain-and their sequence of 3 billion base pairs of chemicals that constitute the human genome.
Recent research in the field of genomics, the study of genes and their base pairs, has linked variations in the human genome to health and disease, such as how well a person metabolizes certain medications, or a predisposition to specific conditions such as diabetes or Parkinson's disease.
To help stimulate additional genomic research, the Human Genome Project has transferred its results to the private sector. The National Center for Biotechnology Information-an institution run by the NIH and the National Library of Medicine-stores and provides access to the information.
The release of so many findings has opened the floodgates for more complex genomic analyses. It's also spawned the development of more than 1,000 genetic variation tests designed to determine numerous health traits within patients. As costs for these tests decrease, and clinician and patient interest in them increase, a revolutionary new field of personalized medicine is evolving, says Fran Turisco, research director in the emerging practices department at First Consulting Group Inc., Long Beach, Calif.
"Now that researchers know how to map the human genome, they are looking to understand how the variants in an individual's genetic makeup can affect their response to certain medications and their propensity for disease," she says. "There will be more tests coming out that can help with diagnoses and treatment. The results of these tests can have a huge impact on patient care."
Genetic tests now are being performed on thousands of individuals in various clinical and research laboratories. However, there literally is a missing link that's preventing the test results from being used to maximum benefit-the lack of I.T. connections to other forms of clinical data.
Genetic laboratories often maintain silos of genetic test results data and have not electronically "married" that information to other clinical patient data that could provide a better understanding of what the results mean for a specific patient.
"There are lots of genomic discoveries being made, but there's a big gap between the discoveries and real world practice," says Ron Paulus, M.D., chief technology and innovation officer at Geisinger Health System, Danville, Pa. The delivery system has nearly 30 researchers studying genomic markers for obesity. It also operates a genetic testing lab and an emerging biobank that collects and stores biological specimens that will be tested to determine how well medications work for individuals, based on patients' genetic markers.
"Our resources will make us a valuable clinical translation partner and research site for basic genetic discoveries. The challenge is finding ways to get that information into clinical practice," Paulus says.
Under current practices, genetic labs often fax or e-mail results to an ordering physician at a hospital or practice, says Heidi L. Rehm, clinical molecular geneticist for the Laboratory for Molecular Medicine within the Harvard-Partners Center for Genetics and Genomics in Boston. But rarely is that information integrated into an electronic medical records system or even a paper chart in a way that physicians can easily find them, much less link those test results to other clinical indicators or be alerted to how the results should affect a patient's treatment regimen.
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