The most hyped scientific achievement of our time-the complete sequencing of the human genome in 2003-has taken awhile to make its utility obvious in clinical care. But consider:
*Nicholas Volker of Monona, Wis., has made it past the age of 5 because a full sequencing of his genome at the Medical College of Wisconsin revealed the rare genetic variant underlying the disease that was making holes in his intestines-an answer that had eluded all standard genetic testing. The research team also confirmed that his particular genetic profile made a bone marrow transplant the right treatment choice. Nicholas hasn't had an intestinal surgery since then-after enduring 100 of them before the diagnosis-and can eat real food. The medical college now reviews a steady stream of requests to sequence the genomes of children with mysterious diseases.
* Lukas Wartman, M.D., of Washington University in St. Louis, developed the leukemia that he had been studying as a researcher. His prognosis was grim until a sequencing of both his genome and his cancer's genome suggested that a drug hitherto approved only for kidney cancer might be effective. He's now in remission and doing well, and his physician, John DiPersio, M.D., says he can't keep up with the thousands of e-mail inquiries generated by a recent front-page article in The New York Times.
*The Mayo Clinic is now assuming that eventually it will sequence the genomes of every patient who walks through the door. Its Center for Individualized Medicine will officially open a clinic later this month, and the center's "Clinomics" program is specifically intended to develop ways to translate the genome's unwieldy mass of data into information that physicians can use to diagnose and treat. Clinomics co-director Eric Wieben says Mayo has been using sequencing techniques to guide therapy for cancer patients, and the new clinic will begin by focusing on cancer and "diagnostic odysseys"-cases where the patient hasn't been able to get a definitive diagnosis on a disease that might have genetic origins.
Now that the science of genomics has been refined to the point it can have widespread impact on clinical care, it's up to health I.T. to push it to the front lines. To that end, there's still a lot of work to be done, but experts predict it's going to happen a lot sooner than most HIT leaders think.
Elizabeth Gardner’s Cover Story in the September issue of Health Data Management addresses the work being done and challenges ahead for HIT to translate genomic data into knowledge and get the knowledge in front of clinicians and patients.
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