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Effective dissemination of genetic data creates a challenge.
Personalized medicine will target diagnostics and therapies based on an individual's genetic makeup, pinpointing disease risk, for example, or determining which medication will work best for the patient. There's just one little problem: how to collect, analyze, disseminate, and keep up to date the massive amounts of data generated by genetic testing. The future, says Sandy Aronson, executive director of information technology at the Partners HealthCare Center for Personalized Genetic Medicine (PCPGM), is networks.
In March, Boston-based PCPGM conducted what Aronson believes is the first-ever successful electronic transmission of comprehensive genetic data, sending it cross-country to Intermountain HealthCare in Salt Lake City and depositing it in a patient's EHR using Cambridge, MA-based InterSystems Corporation's Ensemble software platform and a secure network called VariantWire.
"Genetic data is pretty complex data. So the modeling associated with it is significant," Aronson says. "There was a huge amount of validation testing that had to be done to ensure information accuracy [and] a big effort associated with creating a standard for this interchange." Right now, the system is a simple point-to-point connection between the two organizations. The ultimate goal is for VariantWire to serve as a hub for genetic test results.
Data management will become even more complicated in the next few years when the cost of sequencing the entire genome dips below $1,000 per person, says Michael Christman, president and CEO of the Coriell Institute for Medical Research, a nonprofit organization based in Camden, NJ, that has built a genetic database from nearly 5,000 volunteers, with a goal of 10,000. Both the volume of data and its complexity will "have a huge impact not just on medicine but on the information technology systems that you need to manage that," Christman says.
Networks are crucial because physicians must have a practical way to integrate multiple genetic tests from different laboratories into each patient's genetic profile and his or her EHR. They'll also have to keep abreast of updated information as researchers in a variety of settings make discoveries about genetic variants. "There's a whole field in genetic counselors and geneticists responsible for interpreting these variants, and they constantly work on making sure that the information that they provide to clinicians is as effective as possible—contains the information and is as clear as possible," Aronson says.
Physicians will need a lot of help with these tasks, Christman says. "One of the biggest barriers is physician education. Physicians are the ones who can order these genetic tests, and they are not knowledgeable about it."
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