The era of genomic medicine is upon us, and this discipline is finding its way out of the research laboratory and into clinical practice.
A project hatched more than a decade ago by geneticists including current National Institutes of Health Director Dr. Francis Collins, launched this year at a suburban Chicago health system.
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Since May, the four-hospital NorthShore University HealthSystem, based in Evanston, Illinois, has been using technology to identify patients likely to develop rare, hereditary diseases. The technology analyzes data from medical records, genetic tests and family history to assess risk. Those patients deemed to be at high risk are given the option of enrolling in personalized treatment and screening plans.
"We can identify people at different risks," effectively enabling personalized medicine, said Dr. William Knaus, director of applied genomics research at NorthShore's Center for Biomedical Research Informatics. "It's not one-size-fits-all anymore."
Knaus said that researchers have already found all of the "big" genetic links to major diseases. New discoveries, then, tend to be for less-common conditions.
At the center of the program is Health Heritage, an online genomic medicine decision support application that pulls in and continuously analyzes data from multiple sources. Knaus began work on this effort to connect genetic information with family history back in the early 2000s, thanks to an initial pilot grant from the Robert Wood Johnson Foundation.
The Health Heritage app meshes family history and genetic testing with health records.
Knaus was at the University of Virginia and Collins, a U. Va. graduate, led the Human Genome Project at the time. In 2000, Knaus asked Collins how a computer-savvy physician could contribute to genomic medicine, and Collins suggested that the latter find a way to make complete, accurate family medical histories available.
"All this new genetic information is great, but if you can't pair it with family history, then it's lacking," Knaus said. "No [electronic health record] has good family history. It's ripe for an external application."
It took nine more years before Knaus launched Health Heritage, only after he was able to connect his technology to an EHR, specifically one from market leader Epic Systems Corp. "You don't want to be ahead of the market," Knaus said. "I've been ahead of the market once before."
Knaus previously founded and ran Apache Medical Systems, a developer of clinical decision support technology for high-risk patients. EHR vendor Cerner Corp. bought Apache in 2001.
He came to NorthShore in September 2012 after 18 years at Virginia. "Their physicians are very comfortable with [EHRs]," Knaus said of his current employer. Three of NorthShore's hospitals were among the first in the nation to win industry recognition for having fully electronic records, analytics and the capability to share health information across the entire enterprise.
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Since the May launch, about 3,000 people have signed up for Health Heritage. The system has flagged 13 percent of those as being at high risk or potentially high risk for cancer.
"We tackled cancer first because that's the most complicated," Knaus said, adding that Epic was the "most complicated" EHR. The thinking, according to Knaus, is that if they could prove Health Heritage with a difficult disease and an intricate IT system, extending the technology to other conditions and EHRs would be relatively simple.
Health Heritage has 400 algorithms just for cancer. Knaus said he and his team are starting to build the system out for heart disease, diabetes and neurological conditions.
The company has partnered with GeneDx, a Gaithersburg, Maryland-based company that conducts genetic testing for rare, hereditary disorders when ordered by medical professionals. "Over time, we will slowly unite ours with the larger database," Knaus said.
Initially, the data has resided behind the NorthShore firewall, so NorthShore is not yet able to share the records, medical histories and analyses with other health care organizations. However, Knaus expects a nationwide rollout in 2015.
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