By combining clinical data from electronic health records with genetic sequencing, Geisinger is making anticipatory medicine—the prevention of early-onset cancer and cardiovascular events—a reality for its patients who are at high risk for these inherited diseases.

Geisinger executives contend that its MyCode Community Health Initiative has identified more than 500 patients who are at increased risk and has uncovered previously undetected cases of cancer and heart disease, enabling its physicians to treat them much earlier than they could have otherwise.

“Standard screening tests such as colonoscopy, mammography and cholesterol measurement are fine for individuals at average risk for cancer and heart disease but are inadequate for people whose genetic profiles put them at much higher risk,” the execs wrote last week in the Harvard Business Review. “For those individuals, we need a different approach that accurately forecasts their risk and anticipates their health needs. To this end, Geisinger has launched a DNA sequencing project with the potential to identify virtually everyone in our patient population who is at increased risk for early onset, inherited cancer and cardiac events.”

According to David Ledbetter, Geisinger’s executive vice president and chief scientific officer, current clinical guidelines fail to identify about half of the high-risk individuals in the population who would benefit from genetic testing. However, he believes the MyCode Community Health Initiative—a precision medicine research effort launched in 2007 by the Danville, Penn.-based provider—could serve as a model for other organizations on how to integrate genomics and data science into healthcare.

“We think there is clear evidence of clinical utility and improved health outcomes,” says Ledbetter. “Most physicians at Geisinger when we started the research project didn’t quite understand the potential value of this kind of DNA sequencing data. But, as soon as they get one positive result on one of their patients, they’re extremely excited about Geisinger being a place where they can offer very advanced medicine and new options to their patients to reduce their risk of early cancer and early cardiovascular disease.”

Also See: EHR data mining identifies undiagnosed genetic diseases

To date, Geisinger has enrolled more than 190,000 participants in the MyCode Community Health Initiative from across Pennsylvania and New Jersey. These volunteers donate their DNA through a blood sample and provide their consent to allow researchers access to their genetic information and EHRs, which provides a rich data set for genomic and precision health research.

Geisinger claims to be the only health system in the country doing genomic medicine on a large-scale, population basis. They have partnered with Regeneron Genetics Center, a biopharmaceutical company in Tarrytown, N.Y., to generate clinical reports with testing results that are put into the EHR and are provided to patients who are then offered genetic counseling about their increased risk for early-onset cancer and cardiovascular disease, says Ledbetter.

“The response by our patients and by our providers has been so positive,” he adds. “We’re now looking at how to expand DNA sequencing to more Geisinger patients, and even questioning whether we’re ready now—or very soon—to move from a research project framework into more routine clinical care. So, we’re trying to design some pilot studies.”

Although Ledbetter believes about 3 percent to 4 percent of MyCode participants will be found to have genetic variants associated with a high risk of disease, he predicts that number could rise to as high as 10 percent in the not-too-distant future as the roles of additional genes and variants in disease are understood.

In related news, on Thursday a study by researchers from Geisinger and the Regeneron Genetics Center was published in the New England Journal of Medicine reporting the discovery of a gene variant associated with a significant reduction in the risk for chronic liver disease. The DiscovEHR study leveraged DNA (exome sequencing) data from more than 46,500 MyCode Community Health Initiative participants and their EHRs.

“The discovery of this gene variant and publication of this important study in the New England Journal of Medicine is another example of the benefits of our historic collaboration with Regeneron and of Geisinger’s long-standing investment in electronic health records and its research program,” said Ledbetter, who notes that Geisinger and Regeneron are creating one of the world’s most comprehensive genetics databases, matching genetic data and de-identified EHRs.

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