Geisinger's precision medicine efforts exceeding goals through EHR-linked genomics

Geisinger Health System has achieved 100,000 recruits signed up for the health system’s major biobank and DNA sequencing study known as the MyCode Community Health Initiative.

Launched in January 2014 in collaboration with the Regeneron Genetics Center, the MyCode Community Health Initiative originally set out to recruit 100,000 study participants. That target, however, was reached in only two years as the research program gained momentum much faster than expected, according to a release.

Geisinger’s study is also the largest in the U.S. that combines EHRs linked to large-scale DNA sequencing data. 

“MyCode is not only one of the world’s largest genomic studies, it’s also the most comprehensive with medical record data going back to 1996. Combining DNA sequence data with 20 years’ worth of medical records is groundbreaking,” said Geisinger Chief Scientific Officer David H. Ledbetter, PhD.

Geisinger president and CEO David T. Feinberg, MD, MBA, praised the local community for the program's success. “The families in our core markets are multi-generational and the population is incredibly stable, meaning they don’t move away from the area. When we ask to look into their genome, they tell us ‘yes’ based on trust and respect. And that plays directly into what’s happening when it comes to our success with genomics.”

Geisinger researchers are now setting their sights on at least 250,000 participants, which would make the Pennsylvania-based health system a global leader in large-scale genetic research. The information gleaned from the MyCode study will contribute to a broad range of research aimed at understanding, preventing or improving treatments for disease.

“Our ultimate goal is to help improve healthcare by finding ways to diagnose medical conditions earlier or before they appear and also find new treatments or medications to manage these diseases,” said Ledbetter.

The Geisinger-Regeneron MyCode collaboration is running ahead of the goals set for President Obama's Precision Medicine Initiative, having already sequenced the exomes--the portion of DNA that contains disease-related information--of more than 60,000 participants and providing validated results to those who show risk for specific disease.
 
Currently, Geisinger is returning results to patients who are at risk for 27 conditions, for example Lynch syndrome, which can result in a higher than normal chance of developing colorectal cancer, endometrial cancer and various other types of aggressive cancers at a young age, or familial hypercholesterolemia, which can cause heart attack and death at an early age.

“When we receive these results, we build this information into our patients’ electronic health record which allows us to practice anticipatory medicine,” said Feinberg. “Geisinger is uniquely poised for precision medicine. We’re the only organization taking a population health approach to genomics.”