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Pennsylvania health system leading the country -- and soon the world -- in Precision Medicine


DANVILLE, Pa. -- Move over Iceland and England. Geisinger is marking a major milestone today - National DNA Day - by announcing that 100,000 recruits have 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.

Health system officials chalk up that success to Geisinger patients and their “stability” in the region.

“The people of Pennsylvania are incredible,” said David T. Feinberg, M.D., MBA, Geisinger president and CEO. “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, a goal that will render 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 health care by finding ways to diagnose medical conditions earlier or before they appear and also find new treatments or medications to manage these diseases,” said Geisinger Chief Scientific Officer David H. Ledbetter (right), PhD.

Geisinger’s study is also the largest in the United States that combines electronic health records 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,” Dr. Ledbetter explained. 

Aris Baras, M.D., and Alan Shuldiner, M.D., co-heads of the Regeneron Genetics Center, reinforced that Geisinger’s strong patient relationships and foresight in leading the electronic health record movement have been pivotal to the success of the collaboration.
“Genetics has always been at the heart of Regeneron’s scientific approach, and the Geisinger collaboration has given us the resources to advance our research efforts even further. In just two years of partnership, we have made novel discoveries, confirmed long-held hypotheses and published in esteemed medical journals,” said Dr. Baras.
“Most importantly, together we are advancing our shared mission of improving the lives of patients in need, and we look forward to continuing this work in the years to come,” added Dr. Shuldiner.

Around the world, Iceland was one of the first to launch a large-scale genomic analysis of its population in the late 1990s, a study that maxed out at 140,000 participants. The United Kingdom also took a giant leap into genomic medicine with the 100,000 Genomes Project, launched in 2012.
In the United States, President Barack Obama unveiled the Precision Medicine Initiative, a national  research effort aimed at revolutionizing how we improve health and treat disease by building a national research cohort of one million or more U.S. participants in 2015.  Launched with a $215 million investment in the President’s 2016 Budget, precision medicine promises to accelerate biomedical discoveries and provide clinicians with new tools, knowledge and therapies to select which treatments will work best for which patients.

The Geisinger-Regeneron MyCode collaboration is ahead of the federal 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,”  Dr. Feinberg explained. “Geisinger is uniquely poised for precision medicine. We’re the only organization taking a population health approach to genomics.”

About the MyCode Community Health Initiative®
The Geisinger-Regeneron collaboration, part of the MyCode Community Health Initiative, is the largest whole exome-sequencing project in the U.S. linked to the electronic health record of a single, integrated healthcare delivery system.

Geisinger’s genomic research program offers unique features, including: 

  • An unusually stable population of three or more generations providing enhanced capabilities for longitudinal research studies.
  • Comprehensive electronic health information going back 20 years; enabling research to match gene variants (genotypes) with health symptoms/outcomes (phenotypes).
  • A full opt-in consenting process for participants that meets modern standards for biobanking and genomics.
  • Broad permission for recontact with our engaged patient-participant population.
  • A commitment to return of clinically actionable**, sometimes life-saving, results to patients, their children and grandchildren.

If you are a Geisinger patient and would like more information on participating in the study, email or call  844-798-1687.

About Geisinger
Geisinger is an integrated health services organization widely recognized for its innovative use of the electronic health record and the development of innovative care delivery models such as ProvenHealth Navigator® and ProvenCare®. As one of the nation’s largest health service organizations, Geisinger serves more than 3 million residents throughout 45 counties in central, south-central and northeast Pennsylvania, and also in southern New Jersey with the addition of AtlantiCare, a National Malcolm Baldrige Award recipient. The physician-led system is comprised of approximately 30,000 employees, including nearly 1,600 employed physicians, 12 hospital campuses, two research centers and a 510,000-member health plan, all of which leverage an estimated $8.9 billion positive impact on the Pennsylvania economy. Geisinger has repeatedly garnered national accolades for integration, quality and service. In addition to fulfilling its patient care mission, Geisinger has a long-standing commitment to medical education, research and community service. For more information, visit, or follow the latest Geisinger news and more on Twitter and Facebook