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100k Sign Up for Geisinger’s Genomic Biobank & DNA Sequencing Study

by Fred Pennic 04/27/2016 Leave a Comment

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100k Sign Up for Geisinger's Genomic Biobank

Geisinger Health System, an integrated health system announced that 100k recruits have signed up for the provider’s biobank & 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 100k study participants; however, researchers are now setting a new goal of at least 250k. The information gleaned from the MyCode study will contribute to a broad range of research aimed at understanding, preventing or improving treatments for disease.

Geisinger’s study is also the largest in the United States 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,” 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.

 

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.

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.
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Tagged With: Geisinger Health System

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