Geisinger’s biobank and the MyCode® Community Health Initiative began in 2004 with a phone call from Glenn D. Steele Jr., MD, PhD, Geisinger’s former president and CEO, to David H. Ledbetter, PhD, then at Emory University’s School of Medicine. Speaking genetically, not meteorologically, Steele described Geisinger’s Pennsylvania footprint and resources to Ledbetter as being, “as close to Iceland as you’ll ever find in the United States.”*
Ledbetter, now Geisinger’s Chief Scientific Officer, found many similarities between Iceland and Geisinger’s central Pennsylvania location. Like Iceland, Geisinger’s regional population was stable, often with three generations in the area. In addition, Geisinger‘s healthcare was centralized with a robust electronic health record (EHR) in place since 1996. According to Ledbetter, the qualities listed above, along with Geisinger’s tradition of innovation, creates, “a healthcare laboratory and an ideal model to learn when and how genetic information can improve health.” Ledbetter described Geisinger’s service area as, “the ideal place in the United States to do longitudinal, large scale, genomic medicine research.”
By 2012, genetic research initiatives were launching worldwide. For example, the United Kingdom began the 100,000 Genomes Project, a government-funded initiative to sequence 100,000 whole genomes from National Health Services patients. What’s more, California-based biotechnology pioneer Amgen purchased Iceland’s deCODE Genetics, a global leader in analyzing and understanding the link between the genome and disease susceptibility. This collaboration provided access to the genetic and medical data of 140,000 Icelanders as well as an enhanced ability to identify and validate human disease targets.
The Amgen/deCODE collaboration prompted Regeneron Pharmaceuticals, Inc., a leading science-based biopharmaceutical company in Tarrytown, NY, to seek a United States-based health partner. With an extensive EHR, good clinical data, a rapidly growing biobank, a scientific team in place, and a broad consent process allowing research use of samples and data along with the ability and commitment to return research results, Geisinger’s biobank moved to the national forefront.
In 2014, Geisinger and Regeneron announced their human genetics research collaboration. As part of the Geisinger Regeneron agreement, Geisinger is collecting samples from consented patient participants, while Regeneron sequences the samples to generate de-identified genomic data. This partnership which now anticipates up to 250,000 patients is one of the largest U.S. populations of participants providing genetic material for analysis and comparison in examining long-term health outcomes.
“The combination of Geisinger and Regeneron brings together a unique set of assets and expertise that allows us to conduct research of this size and scope. The long term benefits to human health and patient care will be tremendous. Together, Geisinger and Regeneron offer the expertise, the experience, the reach and financial resources to fulfill this promise,” explains Steele.
“For Geisinger, the Regeneron relationship is about the potential to improve individualized patient care,” comments Ledbetter. “We expect that many of our patients will directly benefit from their participation in this research because of Geisinger’s ability to validate and return clinically actionable results to them,” he says. “This collaboration has the potential to provide Geisinger with tools to transform our ability to anticipate disease before the onset of symptoms, diagnose chronic and potentially fatal conditions before it’s too late to intervene, and determine how best to optimize the health and well-being for each of our patients,” adds Ledbetter.
One of the cohorts that the partnership plans to look at initially is the “Wellderly” or well elderly. Researchers can often learn the most about diseases from those who do not get sick. “There has to be something interesting we can learn from an active 90-year old smoker with high cholesterol who has not yet had a heart attack,” notes H. Lester Kirchner, PhD, director of Biostatistics. Other areas of early exploration for the partnership include: cardiovascular disease, obesity, and diabetes.
*In 1998 researchers realized that Iceland represented a genetic goldmine. It was a small island nation with only 300,000 genetically and phenotypically homogenous inhabitants. In addition, Iceland had a centralized healthcare system and medical records. A private company, deCODE Genetics, proposed partnering with the Icelandic government to create a biobank that joined biospecimens with health record information.