Geisinger Health System Lays Groundwork for Precision Medicine

Geisinger Health System is doing its part to fix the global health crisis by approaching the problem from a community angle. As little as two tablespoons of blood or a saliva sample from patient-participants could be the key to better, more effective health care.

Geisinger Health System’s MyCode Community Health Initiative includes a system-wide biobank collected from more than 200,000 patient-participants. Geisinger locations in Pennsylvania and New Jersey can enroll participants in the program. Geisinger and Geisinger collaborators analyze the DNA with the goal of advancing health care. Some or all of the participants’ genes may be studied, along with their electronic medical records, to determine changes in genes over time that make them sick or keep them healthy.

Geisinger Health System Lays Groundwork for Precision Medicine.


For now, only Geisinger patients are permitted to participate. This is a unique feature that allows researchers to access more than 20 years of electronic health records and review the status and progress of the patients’ health against what they find, or don’t find, when sequencing their genes.

In the future, the initiative may be opened to non-Geisinger patients if researchers can gain access to electronic health records. The initiative’s success relies on discovering gene variants and patterns that emerge in health records that indicate what these mutations do. Without access to records, it would be impossible to make the connection between the discovery and the potential health consequences.

Geisinger’s initiative provides new opportunities to learn about genomic and precision medicine. By analyzing specific segments of DNA, the researchers might be able to identify early markers for diseases and more effective methods of treatment.

They have prioritized three diseases or conditions: hereditary breast and ovarian cancer, Lynch syndrome cancers, and familial hypercholesterolemia (inherited high cholesterol) because the Centers for Disease Control and Prevention designated these as Tier 1 conditions.

The health system developed a clinical genomic infrastructure to return results to participants whose DNA showed early indicators or risk factors of illness, most commonly types of cancer, high cholesterol, and heart disease. The DNA is sent to a separate lab to confirm the results before news is delivered to the individual. Since it’s a research program and not a clinical program, few participants receive results.

For now, the MyCode Community Health Initiative is the only one of its kind in the United States. Geisinger hopes to lay the groundwork for the rest of the world to improve health care through genomic testing.

The aims to:

  • Find and confirm new pathogenic (disease-causing) changes in genes
  • Identify changes in genes that could provide protection from disease
  • Develop new drugs
  • Update patient care using the research and findings

Although this is a research project, Geisinger made a commitment from the beginning to inform participants of variants that could cause diseases, giving people opportunities for early action. Barbara Barnes, one of the many participants, chose to have her reproductive organs removed based on the results of her genetic testing.

“If I had waited another year,” she said, “we would’ve had a totally different outcome. MyCode saved my life.”

The MyCode “DiscovEHR” Study was launched in 2014 with the Regeneron Genetics Center. Patient-participants consent to having their genomes read and analyzed for disease-causing variants to create a database for current and future research.

Through Geisinger’s partnership with the Regeneron Genetics Center, 92,815 exomes have been sequenced and made “research-ready.” An exome is the part of a genome made of exons, the coding segments in genes. Nearly 600 patient-participants have been contacted because of disease-causing genes found during the study.

“Each and every new participant allows us to perform research that will help us find new ways to anticipate or identify sometimes life-threatening medical conditions early and greatly improve health outcomes,” said David H. Ledbetter, Ph.D., Geisinger executive vice president and chief scientific officer.