Science publishes paper on Geisinger, Regeneron DiscovEHR collaboration
Geisinger Health System and Regeneron announced that Science has published a paper describing how the DiscovEHR collaboration between Geisinger and the Regeneron Genetics Center is using the combination of large-scale sequencing and de-identified electronic health records for genomic medicine implementation and precision medicine applications in genomics-guided therapeutic discovery. The publication describes exome sequencing and analyses of the first 50,000 adult participants in the DiscovEHR study, one of the first and largest efforts of its kind. Genomic data from these patients, all members of the Geisinger MyCode Community Health Initiative, have been linked to corresponding de-identified electronic health records, enabling the discovery of clinical associations supporting new and existing therapeutic targets, including genes encoding drug targets for lipid lowering. In the DiscovEHR study, approximately 3.5% of individuals were found to have known or predicted deleterious genetic variants in one of 76 clinically actionable genes. While the data are completely de-identified to Regeneron, clinicians at Geisinger have begun returning this information to eligible patients as part of their clinical care, with some 200 patients already informed they carry one or more disease-causing genetic mutations with consequences that can be treated. These mutations are mainly related to cancer risk and cardiovascular illness. "This is an important step forward for precision medicine," said David J. Carey, Ph.D., professor and chair of molecular and functional genomics at Geisinger and co-author of the papers. "In addition to contributing to longer-term research that leads to new treatments, Geisinger aims to be on the forefront of integrating genetic data into patient care today. Through this collaboration, individuals participating in the Geisinger MyCode Community Health Initiative may benefit in the near-term by receiving information about their personal health," he said.