Science Publication Highlights the Precision Medicine Approach of the Regeneron Genetics Center and Geisinger Health System

Thursday, December 22, 2016

Source: PR NewsWire

Regeneron Pharmaceuticals, Inc. (NASDAQ: REGN) and Geisinger Health System (Geisinger) today announced that Science has published a paper describing how the DiscovEHR collaboration between the Regeneron Genetics Center (RGC) and Geisinger 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 this study, we found 176,000 genetic variants predicted to result in partial or complete loss of gene function, affecting over 90 percent of the genes in the human genome. Paired with de-identified electronic health records, this provides one of the richest resources available to study the effects of gene inactivation in humans," said Rick Dewey, M.D., Senior Director of Translational Genetics at the RGC and co-author of the paper. "Integrating genetic research to increase the efficiency and speed of drug development is the primary goal of the RGC and supports Regeneron's long-time mission of using the power of science to bring new medicines to patients, over and over again."

In the DiscovEHR study, approximately 3.5 percent of individuals were found to have known or predicted deleterious genetic variants in one of 76 clinically actionable genes (56 as defined by the American College of Medical Genetics and Genomics plus an additional 20 recommended by Geisinger). 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 nearly 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 paper. "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. 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."

Another RGC-Geisinger Science publication in the December 23 issue provides a case study for how genomic medicine can be implemented in clinical care by qualified healthcare providers such as Geisinger. By the processes described above, for example, the collaborators assessed the prevalence and clinical impact of genomic variants associated with Familial Hypercholesterolemia (FH), a genetic disease that remains underdiagnosed despite widespread cholesterol screening.

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