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Friday, October 6 • 2:15pm - 3:00pm
Utilizing Electronic Health Record for Genetic Research

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Geisinger Health system (GHS) is an integrated health care provider located in central and northeastern PA with an established electronic health record (EHR) that captures a median of 14 years of health data. The Geisinger MyCode® initiative started in 2007 as a system-wide biobanking program. Through a collaboration with the Regeneron Genetic Center (the Geisinger-Regeneron DiscovEHR collaboration,) whole exome sequence and genome wide genotype data is available from more than 90,000 MyCode® participants. The integration of genomic and EHR data provides an ideal platform for precision health. Analysis from 50,000 sequenced participants identified more than 4 million rare single nucleotide variants and insertion-deletion events, of which over 176,000 are predicted to result in loss of gene function.

To promote collaboration, we developed an open-access DiscovEHR web browser accessable through discovehrshare.com.  In this browser, variant frequency data is made publicly available to enable allele frequency comparisons with other population-based and biobank resources. In 2015 the MyCode DNA repository became CLIA certified, thus allowing samples to be used for clinical testing. We have also deposited CLIA-confirmed rare variants with clinical relevance from our “Geisinger-76” based on the ACMG 56 genes with additional 20 genes selected by Geisinger as clinically actionable. To date, 4.4% of MyCode participants harbor deleterious variants in these 76 genes and we have begun to return the results to more than 180 of our patients. In conclusion, The GHS MyCode project has created a unique biorepository that enables precision medicine research. For this presentation, I will also present some of the projects currently ongoing in my lab.

avatar for Mike Lee, PhD

Mike Lee, PhD

Assoc. Professor & Director, Geisinger Biobank

Friday October 6, 2017 2:15pm - 3:00pm
Room 6 Optum, 13625 Technology Drive, Eden Prairie, MN, United States