David H. Ledbetter, PhD, FACMG
Executive Vice President & Chief Scientific Officer
Geisinger Health
Geisinger’s Genomics & Precision Health Initiative
Geisinger began a biobanking and genomics research project in 2007, which has now consented over 220,000 participants who provide permission to use their longitudinal electronic health data and their genomics information for broad research purposes. We entered a collaboration with the Regeneron Genetics Center in 2014 to perform exome sequencing on 250,000 Geisinger participants. We have thus far completed the sequencing and analysis of >92,000. Using the ACMG guidelines for reporting of incidental findings from exome sequencing, ~1,000 participants have received clinical confirmation, clinical genetics test results, and genetic counseling for a number of highly penetrant, autosomal dominant conditions with medical actionability to reduce risk of potentially life-threatening conditions (e.g., BRCA1/2 risk of early-onset breast or ovarian cancer). Based on very strong, positive response not only by our patient participants and their family members, but also by our primary care physicians, we have transitioned our exome sequencing from a research framework to routine clinical care by offering clinical sequencing to currently healthy adults in selected primary care sites. Now, large-scale genomics data is generated as a by-product of routine care and can be matched with comprehensive EHR and other clinical data for research purposes in a Learning Health system model. Given the success of moving genomics to routine care, we are now evaluating the need for continuation of the traditional biobank and research framework for genomics research.
