Trained in human genetics, Dr. Willard has focused his research, educational, and leadership interests at the crossroads of basic genetics and genome biology and their impact on society and the practice of medicine. His research group's efforts on the function of the human genome led to the identification of the XIST non-coding RNA gene that controls X chromosome inactivation and to the genomic definition of human centromeres, comprised of complex repetitive DNA sequences that form specialized heterochromatin underlying chromosome segregation in mitosis and meiosis. He has led complex interdisciplinary units that combined both basic genetics and medical genetics at major universities and hospitals and, at various institutions, started new degree programs in genetics/genomics, genetic counseling, bioinformatics, and genome policy. He is co-author of the textbook Genetics in Medicine, and co-editor of the Genomic and Precision Medicine book series. He is an elected member of the National Academy of Sciences, the National Academy of Medicine, and the American Academy of Arts & Sciences. Prior to coming to Geisinger full-time, he was chair of the Geisinger Scientific Advisory Board from 2011-2017.
Genomics is at an inflection point. Dramatic declines in sequencing costs and significant advances in our understanding of the genome means we’re moving closer to a world where genomics is the standard of care. Evidence is emerging that population-level screening drives meaningful clinical impact with ~1 in 30 people having an actionable result, but up to 90% of them are missed under current guidelines. Leading health systems are working to solve this by offering broad genetic screening to their communities. But questions remain about how to handle results when millions of people are screened. The tools and services to enable this are critical, including patient- and physician-friendly results, educational materials, and genetic counseling. In this session, healthcare leaders will discuss how they scale return of results and improve outcomes for their communities.