The Role of Informatics in the Implementation of Population Precision Health

Abstract: Precision health is an emerging concept in healthcare. Coupled with the movement towards Learning Healthcare Systems, there is an opportunity to transform how care and prevention are imagined. To realize this vision requires collection and analysis of large amounts of disparate data, development of knowledge from the data, and seamless ways to deliver the knowledge back to clinicians and, increasingly, patients. Informatics is expected to play a key role in precision health. In this presentation, Dr. Williams will provide some background and philosophy on different terms in current use, will introduce Geisinger’s MyCode Community Health Initiative—the largest implemented population health research project in the United States, discuss the informatic initiatives necessary to support the project, and identify key gaps and research questions that will need to be addressed to make precision health a reality.



Marc S. Williams, MD, FAAP, FACMG, FACMI is a clinical geneticist. He is the director of Geisinger’s Genomic Medicine Institute.  He is the co-PI of the Geisinger eMERGE project and is the medical director of the whole genome sequencing clinical research project. He is site PI and leads the EHR workgroup of the NHGRI funded ClinGen project. He is on the NHGRI Genomic Medicine working group. He has participated in the Personalized Medicine Workgroup of the Department of Health and Human Services’ American Health Information Community Task Force and was a member of the Secretary’s Advisory Committee for Genetics, Health and Society. He is a member of the EGAPP working group. He is a member of the American College of Medical Genetics and Genomics (ACMG) Board of Directors, serving as Vice-President for Clinical Genetics and rejoins the board as president-elect in 2019. He is past chair of the ACMG Committee on the Economics of Genetic Services and founded the ACMG Quality Improvement Special Interest Group. He is a member of the Scientific Advisory Board of the Clinical Pharmacogenetic Implementation Consortium and a member of the CPIC informatics committee. He recently joined the Scientific Advisory Boards of the NIH Undiagnosed Diseases Project, and Online Mendelian Inheritance in Man. He has authored over 160 articles on a variety of topics including the economic evaluation and value of genetic services, implementation of genomic medicine, and the use of informatics to facilitate genomic medicine.