Jonathan S. Berg, MD, PhD Bryson Distinguished Professor of Human Genetics Director, Program for Precision Medicine in Health Care System Medical Director for Genomic Medicine, UNC Health The University of North Carolina at Chapel Hill
Dr. Berg is a clinical geneticist and physician scientist at the University of North Carolina at Chapel Hill. He was active in clinical care in the area of cancer and adult genetics for 15 years and has now transitioned to broader roles at UNC, leading the Program for Precision Medicine in Health Care and recently taking a position within the UNC Health System where he will contribute to system-wide quality improvement and care redesign efforts related to genomic medicine.
Dr. Berg’s research efforts have centered on the application of genomic sequencing technologies in patient care, starting with early forays into exome/genome sequencing and delineating criteria for clinically actionable secondary findings. He has worked in the area of genomic population screening of unselected neonates and adults for over a decade, and now has an active research effort to explore the application of targeted genomic screening for rare monogenic conditions throughout childhood. This model, called Age-Based Genomic Screening (ABGS), is proposed as a way to connect genomic screening across the lifespan from neonates to infants, children, adolescents, and adults. Dr. Berg’s work in genomic screening includes developing metrics for measuring the performance of sequencing as a screening test (which is quite different than the diagnostic setting for patients with rare disease). Dr. Berg is also one of the founding Principal Investigators of the Clinical Genome Resource (“ClinGen”) in which his team has played a major role in developing methods for curating and defining gene-disease relationships and variant pathogenicity. In his role at UNC, Dr. Berg leads an effort to deploy genomic technology within the affiliated health system, including the Epic Genomics Module, interfaced genetic tests and structured results, and associated decision support tools. He is actively involved in developing virtual care programs such as genomic medicine eConsults; disseminating genetic testing capabilities; improving the identification, diagnosis and management of patients with rare and monogenic conditions across all disease areas; and ensuring that genomic and precision medicine approaches are accessible to patients throughout the state-wide footprint of the UNC Health System.