What is public health genomics and why should we care

Advances in genomics have led to mounting expectations in regard to their impact on health care and disease prevention. A comprehensive translation agenda is needed to move human genome discoveries into population health in a way that maximizes health benefits and minimizes harm to individuals and populations. This is the domain of “public health genomics.” In this talk, I present a framework, with examples, for the continuum of multidisciplinary translation efforts in genomics. The continuum includes 4 phases of translation and translation research that revolve around the development of evidence-based guidelines. Phase 1 translation (T1) seeks to move a basic genome-based discovery into a candidate health application (e.g., genetic test/intervention). Phase 2 translation (T2) assesses the value of a genomic application for health practice leading to the development of evidence-based guidelines. Phase 3 translation (T3) attempts to move evidence-based guidelines into health practice, through delivery, dissemination, and diffusion research. Phase 4 translation (T4) seeks to evaluate the “real world” health outcomes of a genomic application in practice. With continued advances in genomic applications, a strong medicine-public health partnership is needed to explore the full continuum of translation needed to realize the promise of genomics for population health.