The completion of the Human Genome Project in 2003 has catalysed innovations in scientific research and in healthcare embodied in the term “precision medicine.” Across the globe, many nations are investing in large-scale national sequencing programmes, resulting in millions of human genomes sequenced and linked to dense phenotypic and clinical data. The international scientific community is now beginning to articulate how best to use these data-rich resources to provide novel insights into the biology of disease, tools for the management of patients and population health management strategies.

The lecture will highlight challenges and potential solutions for sequencing programmes to optimise their impact on global health. In addition, it will focus on key strategies for the field, including implementation science, scalable data infrastructures and analyses required for impact on discovery and clinical care, and the value proposition for the investments that have been made in national programmes. Finally, it will describe the leading edge of clinical impact of genetic markers for disease risk prediction and prevention, tools for using family history more effectively, incorporating pharmacogenomic data into clinical care, refining disease diagnosis using sequence-based mutation discovery, and creating novel educational approaches to prepare the next generation of scientists and clinicians.