One Million Genomes: From Discovery to Health

Keystone Symposia, Silverthorne CO

Investigators

Abstract

ABSTRACT Support is requested for a Keystone Symposia conference entitled One Million Genomes: From Discovery to Health, organized by Drs. Geoffrey S. Ginsburg, Teri Manolio and Patrick Boon Ooi Tan. The conference will be held June 4 -8, 2018 at the Herrenhausen Palace in Hannover, Germany. The completion of the Human Genome Project in 2003 has catalyzed innovations in scientific research and in health care embodied in the term ?precision medicine.? Across the globe, many nations are investing in large- scale national sequencing cohort programs, resulting in over one million human genomes sequenced and linked to dense phenotypic and clinical data. This Keystone Symposia conference will bring together scientists and leaders from healthcare and industry to discuss how to maximize the value of that investment for human health. It will assemble a unique and highly interdisciplinary international community 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 meeting will highlight challenges and potential solutions for germ-line and somatic sequencing programs and make recommendations for optimizing their impact on global health. The crucial role of free and open sharing and exchange of human variation data from these programs in allowing all of them to interpret novel variants and use them in clinical care will be emphasized. The meeting will focus on various scientific challenges for the field, including implementation science, the 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 programs. The leading edge of clinical impact of clinical sequencing with will be highlighted in sessions on pharmacogenomics, and on developing novel therapeutics.