Beyond a Million Genomes

Keystone Symposia, Silverthorne CO

Investigators

Abstract

ABSTRACT Support is requested for a Keystone Symposia conference entitled Beyond a Million Genomes: From Discovery to Precision Health, organized by Drs. Alan R. Shuldiner, Dan Roden and Elaine R. Mardis. The conference will be held in Breckenridge, Colorado from January 21-25, 2020. With advances and decreasing costs of high-throughput genotyping and DNA sequencing technologies, we now know more about the human genome than that of any other species. Sequence variation, both common and rare, contribute to great inter-individual phenotypic variation within it. A deeper understanding of the genetic basis of human health and disease has provided insights into biology and huge opportunities for the development and implementation of more targeted therapies and preventive strategies, which is the goal of precision health. This Keystone Symposium will focus on rapidly advancing and emerging areas of precision health with each session emphasizing the path from discovery to clinical implementation. The Symposium will begin with the state of our current knowledge of the allelic architecture of human disease and how these understandings are being translated into clinical practice. Sessions will cover discovery and translational advances from Mendelian diseases and rare human gene knock-outs to common multifactorial diseases in large genomic databases linked to electronic health record data, and the challenges and opportunities of big data analysis and integration. Other topics will include translating cancer genomics to clinical practice, workshops on clinical interpretation of germline and somatic mutations, pharmacogenomics, and the role of human genomics for novel therapeutic development. Finally, a session will look beyond human sequence variation to consider the role of epigenomics, the microbiome, and environment and lifestyle in precision health. While broad-based, a unifying theme of this Symposium is to bridge basic human genomic discovery to clinical implementation with the intention of attracting and engaging a multidisciplinary audience for thoughtful and open discussion to impact Precision Health.