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.