Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults

The Proceedings of the National Academy of Sciences (PNAS), a peer-reviewed journal of the National Academy of Sciences (NAS), is an authoritative source of high-impact, original research that broadly spans the biological, physical, and social sciences. The journal is global in scope and submission is open to all researchers worldwide.

RESEARCH ARTICLE MARCH 19, 2018 | https://doi.org/10.1073/pnas.1706096114

Bradley A. Perkins, C. Thomas Caskey , Pamila Brar, and J. Craig Venter

Contributed by C. Thomas Caskey, August 9, 2017 (sent for review April 12, 2017; reviewed by Atul J. Butte and Ralph Snyderman)

Significance

Advances in technology are enabling evaluation for prevention and early detection of age-related chronic diseases associated with premature mortality, such as cancer and cardiovascular diseases. These diseases kill about one-third of men and one-quarter of women between the ages of 50 and 74 years old in the United States. We used whole-genome sequencing, advanced imaging, and other clinical testing to screen 209 active, symptom-free adults. We identified a broad set of complementary age-related chronic disease risks associated with premature mortality.