TY - JOUR T1 - Precision Medicine Screening Using Whole Genome Sequencing and Advanced Imaging To Identify Disease Risk in Adults JF - bioRxiv DO - 10.1101/133538 SP - 133538 AU - Bradley A Perkins AU - C. Thomas Caskey AU - Pamila Brar AU - Eric Dec AU - David Karow AU - Andrew Kahn AU - Claire Hou AU - Naisha Shah AU - Debbie Boeldt AU - Erin Coughlin AU - Gabby Hands AU - Victor Lavrenko AU - James Yu AU - Andrea Procko AU - Julia Appis AU - Anders Dale AU - Lining Guo AU - Thomas J. Jönsson AU - Bryan M. Wittmann AU - Istvan Bartha AU - Smriti Ramakrishnan AU - Axel Bernal AU - James Brewer AU - Suzanne Brewerton AU - William H Biggs AU - Yaron Turpaz AU - Amalio Telenti AU - J Craig Venter Y1 - 2017/01/01 UR - http://biorxiv.org/content/early/2017/05/03/133538.abstract N2 - BACKGROUND Progress in science and technology have created the capabilities and alternatives to symptom-driven medical care. Reducing premature mortality associated with age-related chronic diseases, such as cancer and cardiovascular disease, is an urgent priority we address using advanced screening detection.METHODS We enrolled active adults for early detection of risk for age-related chronic disease associated with premature mortality. Whole genome sequencing together with: global metabolomics, 3D/4D imaging using non-contrast whole body magnetic resonance imaging and echocardiography, and 2-week cardiac monitoring were employed to detect age-related chronic diseases and risk for diseases.RESULTS We detected previously unrecognized age-related chronic diseases requiring prompt (<30 days) medical attention in 17 (8%, 1:12) of 209 study participants, including 4 participants with early stage neoplasms (2%, 1:50). Likely mechanistic genomic findings correlating with clinical data were identified in 52 participants (25%. 1:4). More than three-quarters of participants (n=164, 78%, 3:4) had evidence of age-related chronic diseases or associated risk factors.CONCLUSIONS Precision medicine screening using genomics with other advanced clinical data among active adults identified unsuspected disease risks for age-related chronic diseases associated with premature mortality. This technology-driven phenotype screening approach has the potential to extend healthy life among active adults through improved early detection and prevention of age-related chronic diseases. Our success provides a scalable strategy to move medical practice and discovery toward risk detection and disease modification thus achieving healthier extension of life.SIGNIFICANCE STATEMENT Advances in science and technology have enabled scientists to analyze the human genome cost-effectively and to combine genome sequencing with noninvasive imaging technologies for alternatives to symptom-driven medical care. Using whole genome sequencing and noninvasive 3D/4D imaging technologies we screened 209 adults to detect age-related chronic diseases, such as cancer and cardiovascular disease. We found unrecognized age-related chronic diseases requiring prompt (<30 days) medical attention in 1:12 study participants, likely genomic findings correlating with clinical data in 1:4 participants, and evidence of age-related chronic diseases or associated risk factors in more than 3 of 4 participants. These results demonstrate that genome sequencing with clinical imaging data can be used for screening and early detection of diseases associated with premature mortality. ER -