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

Autor:	Perkins BA; Human Longevity, Inc., San Diego, CA 92121., Caskey CT; Human Longevity, Inc., San Diego, CA 92121; tcaskey@bcm.edu jcventer@humanlongevity.com.; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030., Brar P; Human Longevity, Inc., San Diego, CA 92121., Dec E; Human Longevity, Inc., San Diego, CA 92121., Karow DS; Human Longevity, Inc., San Diego, CA 92121.; Department of Radiology, University of California, San Diego School of Medicine, San Diego, CA 92093., Kahn AM; Human Longevity, Inc., San Diego, CA 92121.; Division of Cardiovascular Medicine, University of California, San Diego School of Medicine, San Diego, CA 92037., Hou YC; Human Longevity, Inc., San Diego, CA 92121., Shah N; Human Longevity, Inc., San Diego, CA 92121., Boeldt D; Human Longevity, Inc., San Diego, CA 92121.; Psychology and Neuroscience, University of Colorado, Boulder, CO 80309., Coughlin E; Human Longevity, Inc., San Diego, CA 92121., Hands G; Human Longevity, Inc., San Diego, CA 92121., Lavrenko V; Human Longevity, Inc., San Diego, CA 92121., Yu J; Human Longevity, Inc., San Diego, CA 92121., Procko A; Human Longevity, Inc., San Diego, CA 92121., Appis J; Human Longevity, Inc., San Diego, CA 92121., Dale AM; Department of Neurosciences, University of California, San Diego School of Medicine, San Diego, CA 92093.; Department of Radiology, University of California, San Diego School of Medicine, San Diego, CA 92093., Guo L; Metabolon, Morrisville, NC 27713., Jönsson TJ; Metabolon, Morrisville, NC 27713., Wittmann BM; Metabolon, Morrisville, NC 27713., Bartha I; Human Longevity, Inc., San Diego, CA 92121., Ramakrishnan S; Human Longevity, Inc., San Diego, CA 92121., Bernal A; Human Longevity, Inc., San Diego, CA 92121., Brewer JB; Human Longevity, Inc., San Diego, CA 92121.; Department of Neurosciences, University of California, San Diego School of Medicine, San Diego, CA 92093., Brewerton S; Human Longevity, Inc., San Diego, CA 92121., Biggs WH; Human Longevity, Inc., San Diego, CA 92121., Turpaz Y; Human Longevity, Inc., San Diego, CA 92121., Venter JC; Human Longevity, Inc., San Diego, CA 92121; tcaskey@bcm.edu jcventer@humanlongevity.com.; J. Craig Venter Research Institute, San Diego, CA 92037.
Jazyk:	angličtina
Zdroj:	Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2018 Apr 03; Vol. 115 (14), pp. 3686-3691. Date of Electronic Publication: 2018 Mar 19.
DOI:	10.1073/pnas.1706096114
Abstrakt:	Reducing premature mortality associated with age-related chronic diseases, such as cancer and cardiovascular disease, is an urgent priority. We report early results using genomics in combination with advanced imaging and other clinical testing to proactively screen for age-related chronic disease risk among adults. We enrolled active, symptom-free adults in a study of screening for age-related chronic diseases associated with premature mortality. In addition to personal and family medical history and other clinical testing, we obtained whole-genome sequencing (WGS), noncontrast whole-body MRI, dual-energy X-ray absorptiometry (DXA), global metabolomics, a new blood test for prediabetes (Quantose IR), echocardiography (ECHO), ECG, and cardiac rhythm monitoring to identify age-related chronic disease risks. Precision medicine screening using WGS and advanced imaging along with other testing among active, symptom-free adults identified a broad set of complementary age-related chronic disease risks associated with premature mortality and strengthened WGS variant interpretation. This and other similarly designed screening approaches anchored by WGS and advanced imaging may have the potential to extend healthy life among active adults through improved prevention and early detection of age-related chronic diseases (and their risk factors) associated with premature mortality. Competing Interests: Conflict of interest statement: Some authors are employees of Human Longevity, Inc. as indicated by institution affiliation, and the study was funded by Human Longevity, Inc. (Copyright © 2018 the Author(s). Published by PNAS.)
Databáze:	MEDLINE
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