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Proc Natl Acad Sci U S A. 2018 Apr 3;115(14):3686-3691. doi: 10.1073/pnas.1706096114. Epub 2018 Mar 19.

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

Author information

1
Human Longevity, Inc., San Diego, CA 92121.
2
Human Longevity, Inc., San Diego, CA 92121; tcaskey@bcm.edu jcventer@humanlongevity.com.
3
Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.
4
Department of Radiology, University of California, San Diego School of Medicine, San Diego, CA 92093.
5
Division of Cardiovascular Medicine, University of California, San Diego School of Medicine, San Diego, CA 92037.
6
Psychology and Neuroscience, University of Colorado, Boulder, CO 80309.
7
Department of Neurosciences, University of California, San Diego School of Medicine, San Diego, CA 92093.
8
Metabolon, Morrisville, NC 27713.
9
J. Craig Venter Research Institute, San Diego, CA 92037.

Abstract

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.

KEYWORDS:

genome; genomics; magnetic resonance imaging; precision medicine; screening

PMID:
29555771
PMCID:
PMC5889622
DOI:
10.1073/pnas.1706096114
[Indexed for MEDLINE]
Free PMC Article

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