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Proc Natl Acad Sci U S A ; 115(14): 3686-3691, 2018 04 03.
Article in English | MEDLINE | ID: mdl-29555771

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.


Subject(s)
Disease/genetics , Genetic Predisposition to Disease , Image Processing, Computer-Assisted/methods , Mutation , Precision Medicine/methods , Whole Genome Sequencing/methods , Adult , Aged , Aged, 80 and over , Cardiovascular Diseases/diagnostic imaging , Cardiovascular Diseases/genetics , Cardiovascular Diseases/pathology , Disease/classification , Female , High-Throughput Nucleotide Sequencing , Humans , Male , Middle Aged , Neoplasms/diagnostic imaging , Neoplasms/genetics , Neoplasms/pathology , Nervous System Diseases/diagnostic imaging , Nervous System Diseases/genetics , Nervous System Diseases/pathology , Risk Assessment , Sequence Analysis, RNA , Young Adult
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