Proceedings of the National Academy of Sciences of the United States of America · 2018
Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.
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Perkins Bradley A, Caskey C Thomas, Brar Pamila, Dec Eric, Karow David S, Kahn Andrew M, Hou Ying-Chen Claire, Shah Naisha, Boeldt Debbie, Coughlin Erin, Hands Gabby, Lavrenko Victor, Yu James, Procko Andrea, Appis Julia, Dale Anders M, Guo Lining, Jönsson Thomas J, Wittmann Bryan M, Bartha Istvan, Ramakrishnan Smriti, Bernal Axel, Brewer James B, Brewerton Suzanne, Biggs William H, Turpaz Yaron, Venter J Craig
Аннотация
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.
Предметные рубрики MeSH
AdultAgedAged, 80 and overCardiovascular DiseasesDiseaseFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansImage Processing, Computer-AssistedMaleMiddle AgedMutationNeoplasmsNervous System DiseasesPrecision MedicineRisk AssessmentSequence Analysis, RNAWhole Genome SequencingYoung Adult