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Precision medicinescreening usingwhole-genomesequencing andadvanced imaging toidentify disease riskin adults Bradley A. PerkinsC. Thomas CaskeyPamila Brar2018 год

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

Полный текстСтраница публикацииПубликация в OpenAlex
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.
Год издания: 2018
Авторы: Bradley A. Perkins, C. Thomas Caskey, Pamila Brar, Eric Dec, David S. Karow, Andrew M. Kahn, Ying‐Chen Claire Hou, Naisha Shah, Debbie Boeldt, Erin Coughlin, Gabby Hands, Victor Lavrenko, Hung‐Chun Yu, Andrea Procko, Julia Appis, Anders M. Dale, Lining Guo, Thomas J. Jönsson, Bryan M. Wittmann, István Bartha, Smriti Ramakrishnan, Axel Bernal, James B. Brewer, Suzanne Brewerton, William Biggs, Yaron Turpaz, J. Craig Venter
Издательство: National Academy of Sciences
Источник: Proceedings of the National Academy of Sciences
Ключевые слова: Genomics and Rare Diseases, Genetic Associations and Epidemiology, Cancer Genomics and Diagnostics
Другие ссылки: Proceedings of the National Academy of Sciences (PDF)
Proceedings of the National Academy of Sciences (HTML)
Europe PMC (PubMed Central) (PDF)
Europe PMC (PubMed Central) (HTML)
eScholarship (California Digital Library) (PDF)
eScholarship (California Digital Library) (HTML)
PubMed Central (HTML)
bioRxiv (Cold Spring Harbor Laboratory) (HTML)
PubMed (HTML)