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Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults.
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.
Afiliación
  • Perkins BA; Human Longevity, Inc., San Diego, CA 92121.
  • Caskey CT; Human Longevity, Inc., San Diego, CA 92121; tcaskey@bcm.edu jcventer@humanlongevity.com.
  • Brar P; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.
  • Dec E; Human Longevity, Inc., San Diego, CA 92121.
  • Karow DS; Human Longevity, Inc., San Diego, CA 92121.
  • Kahn AM; Human Longevity, Inc., San Diego, CA 92121.
  • Hou YC; Department of Radiology, University of California, San Diego School of Medicine, San Diego, CA 92093.
  • Shah N; Human Longevity, Inc., San Diego, CA 92121.
  • Boeldt D; Division of Cardiovascular Medicine, University of California, San Diego School of Medicine, San Diego, CA 92037.
  • 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; Psychology and Neuroscience, University of Colorado, Boulder, CO 80309.
  • Procko A; Human Longevity, Inc., San Diego, CA 92121.
  • Appis J; Human Longevity, Inc., San Diego, CA 92121.
  • Dale AM; Human Longevity, Inc., San Diego, CA 92121.
  • Guo L; Human Longevity, Inc., San Diego, CA 92121.
  • Jönsson TJ; Human Longevity, Inc., San Diego, CA 92121.
  • Wittmann BM; Human Longevity, Inc., San Diego, CA 92121.
  • Bartha I; Department of Neurosciences, University of California, San Diego School of Medicine, San Diego, CA 92093.
  • Ramakrishnan S; Department of Radiology, University of California, San Diego School of Medicine, San Diego, CA 92093.
  • Bernal A; Metabolon, Morrisville, NC 27713.
  • Brewer JB; Metabolon, Morrisville, NC 27713.
  • Brewerton S; Metabolon, Morrisville, NC 27713.
  • 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.
Proc Natl Acad Sci U S A ; 115(14): 3686-3691, 2018 04 03.
Article en En | MEDLINE | ID: mdl-29555771
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Procesamiento de Imagen Asistido por Computador / Enfermedad / Predisposición Genética a la Enfermedad / Medicina de Precisión / Secuenciación Completa del Genoma / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2018 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Procesamiento de Imagen Asistido por Computador / Enfermedad / Predisposición Genética a la Enfermedad / Medicina de Precisión / Secuenciación Completa del Genoma / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2018 Tipo del documento: Article