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

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


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.

MeSH terms

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