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JAMA Insights
Genomics and Precision Health
April 10, 2018

Sequencing of Tumor DNA to Guide Cancer Risk Assessment and Therapy

Author Affiliations
  • 1Section of Stem Cell Biology, Division of Oncology, Department of Medicine, The McDonnell Genome Institute, Washington University School of Medicine, St Louis, Missouri
JAMA. 2018;319(14):1497-1498. doi:10.1001/jama.2018.2281

Treatment responses and clinical outcomes in cancer patients are highly variable and are often hard to predict at the time of presentation. Sequencing of tumor DNA is increasingly being used for identifying tumor-associated somatic mutations that can inform risk stratification or therapy selection and/or serve as molecular markers for disease monitoring. Molecular biomarkers identified by sequencing can include specific gene mutations or tumor phenotypes that predict treatment response, such as microsatellite instability or an increased tumor mutation burden, both of which predict responses for immune checkpoint blockade therapies.1 A variety of clinical sequencing assays are now widely available for mutational profiling of clinical tumor specimens. However, substantial differences exist in how tumor sequence data are generated and analyzed, which determines the types of information that can be obtained from these tests and the degree to which they influence medical decision making for individual patients.