Personalized medicine using DNA biomarkers: a review

Hum Genet. 2012 Oct;131(10):1627-38. doi: 10.1007/s00439-012-1188-9. Epub 2012 Jul 1.


Biomarkers are of increasing importance for personalized medicine, with applications including diagnosis, prognosis, and selection of targeted therapies. Their use is extremely diverse, ranging from pharmacodynamics to treatment monitoring. Following a concise review of terminology, we provide examples and current applications of three broad categories of biomarkers-DNA biomarkers, DNA tumor biomarkers, and other general biomarkers. We outline clinical trial phases for identifying and validating diagnostic and prognostic biomarkers. Predictive biomarkers, more generally termed companion diagnostic tests predict treatment response in terms of efficacy and/or safety. We consider suitability of clinical trial designs for predictive biomarkers, including a detailed discussion of validation study designs, with emphasis on interpretation of study results. We specifically discuss the interpretability of treatment effects if a large set of DNA biomarker profiles is available and the number of therapies is identical to the number of different profiles.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers*
  • Biomarkers, Tumor / genetics
  • DNA*
  • Humans
  • Precision Medicine*
  • Prognosis
  • Reproducibility of Results
  • Research Design


  • Biomarkers
  • Biomarkers, Tumor
  • DNA