The evaluation of genetic tests

J Public Health (Oxf). 2007 Sep;29(3):246-50. doi: 10.1093/pubmed/fdm028. Epub 2007 May 24.


Scientific advances in genetics and molecular biology have been very successful in advancing our knowledge of biological mechanisms in health and disease, and in catalysing a variety of technological innovations. The number of genetic tests available has consequently increased exponentially over the last few years. Their development has not been accompanied by processes and systems to evaluate these tests in a proper and formal manner to establish their clinical validity and utility. A framework for the evaluation of genetic tests has been developed. This paper reviews the current practice of genetic test evaluation, highlighting the limitations and future challenges in this area of public health.

Publication types

  • Evaluation Study
  • Review

MeSH terms

  • Genetic Markers*
  • Genetic Predisposition to Disease
  • Genetic Testing / ethics
  • Genetic Testing / legislation & jurisprudence
  • Genetic Testing / standards*
  • Genetics / trends
  • Humans
  • Marketing
  • Molecular Biology / trends
  • Predictive Value of Tests
  • Public Health / trends*
  • Reproducibility of Results


  • Genetic Markers