Evaluation of genetic tests for susceptibility to common complex diseases: why, when and how?

Hum Genet. 2010 Feb;127(2):125-34. doi: 10.1007/s00439-009-0767-x. Epub 2009 Nov 20.


Recent research into the human genome has generated a wealth of scientific knowledge and increased both public and professional interest in the concept of personalised medicine. Somewhat unexpectedly, in addition to increasing our understanding about the genetic basis for numerous diseases, these new discoveries have also spawned a burgeoning new industry of 'consumer genetic testing'. In this paper, we present the principles learnt though the evaluation of tests for single gene disorders and suggest a comparable framework for the evaluation of genetic tests for susceptibility to common complex diseases. Both physicians and the general public will need to be able to assess the claims made by providers of genetic testing services, and ultimately policy-makers will need to decide if and when such tests should be offered through state funded healthcare systems.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Predisposition to Disease / genetics*
  • Genetic Privacy / ethics
  • Genetic Privacy / legislation & jurisprudence
  • Genetic Testing / ethics
  • Genetic Testing / legislation & jurisprudence
  • Genetic Testing / methods*
  • Government Regulation
  • Humans
  • Informed Consent
  • Physician-Patient Relations
  • United Kingdom
  • United States