Human Genetics

, Volume 127, Issue 2, pp 125–134 | Cite as

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

Review Article


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.



The authors with to thank Ron Zimmern for helpful discussions through which many of the concepts in this paper were developed. CW is funded by the PHG Foundation, which is the working name of the Foundation for Genomics and Population Health, a charitable company registered in England and Wales: Charity No 118664, Company No 5823194. MK is funded by the UK Genetic Testing Network.


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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.PHG FoundationCambridgeUK

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