Assessment of cumulative evidence on genetic associations: interim guidelines

Int J Epidemiol. 2008 Feb;37(1):120-32. doi: 10.1093/ije/dym159. Epub 2007 Sep 26.


Established guidelines for causal inference in epidemiological studies may be inappropriate for genetic associations. A consensus process was used to develop guidance criteria for assessing cumulative epidemiologic evidence in genetic associations. A proposed semi-quantitative index assigns three levels for the amount of evidence, extent of replication, and protection from bias, and also generates a composite assessment of 'strong', 'moderate' or 'weak' epidemiological credibility. In addition, we discuss how additional input and guidance can be derived from biological data. Future empirical research and consensus development are needed to develop an integrated model for combining epidemiological and biological evidence in the rapidly evolving field of investigation of genetic factors.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Epidemiologic Studies*
  • Evaluation Studies as Topic
  • Evidence-Based Medicine
  • Female
  • Genetic Carrier Screening
  • Genetic Heterogeneity*
  • Genetic Predisposition to Disease / epidemiology*
  • Guidelines as Topic*
  • Humans
  • Male
  • Sensitivity and Specificity