Assessment of cumulative evidence on genetic associations: Interim guidelines

John P.A. Ioannidis, Paolo Boffetta, Julian Little, Thomas R. O'Brien, Andre G. Uitterlinden, Paolo Vineis, David J. Balding, Anand Chokkalingam, Siobhan M. Dolan, W. Dana Flanders, Julian P.T. Higgins, Mark I. Mccarthy, David H. McDermott, Grier P. Page, Timothy R. Rebbeck, Daniela Seminara, Muin J. Khoury

Research output: Contribution to journalArticlepeer-review

507 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)120-132
Number of pages13
JournalInternational journal of epidemiology
Issue number1
StatePublished - Feb 2008


  • Causality
  • Epidemiologic methods
  • Evidence
  • Genetics
  • Genomics

ASJC Scopus subject areas

  • Epidemiology


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