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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 publication

DOI

10.1093/ije/dym159

Type

Journal article

Journal

Int J Epidemiol

Publication Date

02/2008

Volume

37

Pages

120 - 132

Keywords

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