Assessment of cumulative evidence on genetic associations: interim guidelines.
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.
Ioannidis
John P A
JP
Clinical and Molecular Epidemiology Unit, University of Ioannina School of Medicine, Ioannina 45110, Greece. jioannid@cc.uoi.gr
Boffetta
Paolo
P
Little
Julian
J
O'Brien
Thomas R
TR
Uitterlinden
Andre G
AG
Vineis
Paolo
P
Balding
David J
DJ
Chokkalingam
Anand
A
Dolan
Siobhan M
SM
Flanders
W Dana
WD
Higgins
Julian P T
JP
McCarthy
Mark I
MI
McDermott
David H
DH
Page
Grier P
GP
Rebbeck
Timothy R
TR
Seminara
Daniela
D
Khoury
Muin J
MJ
D016021:Epidemiologic Studies; D005069:Evaluation Studies as Topic; D019317:Evidence-Based Medicine; D005260:Female; D006580:Genetic Carrier Screening; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D017408:Guidelines as Topic; D006801:Humans; D008297:Male; D012680:Sensitivity and Specificity