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

doi:10.1093/ije/dym159

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

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488 Scopus citations

Abstract

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 language	English (US)
Pages (from-to)	120-132
Number of pages	13
Journal	International journal of epidemiology
Volume	37
Issue number	1
DOIs	https://doi.org/10.1093/ije/dym159
State	Published - Feb 2008
Externally published	Yes

Keywords

Causality
Epidemiologic methods
Evidence
Genetics
Genomics

ASJC Scopus subject areas

Epidemiology

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10.1093/ije/dym159

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Ioannidis, J. P. A., Boffetta, P., Little, J., O'Brien, T. R., Uitterlinden, A. G., Vineis, P., Balding, D. J., Chokkalingam, A., Dolan, S. M., Flanders, W. D., Higgins, J. P. T., Mccarthy, M. I., McDermott, D. H., Page, G. P., Rebbeck, T. R., Seminara, D., & Khoury, M. J. (2008). Assessment of cumulative evidence on genetic associations: Interim guidelines. International journal of epidemiology, 37(1), 120-132. https://doi.org/10.1093/ije/dym159

Ioannidis, JPA, Boffetta, P, Little, J, O'Brien, TR, Uitterlinden, AG, Vineis, P, Balding, DJ, Chokkalingam, A, Dolan, SM, Flanders, WD, Higgins, JPT, Mccarthy, MI, McDermott, DH, Page, GP, Rebbeck, TR, Seminara, D & Khoury, MJ 2008, 'Assessment of cumulative evidence on genetic associations: Interim guidelines', International journal of epidemiology, vol. 37, no. 1, pp. 120-132. https://doi.org/10.1093/ije/dym159

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abstract = "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.",

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

note = "Funding Information: This work was partly supported by ECNIS (Environmental Cancer Risk, Nutrition and Individual Susceptibility), a network of excellence operating within the European Union 6th Framework Program (Contract No 513943). This research was also supported by the Intramural Research Program of the National Institutes of Health, National Cancer Institute, Division of Cancer Epidemiology and Genetics and National Institute of Allergy and Infectious Diseases, Laboratory of Molecular Immunology. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government.",

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AU - Khoury, Muin J.

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Assessment of cumulative evidence on genetic associations: Interim guidelines

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Keywords

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