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

Family , Population and Preventative Medicine

University of Ioannina
Foundation for Research and Technology-Hellas
Tufts University
University of Ottawa
National Institutes of Health
Erasmus University Rotterdam
Imperial College London
University of California at Berkeley
Albert Einstein College of Medicine
Emory University
University of Cambridge
University of Oxford
University of Alabama at Birmingham
University of Pennsylvania
Centers for Disease Control and Prevention

Research output: Contribution to journal › Article › peer-review

529 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
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

Keywords

Causality
Epidemiologic methods
Evidence
Genetics
Genomics

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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

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title = "Assessment of cumulative evidence on genetic associations: Interim guidelines",

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.",

keywords = "Causality, Epidemiologic methods, Evidence, Genetics, Genomics",

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.\}",

year = "2008",

month = feb,

doi = "10.1093/ije/dym159",

language = "English",

volume = "37",

pages = "120--132",

journal = "International Journal of Epidemiology",

issn = "0300-5771",

number = "1",

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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

TY - JOUR

T1 - Assessment of cumulative evidence on genetic associations

T2 - Interim guidelines

AU - Ioannidis, John P.A.

AU - Boffetta, Paolo

AU - Little, Julian

AU - O'Brien, Thomas R.

AU - Uitterlinden, Andre G.

AU - Vineis, Paolo

AU - Balding, David J.

AU - Chokkalingam, Anand

AU - Dolan, Siobhan M.

AU - Flanders, W. Dana

AU - Higgins, Julian P.T.

AU - Mccarthy, Mark I.

AU - McDermott, David H.

AU - Page, Grier P.

AU - Rebbeck, Timothy R.

AU - Seminara, Daniela

AU - Khoury, Muin J.

PY - 2008/2

Y1 - 2008/2

N2 - 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.

AB - 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.

KW - Causality

KW - Epidemiologic methods

KW - Evidence

KW - Genetics

KW - Genomics

UR - https://www.scopus.com/pages/publications/38949094880

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AN - SCOPUS:38949094880

SN - 0300-5771

VL - 37

SP - 120

EP - 132

JO - International Journal of Epidemiology

JF - International Journal of Epidemiology

IS - 1

ER -

Assessment of cumulative evidence on genetic associations: Interim guidelines

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