Strengthening the reporting of genetic association studies (STREGA)

23 February 2009

Seven high-profile biomedical journals have this month published recommendations for the reporting of genetic association studies framed within a statement and checklist. Entitled STrengthening the REporting of Genetic Association studies, STREGA is an extension of the STROBE statement (STrengthening the REporting of OBservational studies in Epidemiology) published back in 2007 [Von Elm et al. (2007) PLoS Med 4(10):e296 ; Vandenbroucke et al. (2007) PLoS Med 2007 4(10):e297].

A tremendous increase in the volume of published literature addressing gene-disease associations over the past decade - along with inadequate reporting of study methods and results - has led to increasing difficulties in assessing the strengths and weaknesses of this rapidly evolving evidence base. This in turn has hampered researchers in their attempts to identify methodological biases in these studies and their synthesis together with existing research and the interpretation of this knowledge. Motivated by these difficulties, a multidisciplinary workshop took place in Ottawa, Canada in June 2006 using the experiences of the human genome epidemiology network (HuGENet) and the work conducted by the working group on STROBE. This workshop brought together approximately thirty epidemiologists, geneticists, statisticians and journal editors with the objective of providing guidance built on the STROBE statement for reporting the results of studies of gene-disease associations.

Using the same outline as the STROBE report, STREGA introduces concepts that are of particular interest in genetic association studies such as genotyping error, population stratification, modelling haplotype variation, Hardy-Weinberg equilibrium, and replication. Additional items also include information on the selection of participants, the rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods used, relatedness of study participants, reporting of descriptive and outcome data, and the volume of data. The STREGA report also presents evidence-based rationale for the inclusion of these topics into the guidelines along with specific suggestions for reporting. It is hoped that these recommendations will encourage greater transparency in the reporting of genetic association studies which will lead to greater facilitation of evidence synthesis leading to greater understanding of the role of genetic factors in disease causation. The STREGA workshop report and recommendations are available at www.strega-statement.org.

STREGA co-author Dr Julian Higgins of the MRC Biostatistics Unit in Cambridge commented, “The simultaneous publication of the STREGA recommendations by seven diverse journals highlights the recognised need for improved reporting of genetic association studies. By encouraging authors to think about how to report what they have done, we hope ultimately to ensure that the underlying research is performed to the highest epidemiological and genetic standards”.

List of Journals co-publishing the STREGA report:

  • Annals of Internal Medicine
  • European Journal of Epidemiology
  • European Journal of Clinical Investigation
  • Genetic Epidemiology
  • Human Genetics
  • Journal of Clinical Epidemiology
  • PLoS Medicine

More from us

Genomics and policy news