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HuGENet™ Workshops

HuGENet™ STrengthening the REporting of Genetic Associations (STREGA): an international HuGE workshop held in Ottawa, Canada, June 15-16, 2006

    The synthesis of knowledge is crucial to the evidence-based integration of human genomics into the practice of population and public health and medicine in the 21st century (1,2). The number of papers on gene-disease associations has increased tremendously, and this trend is expected to accelerate because of the availability of mapped single nucleotide polymorphism markers and advances in genotyping technologies. However, the current situation is plagued with problems (3-5), including the prevalence of small underpowered studies, often with flawed designs, suboptimal conduct and biased analyses; selective reporting of “positive” results; lack of standardization among studies; and poor reporting of results even from well-conducted studies (6).  Evidence-based guidance on the reporting of studies will greatly facilitate both the synthesis of evidence and investigation of the effects of study design and conduct on study results. This approach was applied to the development of the CONSORT guidance for reporting clinical trials (7,8), and has been effective (9).

    The workshop built on the experience of the Human Genome Epidemiology Network (HuGENet™), and on the work done by the Working Group on STrengthening the Reporting of OBservational studies in Epidemiology (STROBE). HuGENet™ is a global initiative committed to the development and integration of the knowledge base on human genetic variants & health ( The STROBE statement ( under development is specifically focused on cross- sectional, case control and cohort studies and deals primarily with environmental exposures. The unique contribution of the workshop was the focus on gene-disease association studies.

    The purpose of the workshop was to develop evidence-based guidelines to promote clear reporting of genetic association studies, and reduce gaps in the evidence regarding potential methodological biases in such studies. A group of around thirty epidemiologists, geneticists, statisticians and journal editors participated in the workshop. An initial set of guidelines was agreed and will be refined over the coming months by workshop participants and the broader community of researchers, journal editors and stakeholders interested in developing evidence-based policy.

    Later this year, the draft guidelines will be posted on the Canadian HuGE Net Co-ordinating Centre Web site (, and comments solicited. These will be used to refine the draft statement and associated explanation and elaboration. Building on experience with CONSORT (7,8) and related statements, we anticipate that a brief summary of the guidelines will be published, together with an explanatory article. Subsequently, we plan to evaluate the impact of the guidelines by carrying out a systematic review comparing quality of reporting before and after the dissemination of the guidelines, as has recently been done for CONSORT (9).


    1. Khoury MJ, Millikan R, Little J, Gwinn M. The emergence of epidemiology in the genomics age. International Journal of Epidemiology 2004; 33: 936-944.
    2. Genomics, Health and Society Working Group. Genomics, Health and Society. Emerging Issues for Public Policy. Ottawa: Government of Canada Policy Research Initiative, 2004.
    3. Little J, Khoury MJ, Bradley L, Clyne M, Gwinn M , Lin B. et al. The human genome project is complete. How do we develop a handle for the pump?  Am. J. Epidemiol. 2003; 157: 667-673.
    4. Ioannidis JP, Bernstein J, Boffetta P, Danesh J, Dolan S, Hartge P,  et al. A network of investigator networks in human genome epidemiology.  Am. J. Epidemiol. 2005; 162: 302-304. 
    5. Ioannidis JP, Gwinn ML, Little J, Higgins JP, Bernstein JL, Boffetta P et al. A roadmap for efficient and reliable human genome epidemiology. Nature Genetics 2006; 38: 3-5.
    6. von Elm, E. & Egger, M. The scandal of poor epidemiological research. BMJ 2004;329: 868-869.
    7. Moher D, Schultz KF, Altman D. The CONSORT statement: revised recommendations for improving the quality of reports of parallel-group randomized trials. JAMA 2001; 285:1987-1991.
    8. Altman DG, Schulz KF, Moher D, Egger M, Davidoff F, Elbourne D, et al. The revised CONSORT statement for reporting randomized trials: explanation and elaboration. Annals of Internal Medicine 2001; 134: 663-694.
    9. Plint A, Moher D, Altman DG, Schulz KF, Morrison A. Does the CONSORT checklist improve the quality of reports of randomized controlled trials? A systematic review. Presented as an oral presentation at the 5th International Congress on Peer Review and Biomedical Communication, Chicago, September 2005.



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