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Julian P. T. Higgins, Julian Little, John P. A. Ioannidis, Molly S. Bray, Teri A. Manolio, Liam Smeeth, Jonathan A. Sterne, Betsy Anagnostelis, Adam S. Butterworth, John Danesh, Carol Dezateux, John E. Gallacher, Marta Gwinn, Sarah J. Lewis, Cosetta Minelli, Paul D. Pharoah, Georgia Salanti, Simon Sanderson, Lesley A. Smith, Emanuela Taioli, John R. Thompson, Simon G. Thompson, Neil Walker, Ron L. Zimmern, Muin J. Khoury, Turning the Pump Handle: Evolving Methods for Integrating the Evidence on Gene-Disease Association, American Journal of Epidemiology, Volume 166, Issue 8, 15 October 2007, Pages 863–866, https://doi.org/10.1093/aje/kwm248
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Recent findings from genome-wide association studies have demonstrated their considerable potential for identifying genetic determinants of common diseases of public health significance such as cancer, heart disease, and diabetes (1), but they have also highlighted the continued importance of targeted genotyping to replicate genome-wide association findings (2). Approaches to the integration of evidence in human genome epidemiology have evolved rapidly in the last few years. The combination of results from multiple studies, often known as meta-analysis, has a key role both in enhancing power and in characterizing relative risks (3). As evidence accumulates on genetic variants that confer identifiable effects on disease susceptibility, so does the need to summarize the evidence in digestible and accessible formats. Here, we describe how the Human Genome Epidemiology Network (HuGENet) is keeping abreast of developments in methods for collating and synthesizing the evidence.
HuGENet was established in 1998 to integrate epidemiologic evidence on the role of genetics in human health and disease, and to develop an online searchable, updated, knowledge base (4). HuGENet's main activities are compilation and evaluation of epidemiologic research, facilitating of collaborations, training and technical assistance, and information exchange through the World Wide Web. A “road map” for human genome epidemiology outlines a vision for the future of this important field (5), and activities of the network are now facilitated by four coordinating centers in Atlanta, Georgia (6); Cambridge, United Kingdom (7); Ottawa, Canada (8); and Ioannina, Greece (9).
