HuGE Reviews

Systematic review and synthesis of research findings is a crucial component of human genome epidemiology. A HuGE Review identifies human genetic variants at one or more loci; summarizes what is known about the frequency of these variants in different populations; and describes associations of these variants with disease, as well as their interactions with other known risk factors.
HuGE Reviews are distinguished by several key characteristics. In particular, they:

1. Describe population-based data, typically collected in case-control or cohort studies.
2. Use a systematic search strategy to identify relevant data.
3. Employ statistical methods, such as meta-analysis, to integrate results from multiple studies.
4. Assess cumulative evidence for epidemiologic credibility.
5. Present genetic research findings in a population context.
6. Highlight knowledge gaps to stimulate useful research.

A HuGE Review provides a starting point for analyzing the clinical validity of a genetic test based on evidence from genetic association studies.

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Guidelines for writing a HuGE review

HuGENet published the HuGENet™ Handbook of Systematic Reviews [PDF 166KB] in March 2006. Authors should also apply the Venice guidelines [PDF 116KB] to rate the credibility of cumulative evidence.

Publishing a HuGE review

The journals listed below will consider well conducted HuGE Reviews for publication. Authors should indicate that the manuscript is a HuGE Review when submitting it to a journal. Submissions should comply with the journal instructions to authors.

The following journals will consider HuGE Reviews for publication:

• American Journal of Epidemiology
  Human genome epidemiologic reviews: the beginning of something HuGE
  Khoury MJ, Little J.American Journal of Epidemiology 2000; 151:2-3

• American Journal of Obstetrics and Gynecology
  The integration of genomics into obstetrics and gynecology: A HuGE challenge
  Khoury MJ, Romero R. American Journal of Obstetrics and Gynecology 2006; 195:1503-5

• Archives of Dermatology
  Dermatology and the human genome: an epidemiologic approach.
  Gwinn M, Khoury MJ. Archives of Dermatology 2007 Sep;143(9):1194-6.

• Cancer Epidemiology Biomarkers & Prevention
  Genetic association studies of cancer: where do we go from here?
  Rebbeck TR, Khoury MJ, Potter JD. Cancer Epidemiology Biomarkers and Prevention 2007;16(5):864-5

• Gastroenterology
  HuGE reviews and meta-analysis of gene association studies
  El–Serag H, Associate Editor, Khoury MJ, Centers for Disease Control and Prevention and Lewis JD, Associate Editor Gastroenterology 2007; 132(3):839-840

• Genetics in Medicine
  Human Genome Epidemiology (HuGE): translating advances in human genetics into population-based data for medicine and public health [PDF 142 KB]
  Khoury MJ. Genetics in Medicine 1999; 1:71-73

• International Journal of Epidemiology
  Make it HuGE: human genome epidemiology reviews, population health, and the IJE
  Smith GD, Gwinn M, Ebrahim S, Palmer LJ, Khoury MJ. International Journal of Epidemiology 2006; 35(3):507-510

• Paediatric and Perinatal Epidemiology
  The integration of genomics into paediatric and perinatal epidemiology: guidelines for submitting human genome epidemiology (HuGE) reviews.
  Khoury MJ. Paediatric and Perinatal Epidemiology 2005 May;19(3):178-80.