IJE Advance Access originally published online on August 19, 2004
International Journal of Epidemiology 2004 33(5):936-944; doi:10.1093/ije/dyh278
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IJE vol.33 no.5 © International Epidemiological Association 2004; all rights reserved.
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The emergence of epidemiology in the genomics age
1 Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
2 Department of Epidemiology, University of North Carolina School of Public Health, Chapel Hill, North Carolina, USA
3 Epidemiology Group, Department of Medicine and Therapeutics, University of Aberdeen, Aberdeen, Scotland
Correspondence: Dr M Khoury. Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, 1600 Clifton Road, Mailstop E82, Atlanta, Georgia, USA 30333. E-mail: mkhoury@cdc.gov
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‘As genomics and epidemiology begin to intersect, there is the potential for both fields to be altered in ways that are mutually beneficial’ (R Millikan1)
While observational epidemiology is considered to be the scientific foundation of public health2 it is often viewed as a ‘soft science’ limited by an inherent inability to fully control for confounding, misclassification, and selection bias.3 Enter the ‘genomics era’.4,5 With the completion of the Human Genome Project, and the eventual identification of thousands of human genetic variants, scientists are predicting that the use of personalized genomic information will revolutionize the future practice of medicine6 and public health.7 In this paper, we discuss the emerging role of epidemiology in the genomics era. In particular, we show how synergistic interaction between genomics and epidemiology is not only mutually beneficial but crucial to the optimal development of each field in the 21st century. Our thesis is twofold:
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The impact of epidemiology on genomics |
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Vision of genomics research in the 21st century
The need for a ‘public health’ research strategy in genomics
The emergence of human genome epidemiology
Population-based gene discovery and characterization
Epidemiology and genomic tests
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The impact of genomics on epidemiology |
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Emergence of large population cohort studies
Emergence of novel epidemiological study designs: the case-only method
Epidemiology and the problem of complexity
Emerging statistical approaches to complexity
Emergence of Mendelian randomization as a tool for epidemiological inference on environmental risk factors
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Concluding remarks |
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