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JNCI Monographs 1999 1999(26):71-80;
© 1999 by Oxford University Press
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Journal of the National Cancer Institute Monographs, No. 26, 71-80, 1999
© 1999 Oxford University Press

III. INTEGRATION PANEL

Integrated Designs for Gene Discovery and Characterization

Lue Ping Zhao, Corinne Aragaki, Li Hsu, John Potter, Robert Elston, Kathleen E. Malone, Janet R. Daling, Ross Prentice

Affiliations of authors: L. P. Zhao, C. Aragaki, L. Hsu, J. Potter, K. E. Malone, J. R. Daling, R. Prentice, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA; R. Elston, Department of Epidemiology and Biostatistics, School of Medicine, Case Western Reserve University, Cleveland, OH.

Correspondence to: Lue Ping Zhao, Ph.D., Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave., N, MW-806, Seattle, WA 98109.

Recent advances, including near completion of the human genome map, ever improving high-throughput technologies, and successes in discovering chronic disease-related genes, have stimulated the further development of genetic epidemiology. The primary mission of genetic epidemiology is to discover and characterize genes, whether independent of or interactive with environmental factors, that cause human diseases. To accomplish such a mission, genetic epidemiology needs to integrate both genetic and epidemiologic approaches. One of the challenges facing such an integrated approach is the identification of study designs that are efficient for both gene discovery and characterization. Because designs for gene discovery alone and designs for gene characterization alone have been elaborated in the other two panels, the focus of this paper is to describe those designs that may be useful for discovery and characterization jointly, including case-family and case-control-family designs. Examples of integrated designs are described, and studies of breast cancer conducted at the Fred Hutchinson Cancer Research Center are used for illustration. Finally, related analytic issues are also discussed.


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