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JNCI Monographs 1999 1999(26):61-69;
© 1999 by Oxford University Press
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Journal of the National Cancer Institute Monographs, No. 26, 61-69, 1999
© 1999 Oxford University Press

III. INTEGRATION PANEL

Study Design in Genetic Epidemiology: Theoretical and Practical Considerations

Alice S. Whittemore, Lorene M. Nelson

Affiliation of authors: Department of Health Research and Policy, Stanford University School of Medicine, CA.

Correspondence to: Alice S. Whittemore, Ph.D., Department of Health Research and Policy, HRP Redwood Bldg., Rm. T204, Stanford University School of Medicine, Stanford CA 94305-5405 (e-mail: alicesw{at}leland.stanford.edu).

Recent advances in molecular genetics have created new opportunities and challenges for genetic epidemiologists. Here we review some of the issues that arise when designing a study involving the genetic epidemiology of chronic diseases of late onset, such as cancer. We discuss two considerations that influence the choice of design. The first consideration is the study's goals. We describe the goals of identifying new susceptibility genes for a disease, of estimating important characteristics of known genes, and of learning how to prevent the disease in the genetically susceptible. We indicate how these goals affect the choice of design and present some guidelines for choosing designs that effectively address them. The second consideration is the set of practical constraints to successfully conducting the research. These contraints include problems of potential selection bias, reduced response rates, problems particular to family registries, problems particular to the cultures of various ethnic groups, and ethical issues. We indicate how these constraints affect the choice of design and discuss ways to deal with them.


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