Genetic epidemiology with a capital "E".

Abstract

Three characteristics of genetic epidemiology that distinguish it from its parent disciplines are a focus on population-based research, a focus on the joint effects of genes and the environment, and the incorporation of the underlying biology of the disease into its conceptual models. These principles are illustrated by a review of the genetic epidemiology of breast and ovarian cancer. Descriptive and mechanistic models for the joint effects of genes and "environmental" risk factors such as hormones and reproductive events are compared to illustrate the need to understand the biology. The contribution of population-based research to the development of the evidence for the involvement of major genes, the discovery of BRCA1 and BRCA2, and their characterization is reviewed. Interactions of major susceptibility genes, metabolic genes, and hormones are also discussed. I conclude with some suggestions for future directions for the field, the journal, and the Society, including recent bioethics initiatives. I believe that the Society should reach out more to the epidemiology community and that the journal should shift its emphasis from pure methodology to also include more substantive papers that illustrate these principles.