Ethical Issues in Human Genome Epidemiology: A Case Study Based on the Japanese American Family Study
The rapid advances in genetics and molecular biology are dramatically increasing our ability to understand genetic susceptibility to disease and to develop targeted prevention strategies using genetic and molecular epidemiology approaches. The implementation of these human genome epidemiology studies, however, raises serious ethical concerns. This analysis used a “case study” approach to explore ethical issues in the context on the ongoing Japanese American Family Study in Seattle, a population-based study of extended kindreds of Japanese descent living in a Western Culture that is examining genetic influences on risk factors for cardiovascular disease and diabetes. Issues related to study design, protocol implementation, and reporting study results were considered. Study design issues include the advanatages and disadvantages of using a genetically homogeneous group for study. Selecting such a population may decrease genetic heterogeneity and increase the possibilty of detecting genetics effects. However the potential social effects of such findings, including stigmatizing the group under study, must be considered. Further, whether or not it is appropriate to obtain community consent remains a controversial issue. In implementing a community-based family study, maintaining the confidentially of study data is essential, especially for individuals within families. Avoiding coercion of family members can be difficult in certain cultural settings, and informed consent for DNA banking requires specific informed consent procedures. Once the study results are available, investigators must make difficult decisions about whether or not to provide genotyping results to study participants, and when to involve genetic counselors. Finally, publishing the study results that include pedigrees, while avoiding identifying family information, is challenging. Careful analysis of ethical issues in study design, protocol implementation, and reporting study results can provide useful guidance for the successful completion of human genome epidemiology studies.