Last updated: June 18, 2010
Designing Geneticists: Study Design Issues in Population-Based
Genetics and Genomics Research
American Society of Human Genetics 2007
San Diego, Calif.
October 23-27, 2007
Moderator: Emily L. Harris
National Human Genome Research Institute
Study design is a critical aspect of any research project. The study's purpose drives study design, influenced by practical issues. Genetic/genomic research increasingly uses population-based designs, such as case-control, genome-wide association studies, to study genetic susceptibility to common conditions and genetic influences on quantitative traits. Epidemiologic studies of such conditions now commonly include DNA collection and genetic information as part of the analyses. To effectively design and interpret such studies, knowledge of basic study design is critical as is an understanding of complications that genetic data introduce into such studies.
Crucial design decisions include case or outcome definition, control or comparison group definition, measurement methods and statistical analysis approach. Internal validity is imperative, and methods for assessing potential biases desirable. These presentations discuss basic study design choices and rationale; designs to maximize internal validity and external validity; gene-environment interaction; and how to look for and minimize bias.