HomeAbout NHGRIAbout the Office of the DirectorOffice of Population GenomicsOPG: Past Meetings and Workshops Designing Geneticists: Study Design Issues in Population-based Genetics and Genomics Research

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.

Presentation Slides

Presentation PowerPoints Introduction Emily L. Harris, Ph.D., M.P.H. Population Genomics National Human Genome Research Institute View Slides Case-Control and Cohort Study Designs Moyses Szklo, M.D., M.P.H., Dr.P.H. Department of Epidemiology Bloomberg School of Public Health View Slides Maximizing Internal and External Validity in Epidemiology Studies Robert Hoover, M.D., Sc.D. Division of Cancer Epidemiology and Genetics National Cancer Institute View Slides Evaluating Potential Bias in and Interpreting Results from Epidemiologic Designs Teri Manolio, M.D., Ph.D. Population Genomics National Human Genome Research Institute View Slides Evaluating Potential Bias in and Interpreting Results from Epidemiologic Designs Ellen Wijsman, Ph.D. Division of Medical Genetics and Department of Biostatistics University of Washington View Slides Questions and Answers Emily L. Harris, Ph.D., M.P.H. Population Genomics National Human Genome Research Institute View Slides

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Last Reviewed: October 15, 2008