Public health infrastructure: A valuable resource for human genetic epidemiology

Increasingly rapid, reliable, and affordable technology for specimen banking and analysis has enhanced opportunities for human genetic research within the public health setting. Existing public health infrastructure is an untapped resource for genetic research, especially for exploring gene-environment interactions. We reviewed 50 research protocols active as of October 2009 that are approved by the Centers for Disease Control and Prevention (CDC) IRB. The protocols describe research involving the collection of human genetic material either for direct analysis or for future storage and testing. We extracted information regarding research topics, study design, location, genotyping and sampling methods, recruitment sources, and environmental factors studied. Eleven of 50 studies (22%) recruited participants from an existing surveillance database and 12 studies recruited from an active or previously-conducted cohort study. Participants in 11 additional studies were recruited from the community, through advertisements or house visits, or from a specific group (e.g., factory workers). The remaining 16 studies recruited participants from hospitals or clinics. The protocols address a wide range of study topics, including occupational conditions (9 studies), HIV/AIDS (7 studies), adverse events following vaccinations (7 studies), and birth- and development-related conditions (5 studies), as well as drug treatment trials, cancer screening, and others. The studies aim to elucidate the roles of genetic and modifiable (environmental) disease risk factors. With large-scale genetic analysis now within reach, public health research infrastructure offers a valuable resource for population-level studies of human genes and gene-environment interactions.