Design, Implementation, and Management of Biobank Studies

Abstract

Prospective biobank studies are required for reliable assessment of the importance of both genetic and non-genetic causes of disease and their complex interplay in disease aetiology. Unlike case–control studies involving cases of particular diseases, prospective studies typically include healthy individuals recruited from the general population, with their health status monitored for several years or decades in order to identify a sufficient number of incident cases to reliably assess their associations with particular risk exposures. However, because only a small proportion of the study participants will develop any particular disease each year, such studies typically need to include several hundreds of thousands of participants and to continue follow-up for an extended duration in order to accrue sufficient numbers of diseased cases for reliable analyses. Hence, meticulous planning and preparation are needed to ensure that the appropriate scientific, organisational, and ethical frameworks are in place before establishing such biobank studies. This chapter addresses the basic principles and practical issues that should be considered in planning, designing, and conducting large-scale population-based prospective biobank studies including the collection and storage of biological samples. The general principles and approaches required for such studies are also applicable to other studies in different settings or using different designs (e.g., cross-sectional surveys and case–control studies).