Population Biobanks and Access

Abstract

Genetic research gained a new momentum with the completion of the Human Genome Project in 2003. Formerly entered on the investigation of single-genes research, genetics now targets the whole genome, its environment and the impact on genomic variation. Indeed, increasing our understanding of common disease risk and human health, population genomics draws on basic data on genomic variation and on lifestyle behaviours and environmental factors. But, the study of normal genomic variation across whole populations requires the collection of data and biological samples from individuals on a longitudinal scale. Consequently, in Canada and the rest of the world, large-scale biobanking initiatives have emerged. As for the participants in these population biobanks, they provide DNA and personal information with no individual benefit and are followed up over time through recontact and access to administrative health record systems. The benefits are systemic: better disease/health research, targeted drug delivery and improved health care programs based on an understanding of the role of the environment in the expression of genetic risk factors. However, achieving these goals requires statistical power and, in order to do so, sharing data across studies and countries is crucial. This chapter will first examine, from an international perspective, how the importance of access is reflected in different national legislation and international guidelines. Secondly, taking the example of CARTaGENE, a Quebec population biobank, we will demonstrate how the novel and complex nature of population longitudinal studies is interacting with the ethics governance surrounding access and how this uneasy, but nonetheless mandatory, relationship can sometimes risk defeating the very purpose of a resource, facilitating good science.

Keywords: Population Biobanks, Genome, Data Collection, Samples, Access, CARTaGENE, Sharing data across studies and countries