Biobanks and biobank harmonisation

Abstract

Over the past decade and a half, genetic epidemiology has experienced an important shift from family-based studies of genetic linkage to individual-based studies of genetic association (Chapters One-Four). In part, this follows the recognition that if the 'common disease, common variant hypothesis'1-5 is true for at least a proportion of important genetic determinants of complex disease, these determinants - which will predominantly exhibit weak aetiological effects6 - will be identified more easily using association studies of population-based samples7. The shift to using association studies has been accompanied by an increasing methodological focus on optimal approaches to the design, analysis, meta-analysis and reporting of genetic association studies8-15; 65-67 (www.cdc.gov/genomics/ hugenet/strega.htm). This chapter describes these changes, and the growing international focus on biobanks with which they are associated.