Abstract

Genomic medicine has the potential to contribute to the development of an array of novel technologies within the clinical armoury, making possible early detection and management of high-risk conditions such as cancer. While significant impact has already been felt in the context of rare inherited single gene disorders, much of the advancement in patient care through genomic medicine more broadly is going to be made possible by research involving large data sets that enable analyses of multiple genetic variants that contribute to risk of common diseases. 1 As well as informing diagnosis and treatment of these diseases, these advances will support prediction and prevention. Considering risk prediction, combining data from multiple variants can produce a polygenic (or integrated) score (PGS/IGS). This will provide more accurate prediction than simply relying on environmental risk factors. While still in their early stages of development and implementation, it is clear that translation...