Whole-genome resequencing in pharmacogenomics: moving away from past disparities to globally representative applications

Abstract

Africa suffers from a high burden of disease; nonetheless, it has been one of the most under-represented continents with regard to genomic research. It can be argued that this disproportionate research is related to the fact that the genome architecture of African individuals is poorly suited to SNP-based genome-wide association studies, given existing genotyping platforms. However, this argument is no longer plausible with the arrival of next-generation sequencing technologies, which allow for the analysis of entire genomes. Using pharmacogenes to critically examine the merit of next-generation sequencing technologies in pharmacogenomics, we found a substantial amount of novel/uncharacterized variation, which was predicted to alter protein function. This variation was predominantly observed in African individuals, emphasizing the benefit of next-generation sequencing technologies specifically for these individuals. We also observed an improvement in the reliability of sequencing technologies in a relatively short time. Therefore, as sequencing technologies develop and decrease in cost, the ability to reliably detect variation will improve and these technologies will begin to replace other less comprehensive genotyping assays.