Diversity in Genomic Studies: A Roadmap to Address the Imbalance

Abstract

Two decades ago, the sequence of the first human genome was published. Since then, advances in genome technologies have resulted in whole genome sequencing and microarray-based genotyping of millions of human genomes. However, genetic and genomic studies are predominantly based on populations of European ancestry. This implies that the benefits of genomic research, including improving clinical care, understanding disease aetiology, early detection of diseases, better diagnosis, and rational drug design, may elude those underrepresented populations. Here, we describe factors that have contributed to the imbalance in representation of different populations. Leveraging our experiences in setting up genomic studies in diverse global populations, we propose a roadmap to enhancing inclusion and ensuring equal health benefits of genomics advances. This proposal highlights the importance of sincere concerted global efforts towards genomic equity to achieve the benefits of genomic medicine to all.