A roadmap to increase diversity in genomic studies

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. As a result, the potential benefits of genomic research-including better understanding of disease etiology, early detection and diagnosis, rational drug design and improved clinical care-may elude the many underrepresented populations. Here, we describe factors that have contributed to the imbalance in representation of different populations and, 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. Our Perspective highlights the importance of sincere, concerted global efforts toward genomic equity to ensure the benefits of genomic medicine are accessible to all.

Figure 1. The proportion of samples from individuals cumulatively reported by GWAS Catalog as of July 8, 2021.

Figure 2

Disparity in representations of continents will increase in the next few years without immediate measures to increase diversity in genomic studies. Upcoming large-scale (>100 K participant) cohort-based studies included within the IHCC was employed as an indicator of the representation of various continents in genomics research over the next few years. (a) Number of enrolled participants from each geographic region (b) Number of cohorts from each geographic region. The estimates are based on cohorts that are collecting or aim to collect genomic data (https://ihccglobal.org/membercohorts/).

Figure 3. Roadmap showing the key pillars for setting up and sustaining diverse global genomic studies.