The lack of diversity in genetic studies is problematic for a variety of ethical and scientific reasons. Continued reliance on samples that only represent a fraction of genomic, socio-cultural, and environmental diversity limits our understanding of disease biology and may ultimately contribute to widening global health disparities. Greater ancestral diversity in study samples has the potential to accelerate the discovery of causal risk variants and is critical for a greater understanding of the biological causes of disease, including gene-by-environment interactions. In this Primer, we have highlighted the challenges and benefits of working with diverse populations, recommended practices based on current methods, and have noted specific areas that are in need of further methodological development (Box 3). In summarizing progress, remaining challenges, and requisite next steps, we consider three main domains: 1) researcher participation, 2) data resources, and 3) analytic methods.
