Prioritizing diversity in human genomics research

Abstract

Recent studies have highlighted the imperatives of including diverse and under-represented individuals in human genomics research and the striking gaps in attaining that inclusion. With its multidecade experience in supporting research and policy efforts in human genomics, the National Human Genome Research Institute is committed to establishing foundational approaches to study the role of genomic variation in health and disease that include diverse populations. Large-scale efforts to understand biology and health have yielded key scientific findings, lessons and recommendations on how to increase diversity in genomic research studies and the genomic research workforce. Increased attention to diversity will increase the accuracy, utility and acceptability of using genomic information for clinical care.

Figure 1. Shared genomic variation across global populations.

Greater than ~70% of the genomic variation in sampled populations is shared across multiple continents. The area of each pie is proportional to the number of polymorphisms within a population. Pies are divided into four slices, representing variants private to a population (darker colour unique to population), private to a continental area (lighter colour shared across continental group), shared across continental areas (light grey) and shared across all continents (dark grey). Colour families approximate continental origin (red, ancestry from the Americas; orange/yellow, African ancestry; blue, European ancestry; purple, South Asian ancestry; green, East Asian ancestry). Dashed lines indicate populations sampled outside their ancestral continental region. ACB, Barbadian; ASW, African Americans in south-west USA; BEB, Bengali; CDX, Dai Chinese; CEU, Utah residents with northern and western European ancestry; CHB, Han Chinese; CHS, southern Han Chinese; CLM, Colombian; ESN, Esan; FIN, Finnish; GBR, British; GIH, Gujarati; GWD, Gambian; IBS, Spanish; ITU, Telugu; JPT, Japanese; KHV, Kinh Vietnamese; LWK, Luhya; MSL, Mende; MXL, Mexican American; PEL, Peruvian; PJL, Punjabi; PUR, Puerto Rican; STU, Tamil; TSI, Tuscan; YRI, Yoruba. Adapted with permission from REF. 6, Macmillan Publishers Limited.