Evaluating the promise of inclusion of African ancestry populations in genomics

Abstract

The lack of representation of diverse ancestral backgrounds in genomic research is well-known, and the resultant scientific and ethical limitations are becoming increasingly appreciated. The paucity of data on individuals with African ancestry is especially noteworthy as Africa is the birthplace of modern humans and harbors the greatest genetic diversity. It is expected that greater representation of those with African ancestry in genomic research will bring novel insights into human biology, and lead to improvements in clinical care and improved understanding of health disparities. Now that major efforts have been undertaken to address this failing, is there evidence of these anticipated advances? Here, we evaluate the promise of including diverse individuals in genomic research in the context of recent literature on individuals of African ancestry. In addition, we discuss progress and achievements on related technological challenges and diversity among scientists conducting genomic research.

Keywords: Genome-wide association studies; Personalized medicine.

Fig. 1. Inclusion of AFR in genomic research: notable initiatives.

Data for figures taken from the following sources: TOPMed, PAGE II, Million Veteran Program (MVP), CHARGE Gene–Lifestyle Interactions (GLI), Cardiovascular H3Africa Innovation Resource (CHAIR), CAAPA, NeuroGAP-Psychosis, All of Us, and the GWAS Catalog.

Fig. 2. Prediction accuracy relative to European-ancestry individuals across 17 quantitative traits and 5 continental populations in the UKBB: All phenotypes shown here are quantitative anthropometric and blood-panel traits.

Prediction target individuals do not overlap with the discovery cohort and are unrelated. Violin plots show distributions of relative prediction accuracies, points show mean values, and error bars show s.e.m. values. [Reprinted by permission from Springer Nature Customer Service Centre GmbH: Springer Nature, Nature Genetics, “Clinical use of current polygenic risk scores may exacerbate health disparities”, Alicia R. Martin et al.].