Importance of Including Non-European Populations in Large Human Genetic Studies to Enhance Precision Medicine

• Published in: Annual review of biomedical data science 2022-08, Vol.5 (1), p.321-339
• Main Authors: Ju, Dan, Hui, Daniel, Hammond, Dorothy A, Wonkam, Ambroise, Tishkoff, Sarah A
• Format: Article
• Language: English
• Subjects: Africa; diversity; Genetic Predisposition to Disease - genetics; Genome-Wide Association Study; Genotype; GWAS; Human Genetics; human genomics; Humans; polygenic risk score; Precision Medicine
• ISSN: 2574-3414; 2574-3414
• DOI: 10.1146/annurev-biodatasci-122220-112550

One goal of genomic medicine is to uncover an individual's genetic risk for disease, which generally requires data connecting genotype to phenotype, as done in genome-wide association studies (GWAS). While there may be clinical promise to employing prediction tools such as polygenic risk scores (PRS), it currently stands that individuals of non-European ancestry may not reap the benefits of genomic medicine because of underrepresentation in large-scale genetics studies. Here, we discuss why this inequity poses a problem for genomic medicine and the reasons for the low transferability of PRS across populations. We also survey the ancestry representation of published GWAS and investigate how estimates of ancestry diversity in GWASparticipants might be biased. We highlight the importance of expanding genetic research in Africa, one of the most underrepresented regions in human genomics research, and discuss issues of ethics, resources, and technology for equitable advancement of genomic medicine.