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

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...

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Bibliographic Details
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
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Summary: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.
ISSN:2574-3414
2574-3414
DOI:10.1146/annurev-biodatasci-122220-112550