Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions.

Fatumo, Segun ORCID: 0000-0003-4525-3362, Sathan, Dassen, Samtal, Chaimae, Isewon, Itunuoluwa, Tamuhla, Tsaone, Soremekun, Chisom, Jafali, James, Panji, Sumir, Tiffin, Nicki and Fakim, Yasmina Jaufeerally (2023) Polygenic risk scores for disease risk prediction in Africa: current challenges and future directions. Genome medicine, 15 (1). 87-.

Access the full-text of this item by clicking on the Open Access link.

PDF
Polygenic risk scores for disease risk prediction in Africa current challenges and future directions.pdf - Open Access published version
Download (1MB) | Preview

Official URL: http://dx.doi.org/10.1186/s13073-023-01245-9

Abstract

Early identification of genetic risk factors for complex diseases can enable timely interventions and prevent serious outcomes, including mortality. While the genetics underlying many Mendelian diseases have been elucidated, it is harder to predict risk for complex diseases arising from the combined effects of many genetic variants with smaller individual effects on disease aetiology. Polygenic risk scores (PRS), which combine multiple contributing variants to predict disease risk, have the potential to influence the implementation for precision medicine. However, the majority of existing PRS were developed from European data with limited transferability to African populations. Notably, African populations have diverse genetic backgrounds, and a genomic architecture with smaller haplotype blocks compared to European genomes. Subsequently, growing evidence shows that using large-scale African ancestry cohorts as discovery for PRS development may generate more generalizable findings. Here, we (1) discuss the factors contributing to the poor transferability of PRS in African populations, (2) showcase the novel Africa genomic datasets for PRS development, (3) explore the potential clinical utility of PRS in African populations, and (4) provide insight into the future of PRS in Africa.

Item Type:	Article
Uncontrolled Keywords:	Humans, Genetic Predisposition to Disease, Risk Assessment, Risk Factors, Africa, Genome-Wide Association Study, Black People
Divisions:	Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Life Courses and Medical Sciences
Depositing User:	Symplectic Admin
Date Deposited:	21 Dec 2023 16:51
Last Modified:	21 Dec 2023 16:51
DOI:	10.1186/s13073-023-01245-9
Open Access URL:	https://doi.org/10.1186/s13073-023-01245-9
Related URLs:	Author Publisher
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3177604