Genetics of Chronic Kidney Disease in Low-Resource Settings

Abstract

Advances in kidney genomics in the past 20 years has opened the door for more precise diagnosis of kidney disease and identification of new and specific therapeutic agents. Despite these advances, an imbalance exists between low-resource and affluent regions of the world. Individuals of European ancestry from the United States, United Kingdom, and Iceland account for 16% of the world's population, but represent more than 80% of all genome-wide association studies. South Asia, Southeast Asia, Latin America, and Africa together account for 57% of the world population but less than 5% of genome-wide association studies. Implications of this difference include limitations in new variant discovery, inaccurate interpretation of the effect of genetic variants in non-European populations, and unequal access to genomic testing and novel therapies in resource-poor regions. It also further introduces ethical, legal, and social pitfalls, and ultimately may propagate global health inequities. Ongoing efforts to reduce the imbalance in low-resource regions include funding and capacity building, population-based genome sequencing, population-based genome registries, and genetic research networks. More funding, training, and capacity building for infrastructure and expertise is needed in resource-poor regions. Focusing on this will ensure multiple-fold returns on investments in genomic research and technology.

Keywords: APOL1; Africa; CKD; Latin America; South Asia; Southeast Asia; genetic testing; genetics; genomic resources imbalance.

Figure 1:. Publicly available next generation sequencing by ancestries.

Publicly available next generation sequencing by African, East Asian, European and South Asian Ancestries (red bar). Blue bar represent the proportion of each ancestries as a percentage of the world population.

Figure 2:. Proportion of continental population and kidney related GWAS studies in the NHGRI catalogue.

Figure 2 shows the proportion of the continental population and kidney related GWAS studies across Africa (0%), Southeast Asia (0%), Latin America (0%), South Asia (0%), Europe (37.5%), North America (37.5%), and East Asia (25%). Green dots represents percentage of World population, Red dots represent percentage of reported GWAS.

Figure 3:

Case Study of genetic testing in an African with Focal Segmental Glomerulosclerosis.