Division of Nephrology, Boston University School of Medicine, Boston, MA.
Division of Molecular Medicine, Department of Pediatrics, University of São Paulo School of Medicine, São Paulo, Brazil.
Semin Nephrol. 2022 Sep;42(5):151314. doi: 10.1016/j.semnephrol.2023.151314. Epub 2023 Feb 17.
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.
在过去的 20 年中,肾脏基因组学的进步为更精确的肾脏疾病诊断和新的、特定治疗药物的鉴定打开了大门。尽管取得了这些进展,但在世界范围内,资源丰富地区和资源匮乏地区之间仍然存在不平衡。来自美国、英国和冰岛的欧洲血统个体仅占世界人口的 16%,但却占全基因组关联研究的 80%以上。南亚、东南亚、拉丁美洲和非洲加起来占世界人口的 57%,但全基因组关联研究却不到 5%。这种差异的影响包括新变异的发现受限、对非欧洲人群中遗传变异影响的不准确解释,以及在资源匮乏地区获得基因组检测和新型疗法的机会不平等。它还进一步引入了伦理、法律和社会陷阱,最终可能会导致全球健康不平等。减少资源匮乏地区不平衡的持续努力包括提供资金和能力建设、基于人群的基因组测序、基于人群的基因组登记册以及遗传研究网络。资源匮乏地区需要更多的资金、培训和能力建设,以加强基础设施和专业知识。专注于这一点将确保基因组研究和技术投资获得多倍回报。