African Americans have a 2- to 4-fold greater incidence of end-stage kidney disease (ESKD) than whites, which has long raised the possibility of a genetic cause for this disparity. Recent advances in genetic studies have shown a causal association of polymorphisms at the apolipoprotein L1 gene (APOL1) with the markedly increased risk for the nondiabetic component of the overall disparity in ESKD in African Americans. Although APOL1-associated kidney disease is thought to account for a substantial proportion of ESKD in African Americans, not all the increased risk for ESKD is accounted for, and a complete cataloging of disparities in genetic causes of ESKD eludes our current understanding of genetic-associated kidney disease. Genetic testing aids the screening, diagnosis, prognosis, and treatment of diseases with a genetic basis. Widespread use of genetic testing in clinical practice is limited by the small number of actionable genetic variants, limited health literacy of providers and patients, and underlying complex ethical, legal, and social issues. This perspective reviews racial and ethnic differences associated with genetic diseases and the development of ESKD in African Americans and discusses potential uncertainties associated with our current understanding of penetrance of genetically linked kidney disease and population-attributable risk percent.

非裔美国人的终末期肾病 (ESKD) 发病率是白人的 2 至 4 倍，长期以来，这一直提出这种差异可能是由遗传因素造成的。遗传学研究的最新进展表明，载脂蛋白 L1 基因 ( APOL1 ) 的多态性与非裔美国人 ESKD 整体差异中非糖尿病成分的风险显着增加存在因果关系。尽管APOL1相关肾病被认为是非裔美国人中 ESKD 的很大一部分原因，但并不能解释所有 ESKD 风险增加，并且对 ESKD 遗传原因差异的完整分类无法满足我们目前对遗传相关性的理解。肾脏疾病。基因检测有助于对具有遗传基础的疾病进行筛查、诊断、预后和治疗。基因检测在临床实践中的广泛使用受到可操作基因变异数量较少、提供者和患者的健康素养有限以及潜在的复杂伦理、法律和社会问题的限制。该观点回顾了与遗传病相关的种族和民族差异以及非裔美国人中 ESKD 的发展，并讨论了与我们目前对遗传性肾病外显率和人群归因风险百分比的理解相关的潜在不确定性。