Technologies such as next-generation sequencing and chromosomal microarray have advanced the understanding of the molecular pathogenesis of a variety of renal disorders. Genetic findings are increasingly used to inform the clinical management of many nephropathies, enabling targeted disease surveillance, choice of therapy, and family counselling. Genetic analysis has excellent diagnostic utility in paediatric nephrology, as illustrated by sequencing studies of patients with congenital anomalies of the kidney and urinary tract and steroid-resistant nephrotic syndrome. Although additional investigation is needed, pilot studies suggest that genetic testing can also provide similar diagnostic insight among adult patients. Reaching a genetic diagnosis first involves choosing the appropriate testing modality, as guided by the clinical presentation of the patient and the number of potential genes associated with the suspected nephropathy. Genome-wide sequencing increases diagnostic sensitivity relative to targeted panels, but holds the challenges of identifying causal variants in the vast amount of data generated and interpreting secondary findings. In order to realize the promise of genomic medicine for kidney disease, many technical, logistical, and ethical questions that accompany the implementation of genetic testing in nephrology must be addressed. The creation of evidence-based guidelines for the utilization and implementation of genetic testing in nephrology will help to translate genetic knowledge into improved clinical outcomes for patients with kidney disease.

下一代测序和染色体微阵列等技术促进了对各种肾脏疾病分子发病机制的理解。遗传学发现越来越多地用于为许多肾病的临床管理提供信息，从而实现有针对性的疾病监测、治疗选择和家庭咨询。对先天性肾脏和泌尿道异常以及类固醇抵抗性肾病综合征患者的测序研究表明，遗传分析在儿科肾脏病学中具有出色的诊断效用。尽管还需要进行额外的调查，但试点研究表明基因检测也可以在成年患者中提供类似的诊断见解。进行基因诊断首先需要根据患者的临床表现以及与疑似肾病相关的潜在基因数量来选择适当的检测方式。全基因组测序相对于靶向组提高了诊断灵敏度，但在识别生成的大量数据中的因果变异和解释次要发现方面面临着挑战。为了实现基因组医学治疗肾脏疾病的前景，必须解决与肾脏病学基因检测实施相关的许多技术、后勤和伦理问题。为肾脏病学中基因检测的利用和实施制定循证指南将有助于将遗传知识转化为改善肾病患者的临床结果。