Division of Nephrology and Center for Precision Medicine and Genomics, Department of Medicine, Columbia University, New York, New York.
Department of Pediatrics, Universita' degli Studi di Torino, Torino, Italy.
Clin J Am Soc Nephrol. 2020 Oct 7;15(10):1497-1510. doi: 10.2215/CJN.15141219. Epub 2020 Jul 9.
Expanded accessibility of genetic sequencing technologies, such as chromosomal microarray and massively parallel sequencing approaches, is changing the management of hereditary kidney diseases. Genetic causes account for a substantial proportion of pediatric kidney disease cases, and with increased utilization of diagnostic genetic testing in nephrology, they are now also detected at appreciable frequencies in adult populations. Establishing a molecular diagnosis can have many potential benefits for patient care, such as guiding treatment, familial testing, and providing deeper insights on the molecular pathogenesis of kidney diseases. Today, with wider clinical use of genetic testing as part of the diagnostic evaluation, nephrologists have the challenging task of selecting the most suitable genetic test for each patient, and then applying the results into the appropriate clinical contexts. This review is intended to familiarize nephrologists with the various technical, logistical, and ethical considerations accompanying the increasing utilization of genetic testing in nephrology care.
遗传测序技术(如染色体微阵列和大规模平行测序方法)的广泛应用正在改变遗传性肾脏疾病的治疗方法。遗传因素在儿科肾脏疾病病例中占很大比例,随着肾脏病学中诊断性基因检测的应用增加,它们在成年人群中也以相当高的频率被检测到。确定分子诊断可为患者治疗带来诸多潜在益处,例如指导治疗、家族测试,并深入了解肾脏疾病的分子发病机制。如今,随着基因检测作为诊断评估的一部分在临床中的广泛应用,肾病学家面临着为每位患者选择最合适的基因检测的艰巨任务,然后将结果应用于适当的临床环境中。本篇综述旨在使肾病学家熟悉遗传检测在肾脏疾病治疗中的广泛应用所带来的各种技术、后勤和伦理问题。