Tanudisastro Hope A, Holman Katherine, Ho Gladys, Farnsworth Elizabeth, Fisk Katrina, Gayagay Thet, Hackett Emma, Jenkins Gemma, Krishnaraj Rahul, Lai Tiffany, Wong Karen, Patel Chirag, Mallawaarachchi Amali, Mallett Andrew J, Bennetts Bruce, Alexander Stephen I, McCarthy Hugh J
Faculty of Science and Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Department of Molecular Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.
NPJ Genom Med. 2021 Mar 4;6(1):20. doi: 10.1038/s41525-021-00184-x.
Genetic testing in nephrology clinical practice has moved rapidly from a rare specialized test to routine practice both in pediatric and adult nephrology. However, clear information pertaining to the likely outcome of testing is still missing. Here we describe the experience of the accredited Australia and New Zealand Renal Gene Panels clinical service, reporting on sequencing for 552 individuals from 542 families with suspected kidney disease in Australia and New Zealand. An increasing number of referrals have been processed since service inception with an overall diagnostic rate of 35%. The likelihood of identifying a causative variant varies according to both age at referral and gene panel. Although results from high throughput genetic testing have been primarily for diagnostic purposes, they will increasingly play an important role in directing treatment, genetic counseling, and family planning.
在肾脏病临床实践中,基因检测已迅速从一项罕见的专业检测发展成为儿科和成人肾脏病领域的常规操作。然而,关于检测可能结果的明确信息仍然缺失。在此,我们描述了经认可的澳大利亚和新西兰肾脏基因专家组临床服务的经验,报告了对来自澳大利亚和新西兰542个疑似肾病家庭的552名个体进行测序的情况。自该服务启动以来,转诊病例数量不断增加,总体诊断率为35%。发现致病变异的可能性因转诊时的年龄和基因专家组而异。尽管高通量基因检测的结果主要用于诊断目的,但它们在指导治疗、遗传咨询和计划生育方面将发挥越来越重要的作用。
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