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澳大利亚和新西兰542个家庭常规临床实践中的肾脏基因检测面板测试。

Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.

作者信息

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

机构信息

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.

出版信息

NPJ Genom Med. 2021 Mar 4;6(1):20. doi: 10.1038/s41525-021-00184-x.


DOI:10.1038/s41525-021-00184-x
PMID:33664247
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7933190/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/8098be9c8cda/41525_2021_184_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/3c25ccd58fc5/41525_2021_184_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/4c90ae768afe/41525_2021_184_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/f5845784a4ae/41525_2021_184_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/29577fb30849/41525_2021_184_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/efe215ec4f0b/41525_2021_184_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/8098be9c8cda/41525_2021_184_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/3c25ccd58fc5/41525_2021_184_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/4c90ae768afe/41525_2021_184_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/f5845784a4ae/41525_2021_184_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/29577fb30849/41525_2021_184_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/efe215ec4f0b/41525_2021_184_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/578b/7933190/8098be9c8cda/41525_2021_184_Fig6_HTML.jpg

相似文献

[1]
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Prenatal Diagnosis of ACTG2-Related Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome-Case Report and Systematic Review.

J Clin Med. 2025-5-6

[2]
Utility of Genetic Testing in Adults with CKD: A Systematic Review and Meta-Analysis.

Clin J Am Soc Nephrol. 2025-1-1

[3]
Genetic kidney disease has a higher likelihood and cost of inpatient admissions compared to other aetiologies.

Genet Med Open. 2024-7-25

[4]
A guide to gene-disease relationships in nephrology.

Nat Rev Nephrol. 2025-2

[5]
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.

Kidney Int Rep. 2024-5-9

[6]
Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group.

Am J Kidney Dis. 2024-12

[7]
Exploring the impact and utility of genomic sequencing in established CKD.

Clin Kidney J. 2024-2-21

[8]
Chronic kidney disease in children: an update.

Clin Kidney J. 2023-4-24

[9]
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.

NPJ Genom Med. 2023-7-7

[10]
Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.

Am J Med Genet C Semin Med Genet. 2022-9

本文引用的文献

[1]
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Nature. 2020-5-27

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