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

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 accredit...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Hope A. Tanudisastro, Katherine Holman, Gladys Ho, Elizabeth Farnsworth, Katrina Fisk, Thet Gayagay, Emma Hackett, Gemma Jenkins, Rahul Krishnaraj, Tiffany Lai, Karen Wong, Chirag Patel, Amali Mallawaarachchi, Andrew J. Mallett, Bruce Bennetts, Stephen I. Alexander, Hugh J. McCarthy
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/a7423469dafd4c0d913a4f96c90d30b8
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:a7423469dafd4c0d913a4f96c90d30b8
record_format	dspace
spelling	oai:doaj.org-article:a7423469dafd4c0d913a4f96c90d30b82021-12-02T11:35:42ZAustralia and New Zealand renal gene panel testing in routine clinical practice of 542 families10.1038/s41525-021-00184-x2056-7944https://doaj.org/article/a7423469dafd4c0d913a4f96c90d30b82021-03-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00184-xhttps://doaj.org/toc/2056-7944Abstract 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.Hope A. TanudisastroKatherine HolmanGladys HoElizabeth FarnsworthKatrina FiskThet GayagayEmma HackettGemma JenkinsRahul KrishnarajTiffany LaiKaren WongChirag PatelAmali MallawaarachchiAndrew J. MallettBruce BennettsStephen I. AlexanderHugh J. McCarthyNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Hope A. Tanudisastro Katherine Holman Gladys Ho Elizabeth Farnsworth Katrina Fisk Thet Gayagay Emma Hackett Gemma Jenkins Rahul Krishnaraj Tiffany Lai Karen Wong Chirag Patel Amali Mallawaarachchi Andrew J. Mallett Bruce Bennetts Stephen I. Alexander Hugh J. McCarthy Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
description	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.
format	article
author	Hope A. Tanudisastro Katherine Holman Gladys Ho Elizabeth Farnsworth Katrina Fisk Thet Gayagay Emma Hackett Gemma Jenkins Rahul Krishnaraj Tiffany Lai Karen Wong Chirag Patel Amali Mallawaarachchi Andrew J. Mallett Bruce Bennetts Stephen I. Alexander Hugh J. McCarthy
author_facet	Hope A. Tanudisastro Katherine Holman Gladys Ho Elizabeth Farnsworth Katrina Fisk Thet Gayagay Emma Hackett Gemma Jenkins Rahul Krishnaraj Tiffany Lai Karen Wong Chirag Patel Amali Mallawaarachchi Andrew J. Mallett Bruce Bennetts Stephen I. Alexander Hugh J. McCarthy
author_sort	Hope A. Tanudisastro
title	Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
title_short	Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
title_full	Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
title_fullStr	Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
title_full_unstemmed	Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
title_sort	australia and new zealand renal gene panel testing in routine clinical practice of 542 families
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/a7423469dafd4c0d913a4f96c90d30b8
work_keys_str_mv	AT hopeatanudisastro australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT katherineholman australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT gladysho australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT elizabethfarnsworth australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT katrinafisk australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT thetgayagay australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT emmahackett australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT gemmajenkins australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT rahulkrishnaraj australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT tiffanylai australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT karenwong australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT chiragpatel australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT amalimallawaarachchi australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT andrewjmallett australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT brucebennetts australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT stephenialexander australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families AT hughjmccarthy australiaandnewzealandrenalgenepaneltestinginroutineclinicalpracticeof542families
_version_	1718395838435164160

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

Ejemplares similares