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

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, Bennetts, Bruce, Alexander, Stephen I., and McCarthy, Hugh J. (2021) Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families. npj Genomic Medicine, 6. 20.

[img]
Preview
PDF (Published Version) - Published Version
Available under License Creative Commons Attribution.

Download (1MB) | Preview
View at Publisher Website: http://doi.org/10.1038/s41525-021-00184-...
 
7
611


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.

Item ID: 73367
Item Type: Article (Research - C1)
ISSN: 2056-7944
Copyright Information: © The Author(s) 2021. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Funders: National Health and Medical Research Council (NHMRC)
Projects and Grants: NHMRC GNT1161554
Date Deposited: 11 May 2022 02:54
FoR Codes: 32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320213 Medical genetics (excl. cancer genetics) @ 50%
32 BIOMEDICAL AND CLINICAL SCIENCES > 3202 Clinical sciences > 320214 Nephrology and urology @ 50%
SEO Codes: 20 HEALTH > 2001 Clinical health > 200105 Treatment of human diseases and conditions @ 100%
Downloads: Total: 611
Last 12 Months: 23
More Statistics

Actions (Repository Staff Only)

Item Control Page Item Control Page