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


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.

Type Journal
ISBN 2056-7944 (Electronic) 2056-7944 (Linking)
Authors Tanudisastro, H. A.; Holman, K.; Ho, G.; Farnsworth, E.; Fisk, K.; Gayagay, T.; Hackett, E.; Jenkins, G.; Krishnaraj, R.; Lai, T.; Wong, K.; Patel, C.; Mallawaarachchi, A.; Mallett, A. J.; Bennetts, B.; Alexander, S. I.; McCarthy, H. J.
Publisher Name NPJ Genomic Medicine
Published Date 2021-03-31
Published Volume 6
Published Issue 1
Published Pages 20
Status Published in-print
DOI 10.1038/s41525-021-00184-x
URL link to publisher's version