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Paediatric genomic testing: Navigating medicare rebatable genomic testing


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Sachdev, R, Field, M, Baynam, GS, Beilby, J, Berarducci, M, Berman, Y, Boughtwood, T, Cusack, MB, Fitzgerald, V, Fletcher, J, Freckmann, ML, Grainger, N, Kirk, E, Lundie, B, Lunke, S, McGregor, L, Mowat, D, Parasivam, G, Tyrell, V, Wallis, M ORCID: 0000-0002-5441-1732, White, SM and S L Ma, A 2021 , 'Paediatric genomic testing: Navigating medicare rebatable genomic testing' , Journal of Paediatrics and Child Health, vol. 57, no. 4 , pp. 477-483 , doi: 10.1111/jpc.15382.

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Genomic testing for a genetic diagnosis is becoming standard of care for many children, especially those with a syndromal intellectual disability. While previously this type of specialised testing was performed mainly by clinical genetics teams, it is increasingly being ‘mainstreamed’ into standard paediatric care. With the introduction of a new Medicare rebate for genomic testing in May 2020, this type of testing is now available for paediatricians to order, in consultation with clinical genetics. Children must be aged less than 10 years with facial dysmorphism and multiple congenital abnormalities or have global developmental delay or moderate to severe intellectual disability. This rebate should increase the likelihood of a genetic diagnosis, with accompanying benefits for patient management, reproductive planning and diagnostic certainty. Similar to the introduction of chromosomal microarray into mainstream paediatrics, this genomic testing will increase the number of genetic diagnoses, however, will also yield more variants of uncertain significance, incidental findings, and negative results. This paper aims to guide paediatricians through the process of genomic testing, and represents the combined expertise of educators, clinical geneticists, paediatricians and genomic pathologists around Australia. Its purpose is to help paediatricians navigate choosing the right genomic test, consenting patients and understanding the possible outcomes of testing.

Item Type: Article
Authors/Creators:Sachdev, R and Field, M and Baynam, GS and Beilby, J and Berarducci, M and Berman, Y and Boughtwood, T and Cusack, MB and Fitzgerald, V and Fletcher, J and Freckmann, ML and Grainger, N and Kirk, E and Lundie, B and Lunke, S and McGregor, L and Mowat, D and Parasivam, G and Tyrell, V and Wallis, M and White, SM and S L Ma, A
Journal or Publication Title: Journal of Paediatrics and Child Health
Publisher: Wiley-Blackwell Publishing Ltd.
ISSN: 1034-4810
DOI / ID Number: 10.1111/jpc.15382
Copyright Information:

© 2021 The Authors Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians) This is an open access article under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0) License, ( which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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