Paediatric genomic testing: Navigating medicare rebatable genomic testing.

Autor: Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Field M; Cancer Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.; GOLD Service, Hunter-New England Health Service, Newcastle, New South Wales, Australia., Baynam GS; Department of Health, Genetic Services of Western Australia, Perth, Western Australia, Australia., Beilby J; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia., Berarducci M; Health Education and Training Institute (HETI), NSW Health Service, Sydney, New South Wales, Australia., Berman Y; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Boughtwood T; Australian Genomics, Parkville, Victoria, Australia.; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Cusack MB; NSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia., Fitzgerald V; Speciality Services and Technology Evaluation Unit, Strategic Reform and Planning Branch, NSW Ministry of Health, Sydney, New South Wales, Australia., Fletcher J; Department of Paediatrics, The Tweed Hospital, Tweed Heads, New South Wales, Australia., Freckmann ML; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia., Grainger N; NSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia., Kirk E; Centre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Sydney, New South Wales, Australia., Lundie B; Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia., McGregor L; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, South Australia, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Parasivam G; NSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia., Tyrell V; Children's Cancer Institute. Randwick, Sydney, New South Wales, Australia., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Royal Hobart Hospital, Hobart, Tasmania, Australia.; School of Medicine, The University of Tasmania, Hobart, Tasmania, Australia., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., S L Ma A; Specialty of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia.; Department of Clinical Genetics, Children's Hospital Westmead, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.
Jazyk: angličtina
Zdroj: Journal of paediatrics and child health [J Paediatr Child Health] 2021 Apr; Vol. 57 (4), pp. 477-483. Date of Electronic Publication: 2021 Feb 10.
DOI: 10.1111/jpc.15382
Abstrakt: 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.
(© 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).)
Databáze: MEDLINE
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