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Title: Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
Austin Authors: Tudini, Emma;Davidson, Aimee L;Dressel, Uwe;Andrews, Lesley;Antill, Yoland;Crook, Ashley;Field, Michael;Gattas, Michael;Harris, Rebecca;Kirk, Judy;Pachter, Nicholas;Salmon, Lucinda ;Susman, Rachel;Townshend, Sharron;Trainer, Alison H;Tucker, Katherine M;Mitchell, Gillian;James, Paul A;Ward, Robyn L;Mar Fan, Helen;Poplawski, Nicola K;Spurdle, Amanda B
Affiliation: Cabrini Family Cancer Clinic, Cabrini Hospital, Malvern, Victoria, Australia
Sydney Medical School, University of Sydney, Centre for Cancer Research, Westmead Institute for Medical Research, Westmead, New South Wales, Australia
Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia
Faculty of Health and Medical Sciences, University of Western Australia, Perth, Western Australia, Australia
Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia
Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia
Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia
Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia
Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia
School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia
Clinical Genetics
Brisbane Genetics, Nicholson St Specialist Centre, Greenslopes, Queensland, Australia
Familial Cancer Service, Royal North Shore Hospital, St Leonards, New South Wales, Australia
Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
Australian Genomics Health Alliance, Melbourne, Victoria, Australia
Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia
Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, New South Wales, Australia
Prince of Wales Medical School, University of New South Wales, Randwick, New South Wales, Australia
Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Westmead, New South Wales, Australia
Issue Date: 9-Nov-2020
Date: 2020
Publication information: Journal of medical genetics 2021; 58(12): 853-858
Abstract: The strength of evidence supporting the validity of gene-disease relationships is variable. Hereditary cancer has the additional complexity of low or moderate penetrance for some confirmed disease-associated alleles. To promote national consistency in interpretation of hereditary cancer/tumour gene test results, we requested opinions of representatives from Australian Family Cancer Clinics regarding the clinical utility of 157 genes initially collated for a national research project. Viewpoints were sought by initial survey, face-to-face workshop and follow-up survey. Subsequent review was undertaken by the eviQ Cancer Genetics Reference Committee, a national resource providing evidence-based and consensus-driven cancer treatment protocols. Genes were categorised by clinical actionability as: relevant for testing on presentation of common cancer/tumour types (n=45); relevant for testing in the context of specific rare phenotypes (n=74); insufficient clinical utility (n=34) or contentious clinical utility (n=3). Opinions for several genes altered during the study time frame, due to new information. Through an iterative process, consensus was achieved on genes with clinical utility for hereditary cancer/tumour conditions in the Australian setting. This study highlighted need for regular review of gene-disease lists, a role assumed in Australia for hereditary cancer/tumour predisposition genes by the eviQ Cancer Genetics Reference Committee.
DOI: 10.1136/jmedgenet-2020-107140
ORCID: 0000-0002-5834-7862
Journal: Journal of medical genetics
PubMed URL: 33168572
Type: Journal Article
Subjects: clinical decision-making
genetic counseling
genetic predisposition to disease
genetic testing
Appears in Collections:Journal articles

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