1. Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility
- Author
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Yoland Antill, Paul A. James, Judy Kirk, Uwe Dressel, Nicola K. Poplawski, Lucinda Salmon, Nicholas Pachter, Aimee L Davidson, Sharron Townshend, Michael Gattas, Emma Tudini, Gillian Mitchell, Helen Mar Fan, Rachel Susman, Katherine M. Tucker, Robyn L. Ward, Michael Field, Ashley Crook, Alison H. Trainer, Amanda B. Spurdle, Lesley Andrews, and Rebecca Harris
- Subjects
Male ,0301 basic medicine ,medicine.medical_specialty ,Consensus ,Genetic counseling ,Genetic Counseling ,Context (language use) ,Medical Oncology ,03 medical and health sciences ,Strength of evidence ,0302 clinical medicine ,Neoplasms ,Genetics ,Humans ,Medicine ,Genetic Predisposition to Disease ,Genetic Testing ,Gene ,Genetic Association Studies ,Germ-Line Mutation ,Genetics (clinical) ,Genetic testing ,Family Health ,Genetics & Heredity ,medicine.diagnostic_test ,business.industry ,Tumor Suppressor Proteins ,Australia ,Cancer ,Molecular Sequence Annotation ,medicine.disease ,Penetrance ,Pedigree ,030104 developmental biology ,030220 oncology & carcinogenesis ,Family medicine ,06 Biological Sciences, 11 Medical and Health Sciences ,Female ,Hereditary Cancer ,business - Abstract
BackgroundThe 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.MethodsTo 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.ResultsGenes 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.ConclusionThrough 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.
- Published
- 2020
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