@article {Tudini853, author = {Emma Tudini and Aimee L Davidson and Uwe Dressel and Lesley Andrews and Yoland Antill and Ashley Crook and Michael Field and Michael Gattas and Rebecca Harris and Judy Kirk and Nicholas Pachter and Lucinda Salmon and Rachel Susman and Sharron Townshend and Alison H Trainer and Katherine M Tucker and Gillian Mitchell and Paul A James and Robyn L Ward and Helen Mar Fan and Nicola K Poplawski and Amanda B Spurdle}, title = {Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility}, volume = {58}, number = {12}, pages = {853--858}, year = {2021}, doi = {10.1136/jmedgenet-2020-107140}, publisher = {BMJ Publishing Group Ltd}, abstract = {Background 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.Methods 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.Results 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.Conclusion 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.}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/58/12/853}, eprint = {https://jmg.bmj.com/content/58/12/853.full.pdf}, journal = {Journal of Medical Genetics} }