TY - JOUR T1 - Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility JF - Journal of Medical Genetics JO - J Med Genet SP - 853 LP - 858 DO - 10.1136/jmedgenet-2020-107140 VL - 58 IS - 12 AU - Emma Tudini AU - Aimee L Davidson AU - Uwe Dressel AU - Lesley Andrews AU - Yoland Antill AU - Ashley Crook AU - Michael Field AU - Michael Gattas AU - Rebecca Harris AU - Judy Kirk AU - Nicholas Pachter AU - Lucinda Salmon AU - Rachel Susman AU - Sharron Townshend AU - Alison H Trainer AU - Katherine M Tucker AU - Gillian Mitchell AU - Paul A James AU - Robyn L Ward AU - Helen Mar Fan AU - Nicola K Poplawski AU - Amanda B Spurdle Y1 - 2021/12/01 UR - http://jmg.bmj.com/content/58/12/853.abstract N2 - 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. ER -