PT  - JOURNAL ARTICLE
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
TI  - Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility
AID  - 10.1136/jmedgenet-2020-107140
DP  - 2021 Dec 01
TA  - Journal of Medical Genetics
PG  - 853--858
VI  - 58
IP  - 12
4099  - http://jmg.bmj.com/content/58/12/853.short
4100  - http://jmg.bmj.com/content/58/12/853.full
SO  - J Med Genet2021 Dec 01; 58
AB  - 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.