RT Journal Article
SR Electronic
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
FD BMJ Publishing Group Ltd
SP jmedgenet-2020-107140
DO 10.1136/jmedgenet-2020-107140
A1 Emma Tudini
A1 Aimee L Davidson
A1 Uwe Dressel
A1 Lesley Andrews
A1 Yoland Antill
A1 Ashley Crook
A1 Michael Field
A1 Michael Gattas
A1 Rebecca Harris
A1 Judy Kirk
A1 Nicholas Pachter
A1 Lucinda Salmon
A1 Rachel Susman
A1 Sharron Townshend
A1 Alison H Trainer
A1 Katherine M Tucker
A1 Gillian Mitchell
A1 Paul A James
A1 Robyn L Ward
A1 Helen Mar Fan
A1 Nicola K Poplawski
A1 Amanda B Spurdle
YR 2020
UL http://jmg.bmj.com/content/early/2020/11/08/jmedgenet-2020-107140.abstract
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.