Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility

Emma Tudini, Aimee L. Davidson, Uwe Dressel, Lesley Andrews, Yoland Antill, Ashley Crook, Michael Field, Michael Gattas, Rebecca Harris, Judy Kirk, Nicholas Pachter, Lucinda Salmon, Rachel Susman, Sharron Townshend, Alison H. Trainer, Katherine M. Tucker, Gillian Mitchell, Paul A. James, Robyn L. Ward, Helen Mar FanNicola K. Poplawski, Amanda B. Spurdle*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)853-858
Number of pages6
JournalJournal of Medical Genetics
Issue number12
Early online date9 Nov 2020
Publication statusPublished - 22 Nov 2021
Externally publishedYes


  • clinical decision-making
  • genetic counseling
  • genetic predisposition to disease
  • genetic testing


Dive into the research topics of 'Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility'. Together they form a unique fingerprint.

Cite this