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.
- genetic testing
- clinical decision-making
- genetic counseling
- genetic predisposition to disease
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HMF, NKP and ABS are joint senior authors.
Contributors ABS, ET, HMF, NKP and NP planned the study and drafted the initial survey. ABS, ET, HMF and NKP organised the workshop, drafted the follow-up survey and analysed the results of both surveys. HMF organised and discussed findings at the eviQ Cancer Genetics Reference Committee. ABS, ET, HMF and NKP drafted the manuscript. All authors have provided critical review of the manuscript.
Funding Australian Genomics Health Alliance is funded by the National Health and Medical Research Council’s Targeted Call for Research into Preparing Australia for the Genomics Revolution in Health Care (NHMRC grant 1113531) and the Medical Research Future Fund, including support for ET and UD. ABS was supported by a NHMRC Senior Research Fellowship (ID 1061778). ALD is supported by an Australian Government Research Training Program (RTP) Scholarship and a QIMR Berghofer Higher Degree Committee PhD Top Up Scholarship.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.