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

Tudini, E; Davidson, AL; Dressel, U; Andrews, L; Antill, Y; Crook, A; Field, M; Gattas, M; Harris, R; Kirk, J; Pachter, N; Salmon, L; Susman, R; Townshend, S; Trainer, AH; Tucker, KM; Mitchell, G; James, PA; Ward, RL; Mar Fan, H; Poplawski, NK; Spurdle, AB

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

Tudini, E Davidson, AL Dressel, U Andrews, L Antill, Y Crook, A

Field, M Gattas, M Harris, R Kirk, J Pachter, N Salmon, L Susman, R Townshend, S Trainer, AH Tucker, KM Mitchell, G James, PA Ward, RL Mar Fan, H Poplawski, NK Spurdle, AB

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Publisher:: BMJ
Publication Type:: Journal Article
Citation:: Journal of medical genetics, 2020, pp. jmedgenet-2020-107140
Issue Date:: 2020-11-09

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Field	Value	Language
dc.contributor.author	Tudini, E
dc.contributor.author	Davidson, AL
dc.contributor.author	Dressel, U
dc.contributor.author	Andrews, L
dc.contributor.author	Antill, Y
dc.contributor.author	Crook, A https://orcid.org/0000-0001-5578-0460
dc.contributor.author	Field, M
dc.contributor.author	Gattas, M
dc.contributor.author	Harris, R
dc.contributor.author	Kirk, J
dc.contributor.author	Pachter, N
dc.contributor.author	Salmon, L
dc.contributor.author	Susman, R
dc.contributor.author	Townshend, S
dc.contributor.author	Trainer, AH
dc.contributor.author	Tucker, KM
dc.contributor.author	Mitchell, G
dc.contributor.author	James, PA
dc.contributor.author	Ward, RL
dc.contributor.author	Mar Fan, H
dc.contributor.author	Poplawski, NK
dc.contributor.author	Spurdle, AB
dc.date.accessioned	2020-11-24T02:50:18Z
dc.date.available	2020-09-12
dc.date.available	2020-11-24T02:50:18Z
dc.date.issued	2020-11-09
dc.identifier.citation	Journal of medical genetics, 2020, pp. jmedgenet-2020-107140
dc.identifier.issn	0022-2593
dc.identifier.issn	1468-6244
dc.identifier.uri	http://hdl.handle.net/10453/144291
dc.description.abstract	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.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	BMJ
dc.relation.ispartof	Journal of medical genetics
dc.relation.isbasedon	10.1136/jmedgenet-2020-107140
dc.rights	info:eu-repo/semantics/restrictedAccess
dc.subject	06 Biological Sciences, 11 Medical and Health Sciences
dc.subject.classification	Genetics & Heredity
dc.title	Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
dc.type	Journal Article
utslib.location.activity	England
utslib.for	06 Biological Sciences
utslib.for	11 Medical and Health Sciences
pubs.organisational-group	/University of Technology Sydney/Faculty of Health
pubs.organisational-group	/University of Technology Sydney
utslib.copyright.status	closed_access	*
dc.date.updated	2020-11-24T02:50:14Z
pubs.publication-status	Published

Abstract:

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.

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http://hdl.handle.net/10453/144291