Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
J Med Genet
; 58(12): 853-858, 2021 12.
Article
em En
| MEDLINE
| ID: mdl-33168572
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Predisposição Genética para Doença
/
Anotação de Sequência Molecular
/
Aconselhamento Genético
/
Neoplasias
Tipo de estudo:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
/
Qualitative_research
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Oceania
Idioma:
En
Revista:
J Med Genet
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Austrália