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Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.

Published version
Peer-reviewed

Change log

Authors

Brady, Angela F 
Frayling, Ian M 
Hanson, Helen 
Tischkowitz, Marc 

Abstract

Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have arisen in the provision of these tests across the UK, the UK Cancer Genetics Group facilitated a 1-day workshop with representation from the majority of National Health Service (NHS) clinical genetics services. Using a preworkshop survey followed by focused discussion of genes without prior majority agreement for inclusion, we achieved consensus for panels of cancer genes with sufficient evidence for clinical utility, to be adopted by all NHS genetics services. To support consistency in the delivery of these tests and advice given to families across the country, we also developed management proposals for individuals who are found to have pathogenic mutations in these genes. However, we fully acknowledge that the decision regarding what test is most appropriate for an individual family rests with the clinician, and will depend on factors including specific phenotypic features and the family structure.

Description

Keywords

cancer: breast, cancer: colon, clinical genetics, diagnostics tests, genetic screening/counselling, Genetic Counseling, Genetic Predisposition to Disease, Genetic Testing, Guidelines as Topic, Humans, Mutation, Neoplasms, United Kingdom

Journal Title

J Med Genet

Conference Name

Journal ISSN

0022-2593
1468-6244

Volume Title

55

Publisher

BMJ