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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

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 disc...

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Autores principales: Taylor, Amy, Brady, Angela F, Frayling, Ian M, Hanson, Helen, Tischkowitz, Marc, Turnbull, Clare, Side, Lucy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992364/
https://www.ncbi.nlm.nih.gov/pubmed/29661970
http://dx.doi.org/10.1136/jmedgenet-2017-105188
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author Taylor, Amy
Brady, Angela F
Frayling, Ian M
Hanson, Helen
Tischkowitz, Marc
Turnbull, Clare
Side, Lucy
author_facet Taylor, Amy
Brady, Angela F
Frayling, Ian M
Hanson, Helen
Tischkowitz, Marc
Turnbull, Clare
Side, Lucy
author_sort Taylor, Amy
collection PubMed
description 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.
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spelling pubmed-59923642018-06-11 Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group Taylor, Amy Brady, Angela F Frayling, Ian M Hanson, Helen Tischkowitz, Marc Turnbull, Clare Side, Lucy J Med Genet Position Statement 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. BMJ Publishing Group 2018-06 2018-04-16 /pmc/articles/PMC5992364/ /pubmed/29661970 http://dx.doi.org/10.1136/jmedgenet-2017-105188 Text en © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
spellingShingle Position Statement
Taylor, Amy
Brady, Angela F
Frayling, Ian M
Hanson, Helen
Tischkowitz, Marc
Turnbull, Clare
Side, Lucy
Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group
title Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group
title_full Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group
title_fullStr Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group
title_full_unstemmed Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group
title_short Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group
title_sort consensus for genes to be included on cancer panel tests offered by uk genetics services: guidelines of the uk cancer genetics group
topic Position Statement
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992364/
https://www.ncbi.nlm.nih.gov/pubmed/29661970
http://dx.doi.org/10.1136/jmedgenet-2017-105188
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