Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.
Brady, Angela F
UK Cancer Genetics Group (UK-CGG),
Journal of medical genetics
British Medical Association
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Taylor, A., Brady, A. F., Frayling, I. M., Hanson, H., Tischkowitz, M., Turnbull, C., Side, L., & et al. (2018). Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.. Journal of medical genetics, 55 (6), 372-377. https://doi.org/10.1136/jmedgenet-2017-105188
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 is 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 (UK-CGG), facilitated a one-day workshop with representation from the majority of NHS Clinical Genetics Services. Using a pre-workshop 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. Background NHS Clinical Genetics Services have in recent years taken advantage of the discovery of new genes and emerging evidence for associated cancer predisposition to carry out more extensive genetic testing via cancer gene panels, aiming to provide information and tailored management for more families with a hereditary cancer predisposition. However, there is much debate over the utility of testing genes for which there exists limited data regarding impact on cancer risk1, and the gradual evolution of these panels has led to discrepancies in the genes tested by different laboratories. This has resulted in differences between what is offered to patients, as well as difficulty in managing families where relatives are located in different parts of the country. For example, a relative may find that testing for the gene identified in their family is not offered in their region, or may be given different advice about risk management from that given to a relative with the same genetic variant. To address this, the UK Cancer Genetics Group (UK-CGG), supported by the UK Genetic Testing Network (UKGTN), facilitated a one-day workshop to achieve consensus for panels of cancer genes with clear clinical utility, to be adopted by all NHS Genetics Services. In addition, consensus guidelines for the management of individuals with pathogenic variants in these genes were subsequently developed.
UK Cancer Genetics Group (UK-CGG), Humans, Neoplasms, Genetic Predisposition to Disease, Genetic Counseling, Mutation, Guidelines as Topic, Genetic Testing, United Kingdom
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External DOI: https://doi.org/10.1136/jmedgenet-2017-105188
This record's URL: https://www.repository.cam.ac.uk/handle/1810/275932
Attribution-NonCommercial 4.0 International
Licence URL: http://creativecommons.org/licenses/by-nc/4.0/
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