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.
- clinical genetics
- cancer: breast
- cancer: colon
- diagnostics tests
- genetic screening/counselling
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Contributors AT developed and administered the preworkshop survey and analysed the data. AT and AFB organised and chaired the workshop. MT, LS, IMF, HH and CT developed management proposals. AT drafted the manuscript. AFB, MT, LS, IMF, HH and CT reviewed and critically revised the manuscript. AT, AFB, MT, LS, IMF, HH and CT approved the final version for publication.
Funding The UK Genetic Testing Network (UKGTN) funded the delegate fees for the workshop, which was held at Chilworth Manor, Southampton. The UK Cancer Genetics Group (UK-CGG) reimbursed travel expenses for participants who were not able to claim these locally.
Competing interests None declared.
Patient consent Not required.
Provenance and peer review Not commissioned; externally peer reviewed.
Collaborators Dr Kai Ren Ong, Cancer Genetics Lead, West Midlands Genetics Service Dr Alan Donaldson, Cancer Genetics Lead, Bristol Genetics Service Dr Carole Brewer, Cancer Genetics Lead, Peninsula GeneticsService Dr Julian Adlard, Cancer Genetics Lead, Yorkshire Genetics Service Dr Julian Barwell, Cancer Genetics Lead, Leicester Genetics Service Dr Lynn Greenhalgh, Cancer Genetics Lead, Liverpool Genetics Service Dr Fiona Lalloo, Cancer Genetics Lead, Manchester Genetics Service Dr Rachel Harrison, Cancer Genetics Lead, Nottingham Genetics Service Dr Dorothy Halliday, Cancer Genetics Lead, Oxford Genetics Service >Dr Zoe Kemp, On behalf of Cancer Genetics Lead, Royal Marsden Genetics Service Prof Zofia Miedzybrodzka, Cancer Genetics Lead, Aberdeen Genetics Service Dr Mary Porteous, Cancer Genetics Lead, Edinburgh Genetics Service Dr Rosemarie Davidson, Cancer Genetics Lead, Glasgow Genetics Service Dr Jackie Cook, Cancer Genetics Lead, Sheffield Genetics Service Dr Diana Eccles, Cancer Genetics Lead, Wessex Genetics Service Dr Munaza Ahmed, Cancer Genetics Lead, NE Thames Genetics Service Dr Anju Kulkarni, Cancer Genetics Lead, SE Thames Genetics Service Dr Katie Snape, Cancer Genetics Lead, SW Thames Genetics Service Dr Alex Murray, Cancer Genetics Lead, All Wales Genetics Service Dr Rachel Robinson, Clinical Scientist, Yorkshire Genetics Service Dr James Drummond, Clinical Scientist, East Anglian Genetics Service Dr Yvonne Wallis, Clinical Scientist, West Midlands Genetics Service Dr Gill Crawford, Genetic Counsellor, Wessex Genetics Service Sarah Gibson, Genetic Counsellor, Glasgow Genetics Service Oonagh Claber, Genetic Counsellor, Northern Genetics Service Jacquie Westwood, UKGTN Director Jane Deller, UKGTN Programme Manager Dr Chris Patch, UKGTN Representative Dr Fiona MacDonald, UKGTN Scientific Advisor Dr Sandi Deans, UKGTN Representative Dr Mark Kroese, UKGTN Public Health Adviso Dr Louise Izatt, UK-CGG Steering Committee Prof Nazneen Rahman, Institute of Cancer Research Prof Clare Turnbull, Genomics England Dr Joyce Solomons, Oxford Genetics Service
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