N26: Consensus For Genes To Be Included On Cancer Panel Tests Offered By UK Genetics Services: Guidelines Of The UK Cancer Genetics Group

A. Taylor1, A. F. Brady2, I. M. Frayling3, H. Hanson4, M. Tischkowitz1, 5, C. Turnbull6, 7, 8, L. Side9

1 – East Anglian Medical Genetics Service, Box 134, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge, CB2 0QQ. 2 – North West Thames Regional Genetics Service, Level 8V, Northwick Park and St Mark’s Hospitals, Watford Road, Harrow, HA1 3UJ. 3 – All Wales Medical Genetics Service, Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW Institute of Cancer & Genetics, Cardiff University, Cardiff, Wales, CF14 4XN. 4 – South West Thames Regional Genetics Service, St George’s Hospital, Blackshaw Road, London, SW17 0QT. 5 – Department of Medical Genetics, University of Cambridge, Box 238, Addenbrooke’s Hospital, Hills Road, Cambridge, CB2 0QQ. 6 – Division of Genetics and Epidemiology, The Institute of Cancer Research, 123 Old Brompton Road, London, SW7 3RP. 7 – South East Thames Regional Genetics Service, Guys and St Thomas NHS Foundation Trust, Great Maze Pond, London, SE1 9RT. 8 – William Harvey Research Institute, Queen Mary University, Charterhouse Square, London, EC1M 6BQ. 9 – Wessex Clinical Genetics Service, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA.


Aim: Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is debate over the clinical utility of testing genes for which there is currently limited data regarding the degree of associated cancer risk. To address discrepancies that have arisen in the provision of these tests across the UK, the UK Cancer Genetics Group (UK-CGG), facilitated a workshop with representation from the majority of NHS Clinical Genetics Services.

Method: We administered a pre-workshop survey to canvas opinion on genes to be included on panels for familial breast, ovarian, or colorectal cancer/polyposis. Participants then presented arguments for and against inclusion of genes without prior majority agreement, and this was followed by focused discussion.

Results: 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.

Conclusion: We have recommended genes to be included on panels for investigating familial breast, ovarian, or colorectal cancer/polyposis. 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.