Clinical and research utility of setting up a register for carriers of a hereditary cancer predisposition: Experience of a clinical genetics service

Kelly Kohut1, Jessica Bailey1, Elizabeth Winchester1, Stephanie Burcher1, Alexander Deng2, Virginia Attard1, Erin Baker1, Heidy Brandon1, Beth Coad1, Sharne Limb1, Merrie Manalo1, Darshna Dudakia1, Helen Hanson1,3, Katie Snape1,3

1South West Thames Regional Genetics Service, London, United Kingdom. 2Guy’s and St Thomas’ NHS Froundation Trust, London, United Kingdom. 3St George’s University of London, London, United Kingdom


Objectives: Clinical genetics services have identified large cohorts of carriers of a pathogenic variant in a cancer predisposition gene. Annual appointments are no longer feasible, nor always necessary. The creation of a register (database), along with open access follow-up allows for robust longitudinal management of carriers. The implementation of mainstream testing will ascertain an increasing number of carriers, who should be referred to genetics for ongoing follow-up.

Methods: Registers were created for BRCA, Lynch, endocrine and other cancer predispositions and used as a tool for audit, clinical management, service development and research.

Results: Across the registers, 2219 carriers were entered, spanning in age from 11 to 94. Only 5/1413 BRCA carriers requested not to be contacted and 607 consented to research. Sending letters at key time points facilitates patients coming back to clinic when needed, for example to discuss risk-reducing surgery when cancer risk begins to rise. Carriers who previously had ovaries but not tubes removed were referred for completion surgery. All 453 Lynch carriers were happy to be contacted and 142 have consented to research studies, including the CaPP3 trial. Set-up of an endocrine cancer register identified 38/160 patients who were not receiving gold standard screening prior to register implementation. Increased engagement with endocrine services resulted in a successful business case for a nurse to support this work and this register has increased to 293 patients within four years, with 49 enrolled in research.

Conclusions: Carrier registers for hereditary cancer predispositions are beneficial for clinical management and research recruitment.