Current Approaches to the Identification and Management of Hereditary Colorectal Cancer in Ireland
Jane Cudmore, Jan Leyden
Department of Gastroenterology, Mater Misericordiae University Hospital
Hereditary cancer syndromes account for 5-10% of all colorectal cancers (CRCs). Optimal management of hereditary CRC includes identification and diagnosis, access to genetic services, inclusion in a database or registry and high-quality endoscopic surveillance. In Ireland there are currently no national guidelines or referral pathways for hereditary CRC, which is likely to result in variability in approaches to identification and management.
To examine current approaches to the identification and management of hereditary CRC within BowelScreen.
A ten-question survey was distributed, via SurveyMonkey, to the lead endoscopist at 14 BowelScreen sites between February and May 2022.
Twelve (86%) sites responded. Eight (67%) report testing all CRCs for Lynch Syndrome (LS). Only 58% of sites report referring those with mismatch repair deficiency (possible Lynch Syndrome) for genetic testing. While seven (58%) sites manage endoscopic surveillance, only three (25%) provide an outpatient service, with minimal nursing or administrative support, and only two (17%) maintain a database or registry. Two (17%) sites have access to a clinician with clinical genetics training and one site has access to genetic counselling.
There is significant variability in the identification and management of hereditary CRC. Key areas to address include ensuring testing of all CRCs for LS, maintenance of a registry of those with hereditary CRC and improved access to genetic services. Developing diagnostic guidelines and referral pathways, both as part of the National Genomics Strategy and within BowelScreen, could promote standardised management of hereditary CRC. BowelScreen may be uniquely suited to incorporate management of these individuals given the existing consultant-delivered endoscopy, strict KPIs and robust recall mechanisms and this should be explored further.