Early Experience of a New Colorectal Familial Clinic


Aine Stakelum, Des Winter, Gareth Horgan, Kieran Sheahan, Ian Frayling, Rory Kennelly

St Vincent’s University Hospital, Dublin, Ireland


St Vincent’s Hospital Group sees 400 new colorectal cancer patients a year. Our pathology department perform reflex testing for mismatch repair protein deficiency.  Patients requiring genetic counselling and testing are reliant on a poorly resourced service through the national paediatric service. Our objective was to create a familial clinic to provide timely access for our patients to counselling and testing.


The study time period was January 2018-July 2019. Genetic oversight for the project was provided by Ian Frayling. Based on international standards, projected requirements for the clinic were calculated. Genetic testing was organised through Ambry Genetics. Patients requiring referral to the familial clinic were identified via the weekly multi-disciplinary team meeting. Patients awaiting referral to the national centre and relatives of relevant cancer patients were also invited to attend.


Projections predicted 36 patients would require counselling from the cancer cohort during the study period. 80 patients were seen in the familial clinic. 59 patients underwent genetic testing, 10 for polyposis related phenotype and 49 for possible Lynch Syndrome. 31 of the possible Lynch cohort had a cancer diagnosis. 21 patients were diagnosed with Lynch syndrome, 10 from the cancer cohort and 11 from cascade testing. 2 tests returned variation of unknown significance.


Numbers of patients requiring counselling from a cancer centre can be reliably calculated but non-cancer patients with family history and cascade testing can increase numbers. With timely access to genetic testing and appropriate oversight, an integrated familial clinic is feasible as part of a busy colorectal practice.