Familial colorectal cancer referral to regional genetics department—a single centre experience

Evaluation of familial colorectal cancer referral can assist in the planning of future cancer surveillance. The aim of the study is to assess colorectal cancer referral pattern to our regional genetics service. Hospital computer records and/or department referral books were used to identify cases referred to the regional genetic service during a 10-year period (1992–2001 inclusive). All files were reviewed along with associated demographic data, risk assessments, referral details, results from mutation testing and screening recommendations. In terms of result, a total of 1,100 family files were reviewed (Familial Adenomatous Polyposis families were in a separate register). The number of referrals showed a 10-fold increase over the 10 years. 171 (15.6%) of families met the Amsterdam criteria II were classified as high-risk, 589 (53.5%) families were classified as moderate-risk and 337 (31.0%) as average or low risk. 22.9% families were referred with inaccurate cancer history. Sixty-one families have been identified with mismatch repair mutations. 56.8% of referred individuals were recommended to have regular colonoscopy ranging from 18 monthly to 5 yearly depending on their risks. In conclusion, there has been a 10-fold increase in individuals with suspected hereditary bowel cancer referred to the North West Regional Genetics Service in the last ten years. Genetic assessment may reduce the number of low-risk individuals and those who were found not to be mutation carriers from having unnecessary colonoscopic screening. Thus genetic risk assessment should precede the initiation of regular endoscopic screening.