Family history in colonoscopy patients: feasibility and performance of electronic and paper-based surveys for colorectal cancer risk assessment in the outpatient setting

Background and Aims Family history is crucial in stratifying patients' risk for colorectal cancer (CRC). Previous risk assessment tools developed for use in clinic or endoscopy settings have demonstrated suboptimal specificity for identifying patients with hereditary cancer syndromes. Our aim was to test the feasibility and performance of 2 family history surveys (paper and electronic) in individuals presenting for outpatient colonoscopy. Methods Patients presenting for outpatient colonoscopy at a tertiary care center were asked to complete a 5-question paper risk assessment survey (short paper survey) either alone or in conjunction with a second, comprehensive electronic family risk assessment survey (comprehensive tablet survey). Each subject's survey results, along with the electronic medical record, were reviewed, and 10 high-risk criteria and PREMM1,2,6 model scores (a predictive model for carrying a Lynch syndrome-associated gene mutation) were used to identify patients warranting genetic evaluation for suspected hereditary cancer syndromes. Results Six hundred patients completed the short paper survey (cohort 1), with an additional 100 patients completing both the short paper and comprehensive tablet survey (cohort 2). Using 10 high-risk criteria and/or a PREMM1,2,6 score ≥5%, we identified 10% and 9% of patients as high risk for CRC in cohorts 1 and 2, respectively. Of the 69 high-risk subjects, 23 (33%) underwent genetic evaluations and 7 (10%) carried germline mutations associated with cancer predisposition. Both patients and endoscopists reported the tools were user-friendly and helpful for CRC risk stratification. Conclusions Systematic assessment of family history in colonoscopy patients is feasible and can help endoscopists identify high-risk patients who would benefit from genetic evaluation.