Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the U.S. Surgeon General’s My Family Health Portrait

PURPOSE: This study examines the analytic validity of a software tool designed to provide individuals with risk assessments for colorectal cancer (CRC) based on personal health and family history information. The software is compatible with the U.S. Surgeon General’s My Family Health Portrait. METHODS: An algorithm for risk assessment was created using accepted colorectal risk assessment guidelines, and programmed into a software tool (MFHP). Risk assessments derived from 150 pedigrees using the MFHP tool were compared to “gold standard” risk assessments developed by three expert cancer genetic counselors (GCs). RESULTS: Genetic counselor risk assessments showed substantial, but not perfect, agreement. MFHP risk assessments for CRC cancer yielded a sensitivity for CRC risk of 81% (95% CI 54–96%) and specificity of 90% (95% CI 83–94%), respectively, when compared to GC pedigree review. The positive predictive values for risk for MFHP was 48% (95% CI 29–68%), while the negative predictive values was 98% (95% CI 93–99%). Agreement between MFHP and GC pedigree review was moderate (Kappa = 0.54) CONCLUSIONS: The analytic validity of the MFHP CRC risk assessment software is similar to other types of screening tools used in primary care. Future investigations should explore the clinical validity and utility of the software in diverse population groups.