Colorectal Cancer Screening in Hereditary and Familial High-Risk Populations: Best Practices and Future Directions

Colorectal cancer (CRC) remains a leading cause of cancer-related morbidity and mortality worldwide yet is largely preventable through effective screening and surveillance. While most CRC cases are sporadic, a substantial proportion occur in individuals at increased risk due to hereditary cancer syndromes or family history who require tailored screening strategies different from population-based approaches with respect to age of initiation, surveillance intervals, and modality. This review summarizes current evidence on CRC risk across higher risk groups, including Lynch syndrome, polyposis syndromes, carriers of moderate-penetrance genes, and individuals with a family history of CRC. Efficacy of colonoscopic surveillance and the potential roles of emerging biomarker tests and artificial intelligence-assisted technologies for detection of colorectal neoplasia are discussed. Current CRC surveillance guidelines, quality metrics and adherence in higher risk groups are reviewed. As research in genomics, biomarkers, microbiome, and artificial intelligence evolves, personalized risk-based screening strategies hold promise for optimizing CRC prevention. High-quality, population-specific data will be essential to refine surveillance intensity, improve adherence, and reduce CRC burden in higher risk populations.