Masterclass: Colorectal Screening Plus (Virtual) | September 2025-Precision Power: Hereditary and Risk-Based Testing in CRC Screening

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Video Summary

Dr. Samir Gupta discusses hereditary and risk-based colorectal cancer (CRC) screening, emphasizing personalized approaches based on race, ethnicity, family history, and genetic predisposition. He highlights that American Indian, Alaska Native, and Black populations have significantly higher CRC incidence and mortality, likely due to social determinants of health, prompting earlier screening recommendations (e.g., starting at age 40 for Alaska Native people). Family history shifts CRC risk earlier, with screening advised 10 years before the youngest affected relative's diagnosis. Tools like the PREM-5 model help identify individuals at risk for Lynch syndrome—a common hereditary CRC syndrome with varying cancer risks depending on the specific gene mutation. Management includes early and frequent colonoscopies and aspirin use. For adenomatous polyposis, ≥20 cumulative adenomas may indicate a hereditary syndrome, warranting genetic testing and, in some cases, surgery. Serrated polyposis syndrome, the most common but underdiagnosed polyposis, carries a ~20% CRC risk and requires careful surveillance rather than surgery. Dr. Gupta illustrates case examples stressing the importance of thorough family history, genetic evaluation referrals, and cumulative polyp assessment. Key takeaways include prioritizing screening for high-risk racial groups, utilizing family history and genetic tools to guide care, routine Lynch syndrome screening in CRC patients, and vigilant recognition of polyposis syndromes to improve prevention and management outcomes.

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Samir Gupta

Keywords

colorectal cancer

hereditary screening

risk-based screening

racial disparities

family history

Lynch syndrome

polyposis syndromes