From theory to practice: improving Lynch syndrome recognition through evidence-based education.

Abstract

Although genomic medicine has improved understanding of Lynch Syndrome (LS), many challenges remain in translating the knowledge in clinical practice. Between 1 in 279 and 400 persons in general population carry a pathogenic mutation in mismatch repair (MMR) genes linked to LS, but the vast majority remain undiagnosed. The clinical implementation gap arises from an interplay between physician factors, patient factors and logistic factors. In the first place, there is limited awareness and limited compliance among practicing physicians who often don’t recognize LS and don’t follow surveillance recommendations, missing opportunities to prevent cancer in affected persons and family members. One of the central problems lies in the current educational approach, particularly the lack of a curriculum on hereditary cancer syndromes during GI fellowship. Theoretical guidance alone is not actionable—it needs to be backed up by case-based practice with adequate provision both in terms of quantity and of insights. An evidence-based curriculum for achieving mastery standards on LS recognition and management shows early promise in fostering clinical transformation. Using repeat cycles of self-study and case-based practice with real-time feedback, learners can acquire base knowledge and problem-solving clinical decision skills faster and more effectively. This approach leads to a shift in practice. In the context of population screening programs for colorectal cancer (CRC) and gynecological cancers, this strategy can enhance the effectiveness of screening by reducing cancer incidence and mortality. Herein, we propose steps for the integration of LS screening into routine clinical practice, with particular focus on education.