Global Perspectives on Managing Incidental and Secondary Findings in Genomic Testing: A Comprehensive Review of Policies, Implementation Challenges, and Stakeholder Perspectives.

The rapid advancement of genome sequencing has increased the detection of incidental findings (IFs) and secondary findings (SFs), raising complex ethical and practical challenges in both clinical and research settings. This review examines policies, guidelines, and stakeholder perspectives on IF/SF across different jurisdictions, focusing on articles published between 2000 and 2024. We found significant variation in IF/SF reporting practices, reflecting different healthcare systems and ethical frameworks. While the American College of Medical Genetics and Genomics supports proactive SF reporting, European and Canadian policies adopt more conservative approaches. Stakeholder perspectives also varied; patients generally preferred receiving results, whereas healthcare professionals' support depended on factors including actionability and patient age. Particular challenges emerged in relation to pediatric cases, with ongoing debates about balancing future autonomy with potential medical benefits. Implementation barriers were identified across jurisdictions, including resource constraints, knowledge limitations, and a lack of standardized procedures. Despite consensus on the potential value of IF/SF reporting, inconsistencies in approaches and implementation challenges persist. Current evidence suggests the need for more sophisticated, context-sensitive frameworks that can accommodate different healthcare systems while maintaining consistent ethical standards. Further research is required to understand the long-term effects of different reporting approaches on patients, healthcare systems, and society.