A PeRsOnalized Prevention roadmap for the future HEalThcare

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Implementation of genetic tests for disease prevention: challenges in evidence synthesis across clinical utility domains

Publication . Gris, Angelica Valz; Vicente, Astrid M.; Boccia, Stefania

Excerpt: Robust evidence supports the critical role of genetic risk in shaping the frequency of a broad range of diseases, underscoring its significance as a determinant of health outcomes [1]. Accordingly, genetic and genomic tests hold significant potential for disease prevention by stratifying populations based on individual genetic profiles and guiding targeted interventions. However, despite the enthusiasm surrounding these technologies, their integration into preventive healthcare faces significant hurdles, primarily due to the insufficient evidence supporting their clinical utility [2]. Clinical utility, though not universally defined, generally refers to the test’s usefulness to provide actionable information that improves health outcomes. (...)

2025-06-01Journal article

Open access