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A scoping review of the assessment reports of genetic or genomic tests reveals ...

Pezzullo, Angelo Maria; Gris, Angelica Valz; Scarsi, Nicolò; Tona, Diego Maria; Porcelli, Martina; Di Pumpo, Matteo; Piko, Peter; Adany, Roza

Objectives: Genetic and genomic tests are the cornerstone of personalized preventive approaches. Inconsistency in evaluating their clinical utility is often cited as a reason for their limited implementation in clinical practice. Previous reviews have primarily focused on theoretical frameworks used for clinical utility evaluations of genetic tests, rather than actual assessments and examined dimensions, rather...


Implementation of genetic tests for disease prevention: challenges in evidence ...

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...


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