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

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

http://hdl.handle.net/10400.18/10595

Use this identifier to reference this record.

Name:	Description:	Size:	Format:
ckaf047.pdf		423.63 KB	Adobe PDF	Download

Send Feedback

Authors

Gris, Angelica Valz

Vicente, Astrid M.

Boccia, Stefania

Abstract(s)

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. (...)