A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.

ABSTRACT:

Background

Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinical applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into a public healthcare system and its implementation in the routine diagnosis process during a five-year pilot program.

Methods

Our approach involved customized probe designs, the generation of virtual panels and the development of a personalized medicine module (PMM) for variant prioritization. This strategy was applied to 6500 individuals including 6267 index patients and 233 NGS-based ca

SUBMITTER: Mendez-Vidal C 

PROVIDER: S-EPMC11748347 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature