Development and Validation of a Multigene Panel for Pharmacogenomics Testing Using Next-Generation Sequencing for Routine Clinical Practice.

ABSTRACT: Pharmacogenomics (PGx) is a rapidly evolving field that aims to personalize medicine by identifying genetic variations that influence drug response. While next-generation sequencing (NGS)-based applications are not yet widely adopted in clinical routine, this study aimed to validate 9 genes of the NGS-based Ion AmpliSeq Pharmacogenomics Panel on 28 samples with known diplotypes for routine clinical implementation at Bumrungrad International Hospital (BIH). The panel was evaluated for accuracy (> 96.77%), sensitivity (100%), specificity (> 95.31%), positive predictive value (PPV; > 90.63%), negative predictive value (NPV; 100%), and reproducibility (> 99.85%). A novel bioinformatics pipeline, BIH-protocol, was specifically developed and designed to mitigate errors across all measurement met

SUBMITTER: Hongkaew Y 

PROVIDER: S-EPMC12744195 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature