次世代シーケンシングを用いた薬理ゲノム検査のためのマルチジーンパネルの開発と検証：日常臨床への応用

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 metrics, ensuring reliability and accuracy of test results, even in individuals with complex genetic backgrounds. These results demonstrate 100% precision and reliability of the Ion AmpliSeq Pharmacogenomics Panel together with BIH-protocol for genetic variation detection. These findings demonstrate the panel's suitability for integration into routine clinical practice and its potential to advance personalized medicine.