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Development and Validation of a Multigene Panel for Pharmacogenomics Testing Using Next-Generation Sequencing for
Yaowaluck Hongkaew1,2, Pattapon Kunadirek2, Montinee Sangtian3
1Laboratory of Research and Development, Bumrungrad International Hospital, Bangkok, Thailand.
Clinical and Translational Science
|December 28, 2025
Summary
This study validates the Ion AmpliSeq Pharmacogenomics Panel for clinical use, showing high accuracy in detecting genetic variations that affect drug response. The findings support its integration into routine practice for personalized medicine.
Area of Science:
- Genetics
- Pharmacology
- Bioinformatics
Background:
- Pharmacogenomics (PGx) personalizes medicine by linking genetic variations to drug responses.
- Next-generation sequencing (NGS) applications are emerging for clinical use.
- Validating PGx panels is crucial for routine implementation.
Purpose of the Study:
- To validate the NGS-based Ion AmpliSeq Pharmacogenomics Panel for 9 genes.
- To assess the panel's performance for clinical implementation at Bumrungrad International Hospital (BIH).
- To develop and evaluate a novel bioinformatics pipeline (BIH-protocol) for accurate genetic variation detection.
Main Methods:
- Validation of the Ion AmpliSeq Pharmacogenomics Panel using 28 samples with known diplotypes.
- Evaluation of accuracy, sensitivity, specificity, PPV, NPV, and reproducibility.
- Development and application of the BIH-protocol bioinformatics pipeline.
Main Results:
- The panel demonstrated high accuracy (>96.77%), sensitivity (100%), specificity (>95.31%), PPV (>90.63%), NPV (100%), and reproducibility (>99.85%).
- The BIH-protocol pipeline ensured reliability and accuracy, even with complex genetic profiles.
- 100% precision and reliability were achieved for genetic variation detection.
Conclusions:
- The Ion AmpliSeq Pharmacogenomics Panel and BIH-protocol are precise and reliable for genetic variation detection.
- The validated panel is suitable for integration into routine clinical practice.
- This advancement supports the expansion of personalized medicine through pharmacogenomics.
