Proof-of-concept development of a cost-effective PACE-based assay for CYP2C19 genotyping

This is the authors' abstract. We don't add key points for this paper.

Background: Pharmacogenomic testing of the CYP2C19 gene is a fundamental component of precision medicine, enabling personalized dose adjustments for critical medications, including antiplatelet agents and antidepressants. However, the high cost of currently available commercial genotyping kits creates a financial burden that limits patient accessibility to these essential tests. Objectives: This study aimed to preliminarily develop and analytically evaluate a novel PCR Allelic Competitive Extension (PACE) assay for genotyping CYP2C19*2, *3, and *17. Materials and methods: Thirty DNA samples extracted from buffy coat were analyzed using specifically designed allele-specific primers for CYP2C19*2, *3, and *17. The genotyping results were reported as zygosity status and evaluated for concordance with the TaqManTM Drug Metabolism Genotyping Assay. Results: The analysis identified *1/*1 (53.3%), *1/*2 (30.0%), *1/*3 (10.0%), and *2/*2 (6.7%) genotypes, while the allele frequencies were 73.3% for *1, 21.7% for *2, 5.0% for *3, and 0% for *17. The results from the PACE technique demonstrated 100% concordance with those obtained from the commercial TaqManTM assay and produced clear, well-separated data points in the allelic discrimination plot analysis. Conclusion: The novel PACE technique provides high accuracy, equivalent to commercially available test kits, while offering a more cost-effective approach, with a reagent cost of only USD 4.34 (135 Thai baht) per sample for CYP2C19*2, *3, and *17 genotyping. It represents an alternative to CYP2C19 genotyping, supporting the advancement of personalized medicine and reducing the longterm financial burden on healthcare.