Validation of a multi-gene qPCR-based pharmacogenomics panel across major ethnic groups in Singapore and Indonesia

Pharmacogenomics. 2021 Nov;22(16):1041-1056. doi: 10.2217/pgs-2021-0071. Epub 2021 Oct 25.

Abstract

Aim: The clinical utility of pharmacogenomics (PGx) has been gaining traction alongside growing evidence that adverse drug reactions (ADRs) have significant genetic associations. Nala PGx Core® is a multi-gene qPCR-based panel of 20 allele variants, comprising 18 SNPs and two CYP2D6 copy number markers across four pharmacogenes - CYP2C9, CYP2C19, CYP2D6 and SLCO1B1. Methods: In this study, we validated the performance of Nala PGx Core® against benchmark methods, on the Singaporean and Indonesian populations. Results & conclusion: Nala PGx Core® demonstrated robust and accurate genotyping when compared with other established benchmarks. Furthermore, the panel successfully characterized alleles of clinical relevance, such as CYP2D6*10 and CYP2D6*36, across major ethnic groups present of Singapore and Indonesia, suggesting its potential for adoption in clinical workflows regionally.

Keywords: CYP2C19; CYP2C9; CYP2D6; SLCO1B1; Southeast Asia; adverse drug reactions; genetic associations; genomic DNA; molecular diagnostics.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Algorithms
  • Asian People
  • Benchmarking
  • Cytochrome P-450 CYP2C19
  • Cytochrome P-450 CYP2D6 / genetics
  • Drug-Related Side Effects and Adverse Reactions / genetics
  • Ethnicity
  • Gene Dosage
  • Genotype
  • Humans
  • Indonesia
  • Pharmacogenetics / methods*
  • Polymerase Chain Reaction / standards*
  • Polymorphism, Single Nucleotide
  • Reproducibility of Results
  • Singapore

Substances

  • Cytochrome P-450 CYP2C19
  • Cytochrome P-450 CYP2D6