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

Anar Sanjaykumar KotharyCaroline MahendraMingchen TanEunice Jia Min TanJacelyn Phua Hong Yinull GabriellaTan Xin Hui JocelynJessline Stephanie HarumanZhihao TanChun Kiat LeeAlexander LezhavaBenedict YanAstrid Irwanto
Published in: Pharmacogenomics (2021)
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.
Keyphrases
  • copy number
  • genome wide
  • adverse drug
  • mitochondrial dna
  • dna methylation
  • electronic health record
  • emergency department
  • gene expression
  • clinical decision support
  • transcription factor
  • mass spectrometry