Comprehensive characterization of pharmacogenes in a Taiwanese Han population

Pharmacogenetic (PGx) testing has not been well adopted in current clinical practice. The phenotypic distribution of clinically relevant pharmacogenes remains to be fully characterized in large population cohorts. In addition, no study has explored actionable PGx alleles in the East Asian population at a large scale. This study comprehensively analyzed 14 actionable pharmacogene diplotypes and phenotypes in 172,854 Taiwanese Han individuals by using their genotype data. Furthermore, we analyzed data from electronic medical records to investigate the effect of the actionable phenotypes on the individuals. The PGx phenotype frequencies were comparable between our cohort and the East Asian population. Overall, 99.9% of the individuals harbored at least one actionable PGx phenotype, and 29% of them have been prescribed a drug to which they may exhibit an atypical response. Our findings can facilitate the clinical application of PGx testing and the optimization of treatment and dosage individually.

Automated summary

Pharmacogenetic testing has not been widely used in clinical practice, and the distribution of clinically relevant pharmacogenes in large population cohorts, particularly in East Asians, has not been fully characterized. In this study, the authors comprehensively analyzed 14 actionable pharmacogene diplotypes and phenotypes in a large sample of Taiwanese Han individuals. Their findings showed comparable pharmacogenetic phenotype frequencies between their cohort and the East Asian population. Nearly all individuals (99.9%) had at least one actionable pharmacogenetic phenotype, and a significant proportion of them (29%) had been prescribed drugs that may cause atypical responses. These findings have implications for the clinical application of pharmacogenetic testing and individualized treatment optimization.