Fig. 4: Summary of the findings for pharmacogenes in the HKGP Chinese cohort (n = 18,257).
From: Population-scale genomic medicine with the Hong Kong Genome Project
a, Comparison of altered-function allele frequencies between the HKGP Chinese cohort and the CPIC population with maximum sample size (CPIC maximum population). Altered-function alleles are defined as those with functional differences compared with the CPIC guideline recommendations. Dot shapes denote the CPIC maximum populations; colors indicate fold changes in allele frequencies relative to those of the HKGP. The shaded area, corresponding to the error bands, is defined as the region where allele frequency differences between HKGP and CPIC are less than 0.05. Compared with the CPIC maximum population, the HKGP Chinese cohort presented differences in the frequencies of altered functional alleles across multiple genes. b, Proportion of HKGP Chinese individuals with actionable pharmacogenomic phenotypes across pharmacogenes classified as level 1 in PharmGKB’s clinical annotations. A high proportion of HKGP Chinese individuals carried actionable phenotypes for different pharmacogenes, indicating substantial genetic variability with potential clinical impact. c, Distribution of the number of actionable pharmacogenes per individual in the HKGP Chinese cohort. Each HKGP participant carried an average of 5.2 actionable pharmacogenomic phenotypes, with individual counts ranging from 0 to 13. d, Comparison of altered-function allele frequencies in HKGP Chinese individuals with the AMP-recommended tier 1 and tier 2 allele sets. The AMP tier 1 and tier 2 allele sets comprehensively capture CPIC-defined altered-function alleles in 10 pharmacogenes, whereas coverage remains incomplete for others. e, Estimated numbers of actionable and non-actionable prescriptions in Hong Kong in 2024. Predictions were made by multiplying total prescription counts by the frequencies of actionable phenotypes. Actionable phenotypes are predicted to affect nearly 0.9 million prescriptions (30.8% of total) for the 12 most frequently prescribed pharmacogenomic drugs in Hong Kong in 2024. max, maximum.
