A retrospective analysis of preemptive pharmacogenomic testing in 22,918 individuals from China

FIGURE 1. Clustering analysis and geographic distribution. (A) Clustering result with mutant allele frequencies. horizontal axis coordinates of the heatmap are allele loci, and the vertical axis coordinates are different provinces. The scale label is in the upper right corner, from 0 to 1 by color from blue to red. After clustering, 20 provinces were divided into three groups. (B) Geographical distribution. The sample size of each province was shown in the circles. The larger the diameter of the circle, the larger the sample size. Provinces were colored according to the clustering result in (A), which is marked in blue, pink, and yellow. (C) Principal component analysis (PCA) result with mutant allele frequencies. PCA was performed with mutant allele frequencies of 20 provinces and five populations of the 1000 Genomes Project including CHB (Han Chinese in Beijing, China), CHS (Han Chinese South, China), CDX (Chinese Dai in Xishuangbanna, China), KHV (Kinh in Ho Chi Minh City, Vietnam), and JPT (Japanese in Tokyo, Japan). In this figure, a point represents a province or a population of the 1000 Genomes Project. Points of 20 provinces were marked in blue, pink, and yellow, based on the…

FIGURE 2. Distribution of number of genes with actionable genotypes and number of drugs with atypical therapeutic recommendations. The horizontal axis represents the number of genes with actionable genotypes or the number of drugs with atypical therapeutic recommendations. The vertical axis represents the number of samples. The blue line graph represents the number of samples corresponding to different numbers of genes with actionable genotypes. The orange histogram represents the number of samples corresponding to different numbers of genes with atypical therapeutic recommendations.

FIGURE 3. CPIC recommendations for 31 drugs based on the 15 genes included in this study. On the left side of the figure is the drug name. On the right side is the proportion of four types of CPIC recommendations, and the corresponding proportions were marked on the columns. CPIC recommendations include alternative drug, decreased dosage, increased dosage, and normal dosage. CPIC, Clinical Pharmacogenetics Implementation Consortium.

FIGURE 4. Distribution of high‐risk ratios in different provinces. The heatmap shows the RRs of the high‐risk ratio of each drug in each province. The value on each grid is the RR of a drug in each province, and each grid is filled with a color according to the scale label. On the left side of the heatmap is the scale label. Numbers range from 0 to 24 on the scale label represented by colors from green to red. The gray grid indicates the RR is 0. The right side of the heat map is the drug list and the high‐risk ratios in all provinces.