ArticlePLoS genetics2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Article in PLoS genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed.
- Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience.Molecular genetics & genomic medicine · 2026Article
- A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong.Journal of human genetics · 2025Review
- Pharmacogenomic testing implementation: Tertiary care center experience and results of a pilot of 512 patients.Genetics in medicine open · 2025Article
- Pharmacogenetics: Opportunities for theAnnual review of pharmacology and toxicology · 2025Review
- Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population.Human genomics · 2024Review
- Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia.Human genetics · 2024Article
- CYP2C19 gene polymorphism in Ningxia.Pharmacological reports : PR · 2023Article
- A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.Pharmaceutics · 2023Article
- A retrospective analysis of preemptive pharmacogenomic testing in 22,918 individuals from China.Journal of clinical laboratory analysis · 2023Article
- Article
- Antiplatelet Therapy Aims and Strategies in Asian Patients with Acute Coronary Syndrome or Stable Coronary Artery Disease.Journal of clinical medicine · 2022Review
- Analysis of clinically relevant variants from ancestrally diverse Asian genomes.Nature communications · 2022Article
- Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.NPJ genomic medicine · 2022Article
- HKG: an open genetic variant database of 205 Hong Kong cantonese exomes.NAR genomics and bioinformatics · 2022Article
- Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.NPJ genomic medicine · 2022Article
- Pharmacogenes that demonstrate high association evidence according to CPIC, DPWG, and PharmGKB.Frontiers in medicine · 2022Article
- Systematic Review of Pharmacogenetic Factors That Influence High-Dose Methotrexate Pharmacokinetics in Pediatric Malignancies.Cancers · 2021Review
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Authors and funding
23 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Preemptive pharmacogenetic testing has the potential to improve drug dosing by providing point-of-care patient genotype information. Nonetheless, its implementation in the Chinese population is limited by the lack of population-wide data. In this study, secondary analysis of exome sequencing data was conducted to study pharmacogenomics in 1116 Hong Kong Chinese. We aimed to identify the spectrum of actionable pharmacogenetic variants and rare, predicted deleterious variants that are potentially actionable in Hong Kong Chinese, and to estimate the proportion of dispensed drugs that may potentially benefit from genotype-guided prescription. The projected preemptive pharmacogenetic testing prescription impact was evaluated based on the patient prescription data of the public healthcare system in 2019, serving 7.5 million people. Twenty-nine actionable pharmacogenetic variants/ alleles were identified in our cohort. Nearly all (99.6%) subjects carried at least one actionable pharmacogenetic variant, whereas 93.5% of subjects harbored at least one rare deleterious pharmacogenetic variant. Based on the prescription data in 2019, 13.4% of the Hong Kong population was prescribed with drugs with pharmacogenetic clinical practice guideline recommendations. The total expenditure on actionable drugs was 33,520,000 USD, and it was estimated that 8,219,000 USD (24.5%) worth of drugs were prescribed to patients with an implicated actionable phenotype. Secondary use of exome sequencing data for pharmacogenetic analysis is feasible, and preemptive pharmacogenetic testing has the potential to support prescription decisions in the Hong Kong Chinese population.
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