Show Notes
️ Episode 81: Clinical Impact of Pharmacogenetic Risk Variants in a Large Chinese Cohort
In this episode of PaperCast Base by Base, we explore a retrospective analysis of genetic and clinical data from the Taiwan Precision Medicine Initiative cohort to assess how actionable pharmacogenetic variants influence drug response and adverse events in nearly half a million Han Chinese individuals.
Study Highlights:
We performed a comprehensive survey of clinically actionable variants in 19 pharmacogenes affecting 58 commonly prescribed drugs and found that 99.9% of participants carried at least one actionable variant with an average of 4.3 variants per person.
Focusing on four gene-drug pairs—azathioprine (NUDT15/TPMT), clopidogrel (CYP2C19), statins (ABCG2/CYP2C9/SLCO1B1), and NSAIDs (CYP2C9)—we evaluated associations between genotype and risk for adverse events or treatment failure using longitudinal prescription and outcome data.
Although pharmacogenetic risk variants were significantly associated with increased odds of adverse events compared to non-carriers, the absolute excess risk was modest and the majority of variant carriers tolerated therapy without complications.
Our findings highlight that pharmacogenetics alone is not a definitive predictor of drug outcomes and underscore the importance of integrating genetic information with clinical factors to optimize personalized therapy.
Conclusion:
This study underscores the complexity of integrating pharmacogenetics into clinical practice and highlights the need for comprehensive, multifactorial strategies to optimize precision medicine across diverse populations.
Reference:
Wei C.-Y. et al. Clinical impact of pharmacogenetic risk variants in a large Chinese cohort. Nat. Commun. 16, 6344 (2025). https://doi.org/10.1038/s41467-025-61644-x
License:
This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/
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