Husna Rahim, PharmD & Kate Choy-Kay Lee
Exploring Genetic Variations in Drug Metabolism. How do genetic variations influence drug metabolism and patient response to therapy? Genetic variations, also known as polymorphisms, can significantly affect how an individual metabolizes drugs (Yu 2021). Healthcare providers can use these interindividual differences to personalize medication dosage and selection, and prevent adverse reactions.
CYP2D6 and CYP2C9 account for majority of drug metabolism. Pharmacogenomic (PGx) testing is key to guiding drug dosage selection. Variations in the CYP2C19 and CYP2D6 enzymes influence the metabolism of numerous medications and account for differences in interindividual drug concentration levels. Different enzyme activity levels classify individuals as poor, intermediate, extensive, or ultra-rapid metabolizers. Poor metabolizers may experience higher drug concentrations and increased risk of adverse effects, while ultra-rapid metabolizers may have lower drug concentrations and reduced therapeutic efficacy (Lam, Guiterrez, Shah 2024). PGx testing can help determine an individual’s metabolizer status and guide appropriate dosing strategies.
PGx-informed drug selection. Understanding genetic variations influencing drug responses enables healthcare professionals to make more informed decisions in selecting drug therapy. According to the National Center for Biotechnology Information (NCBI), genetic polymorphisms impact the expression and function of drug targets, such as receptors and enzymes, resulting in variable drug responses (2021). Thus, genes encoding transporters can dictate drug concentration at the target sites and influence therapeutic outcomes (Kirchmair 2015).
Predicting variations in drug metabolism also allows for the reduction of potential adverse effects. For example, patients with reduced function variants of the TPMT gene are at an increased risk of toxicity from thiopurines used in immune suppression because they cannot effectively clear the drug’s active metabolites (Relling 2015). Healthcare professionals, however, can divert adverse reactions by identifying patients with TPMT gene variations.
Diverting adverse drug reactions. Leveraging PGx in predicting drug metabolism can significantly enhance patient care by tailoring medications to individual genetic profiles. As the scientific and medical communities continue to unlock the genetic information hidden within our DNA, PGx remains an essential tool in shaping the future of personalized medicine.
Learn more about UGenome’s Personalized Medication Service, ProPEx, or contact UGenome. You can also find case studies for UGenome’s bioinformatics services Metabolite Identification, Bone Metastasis Risk Analysis in Breast Cancer, Survival Analysis with gene signatures in cancer
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