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3. Pharmacogenetics: the science of predictive clinical pharmacology

Pharmacogenetics: the science of predictive clinical pharmacology
Pages 14-31
Anthony Fenech and Godfrey Grech


The study of pharmacogenetics has expanded from what were initially casual family-based clinical drug response observations, to a fully-fledged science with direct therapeutic applications, all within a time-span of less than 60 years. A wide spectrum of polymorphisms, located within several genes, are now recognised to influence the pharmacokinetics and pharmacodynamics of the majority of drugs within our therapeutic armamentarium. This information forms the basis for the new development of pharmacogenetic genotyping tests, which can be used to predict the therapeutic and/or adverse effects of a specific drug in a particular patient. Pharmacogenetic-guided, patient targeted therapy has now become the developing fulcrum of personalized medicine, as it provides the best means to optimize benefit/risk ratio in pharmacological management.


  • Genetic variability may modify the pharmacokinetics and/or pharmacodynamics of a drug.
  • Both germ-line and somatic variants have a role as predictive biomarkers of drug therapy.
  • Biomarker validation is necessary, for their application in patient-targeted therapy. 
  • Pharmacogenetic biomarkers may be population and ethnic group-dependent.
  • Large scale multifaceted initiatives towards translational pharmacogenetics are currently underway.

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