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Updated: Feb 25, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Clinical applications of pharmacogenomics
Luis Quiñones1, Ángela Roco1, Juan P Cayún1
1Laboratorio de Carcinogénesis Química y Farmacogenética, Departamento de Oncología Básico Clínica, Facultad de Medicina, Universidad de Chile, Santiago, Chile, lquinone@med.uchile.cl.
Abstract:
Pharmacogenomics is an emergent field aimed at tailoring pharmacological therapy. Genetic polymorphisms can modify the expression and function of enzymes and proteins involved in drug metabolism, affecting absorption, distribution, biotransformation and excretion as well as the drug-target interaction. Therefore, the presence of allelic variants will classify people as poor, extensive or rapid/ultra rapid metabolizers, modifying drug efficacy and safety. In this work, the state of art in relation to this discipline is presented and the genetic variants of enzymes that are involved in drug pharmacokinetics or pharmacodynamics are described. The effects of these variants on the therapeutic response to drugs used in our country are also discussed.
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