Pharmacogenetics in clinical practice: a systematic review
DOI:
https://doi.org/10.62451/rep.v4i3.206Keywords:
Pharmacogenetics, precision medicine, personalized dosing, therapeutic efficacy, omic sciencesAbstract
Pharmacogenetics is a key omics discipline within precision personalized medicine that aims to analyze genetic variability to optimize drug therapy. This study sought to describe the main clinical applications and actionability of gene–drug pairs supported by the highest level of scientific evidence. A qualitative systematic review was conducted following the PRISMA statement, considering the recommendations and guidelines developed by the Clinical Pharmacogenetics Implementation Consortium (CPIC), the Dutch Pharmacogenetics Working Group (DPWG), and the PharmGKB database. The review identified 50 pharmacogenes with high clinical evidence associated with the optimization of 152 medications used in cardiology, psychiatry, oncology, infectious diseases, and other medical specialties. The principal clinical applications include the precise selection of medications, individualized adjustment of initial and maintenance doses through Activity Scores, identification of therapeutic failures associated with ultrarapid metabolizer phenotypes, and support for the preclinical development of novel molecular targets. The reviewed evidence also highlights the advantages of preemptive genotyping over the traditional trial-and-error prescribing approach, although challenges remain regarding the phenotypic standardization of certain alleles and the limited representation of ethnic diversity in commercial pharmacogenetic panels. Overall, the findings indicate that the systematic integration of pharmacogenetics into clinical practice, supported by clinical decision-support systems, promotes the transition from reactive prescribing to a predictive, precise, and personalized therapeutic strategy.
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