Evidencia Terapia Génica y Farmacogenética en la Enfermedad de Huntington y sus implicaciones en la Atención Farmacéutica

Abstract

Abstract: The aim of this study was to conduct a systematic review of the scientific evidence on how genetics, pharmacogenetics, and pharmaceutical care can positively contribute to the management of monogenic neurogenetic disorders, particularly Huntington's disease. The PRISMA method was applied for the selection of files, resulting in 45 articles retrieved from PubMed, Google Scholar, Web of Science and Springer Nature. The findings on pharmacogenetics demonstrate that treatments can be optimized and individualized based on variations in the HTT gene and CYP2D6 gene genotyping, allowing for adjustments in neuroleptic drug dosages and preventing adverse reactions. Likewise, targeted gene therapies such as antisense oligonucleotides, RNA interference, viral vectors, and gene editing aim to modify disease progression by reducing the production of toxic mutant huntingtin (mHTT) protein. However, further evidence is still needed regarding their efficacy, safety, and long-term outcomes. Pharmaceutical care strengthens comprehensive management through pharmacotherapeutic monitoring, promotion of adherence, pharmacovigilance, and patient education, contributing to improved clinical outcomes and quality of life.