Díaz-Villamarín Xando, Martínez-Pérez María, Nieto-Sánchez María Teresa, Fernández-Varón Emilio, Torres-García Alicia, Blancas Isabel, Cabeza-Barrera José, Morón Rocío
Instituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granda, Spain.
Hospital Pharmacy, Hospital Universitario San Cecilio, 18016 Granada, Spain.
J Pers Med. 2025 Jun 10;15(6):245. doi: 10.3390/jpm15060245.
The clinical implementation of pharmacogenetics (PGx) remains limited, even for well-established drug-gene interactions. In addition to insufficient infrastructure and PGx education among healthcare professionals, there is currently no consensus regarding which genetic variants should be tested, the most appropriate testing approach (e.g., single-gene vs. multi-gene panels), or how to translate genotypes into actionable therapeutic recommendations. We describe the implementation of PGx in real daily clinical routine at a single institution to guide other centers. We analyze the drug-gene interactions and genetic variants included in our program based on allelic, genotypic, and phenotypic frequencies, resulting therapeutic recommendations. Linkage disequilibrium and haplotype analyses are also performed. PGx testing was primarily requested by the oncology department. Not all variants included in typical panels had clinical utility in our setting. We do not recommend testing prior to clopidogrel prescription, as it does not translate into a dosing recommendation. may be considered just to confirm due to its linkage with *3C. Similarly, we do not recommend the routine testing of prior to siponimod prescription, as it does not inform therapeutic decisions according to the current drug label.
药物基因组学(PGx)在临床中的应用仍然有限,即使是对于已确立的药物-基因相互作用也是如此。除了医疗保健专业人员的基础设施不足和PGx教育欠缺之外,目前对于应检测哪些基因变异、最合适的检测方法(例如,单基因检测与多基因检测板),或者如何将基因型转化为可操作的治疗建议,尚无共识。我们描述了在单一机构的实际日常临床实践中PGx的应用情况,以指导其他中心。我们根据等位基因、基因型和表型频率、由此产生的治疗建议,分析了我们项目中包含的药物-基因相互作用和基因变异。还进行了连锁不平衡和单倍型分析。PGx检测主要由肿瘤科提出。并非典型检测板中包含的所有变异在我们的环境中都具有临床实用性。我们不建议在开具氯吡格雷处方前进行检测,因为它无法转化为剂量建议。由于其与*3C的连锁关系,可能仅考虑进行检测以确认。同样,我们不建议在开具西尼莫德处方前常规检测,因为根据当前的药物标签,它无法为治疗决策提供信息。