临床实践中综合药物基因组学多基因panel 的应用经验：一项回顾性单中心研究。
Experience with comprehensive pharmacogenomic multi-gene panel in clinical practice: a retrospective single-center study.
机构信息
Vid Matišić, St. Catherine Specialty Hospital, Branimirova 71E, 10000 Zagreb, Croatia,
出版信息
Croat Med J. 2022 Jun 22;63(3):257-264. doi: 10.3325/cmj.2022.63.257.
AIM
To assess the prevalence of actionable pharmacogenetic interventions in patients who underwent pharmacogenetic testing with a multi-gene panel.
METHODS
We retrospectively reviewed single-center electronic health records. A total of 319 patients were enrolled who underwent pharmacogenomic testing with the RightMed test panel using TaqMan quantitative real-time PCR method and copy number variation analysis to determine the SNPs in the 27 target genes.
RESULTS
Actionable drug-gene pairs were found in 235 (73.7%) patients. Relevant guidelines on genotype-based prescribing were available for 133 (56.7%) patients at the time of testing. Based on the patients' genotype, 139 (43.6%) patients were using at least one drug with significant pharmacogenetic interactions.
CONCLUSION
Two out of three patients had at least one drug-gene pair in their therapy. Further studies should assess the clinical effectiveness of integrating pharmacogenomic data into patients' electronic health records.
目的
评估在接受多基因panel 药物基因组学检测的患者中，可采取的药物遗传学干预措施的流行程度。
方法
我们回顾性地分析了单中心电子病历。共纳入 319 名患者，他们接受了 RightMed 检测面板的药物基因组学检测，该面板使用 TaqMan 定量实时 PCR 方法和拷贝数变异分析来确定 27 个目标基因中的 SNP。
结果
在 235 名（73.7%）患者中发现了可采取的药物-基因对。在检测时，有 133 名（56.7%）患者有相关的基于基因型的处方指南。根据患者的基因型，139 名（43.6%）患者正在使用至少一种具有显著药物遗传学相互作用的药物。
结论
三分之二的患者的治疗中至少有一种药物-基因对。进一步的研究应该评估将药物基因组学数据整合到患者的电子病历中的临床效果。
Zotero 插件