Pop Cristina, Curici Antoanela, Voștinaru Oliviu, Apan Anamaria, Piciu Andra, Silaghi Cristina Alina, Silaghi Horatiu, Popa Stefan Lucian, Dorobanțu Florica Ramona, Mogoșan Cristina
Pharmacology, Physiology and Pathophysiology, Department 2-Pharmacy, Faculty of Pharmacy, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400347 Cluj-Napoca, Romania.
Morphologic Sciences II, Cellular and Molecular Biology and Histology, Faculty of Medicine, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Pharmaceuticals (Basel). 2025 Jun 16;18(6):898. doi: 10.3390/ph18060898.
Pharmacogenetic testing aims to assess the existence of a genetic predisposition that could influence the efficacy or safety of pharmacotherapy. The objective of the present study was to offer a descriptive analysis of the results of the pharmacogenetic tests carried out between 2017 and 2023 within the Synevo laboratories, a provider of medical testing with national expansion. To carry out this analysis, data on the following tests offered by the Synevo laboratories were evaluated: CYP2D6, CYP2C9, CYP2C19, TPMT (thiopurine S-methyltransferase), and factor V Leiden. For each type of test, information was collected on the demographics of the patients tested, as well as the genotyping test result. Data were statistically analyzed and interpreted. In total, 31.453 pharmacogenetic tests were performed in the considered time interval. Most patients for whom pharmacogenetic testing was performed were women (80%), and as for the age range, patients between 31 and 40 years old (45%) and those between 19 and 30 years old (38%) predominated. In the evaluated sample, genetic variants associated with a potential risk of influencing pharmacotherapy could be identified in a proportion of 56% for the CYP2D6 gene, 41% for the CYP2C9 gene, 52% for the CYP2C19 gene, 12% for the TPMT gene, and 16% for factor V Leiden. Pharmacogenetic tests can provide useful information to clinicians in order to personalize pharmacotherapy. Although the interest of medical professionals in these tests is increased, there are currently several impediments to the prescription and routine clinical implementation of pharmacogenetic testing.
药物遗传学检测旨在评估是否存在可能影响药物治疗疗效或安全性的遗传易感性。本研究的目的是对2017年至2023年期间在Synevo实验室（一家业务在全国范围内扩展的医学检测机构）进行的药物遗传学检测结果进行描述性分析。为了进行这项分析，对Synevo实验室提供的以下检测数据进行了评估：CYP2D6、CYP2C9、CYP2C19、硫嘌呤甲基转移酶（TPMT）和凝血因子V莱顿突变。对于每种检测类型，收集了接受检测患者的人口统计学信息以及基因分型检测结果。对数据进行了统计分析和解读。在考虑的时间间隔内，总共进行了31453次药物遗传学检测。接受药物遗传学检测的大多数患者为女性（80%），就年龄范围而言，31至40岁的患者（45%）和19至30岁的患者（38%）占主导。在评估样本中，对于CYP2D6基因，可在56%的比例中鉴定出与影响药物治疗潜在风险相关的基因变异；对于CYP2C9基因，为41%；对于CYP₂C19基因，为52%；对于TPMT基因，为12%；对于凝血因子V莱顿突变为16%。药物遗传学检测可为临床医生提供有用信息，以便实现药物治疗的个性化。尽管医学专业人员对这些检测的兴趣有所增加，但目前药物遗传学检测的处方和常规临床应用存在若干障碍。
