School of Engineering and CIETI, Porto Polytechnic (P. Porto), 4249-015 Porto, Portugal.
Institute of Bioethics, Portuguese Catholic University, 4169- 005 Porto, Portugal.
Medicina (Kaunas). 2019 Jul 5;55(7):344. doi: 10.3390/medicina55070344.
Tamoxifen is a drug that is often used in the clinical management of breast cancer. CYP2D6 is a key metabolizing enzyme that is involved in the conversion of tamoxifen to its active drug metabolites. CYP2D6 has several alleles that metabolize tamoxifen and other drugs at different rates that can alter therapeutic impact, a characteristic that renders it one of the most studied enzymes in the field of pharmacogenetics. : Portugal has no implemented measures based on pharmacogenomics analysis prior to therapy that might function as a cultural sample control when analyzing the individual and economic factors present in clinical practice paradigms. Therefore, we aim to investigate the impact of CYP2D6 genotyping of the tamoxifen metabolizing enzymes in the clinical management of breast cancer patients. : Qualitative/quantitative studies regarding the impact of pharmacogenomics in breast cancer; personal interviews in different Portuguese laboratories within hospital setting using a survey. Analysis of data through interviews to management board and/or decision makers from major oncological centers. : Reasons for common adoption of pharmacogenomics practice are contradictory and based both in economic factors and cultural/clinical bias. : This research study identifies specific cultural and/or clinical bias that act as obstacles to pharmacogenomic implementation and proposes viable courses of action that might bring about change in cultural/medical habits.
他莫昔芬是一种常用于乳腺癌临床治疗的药物。CYP2D6 是一种关键的代谢酶，参与将他莫昔芬转化为其活性药物代谢物。CYP2D6 有几个等位基因，以不同的速度代谢他莫昔芬和其他药物，这可能会改变治疗效果，这种特性使其成为药物遗传学领域研究最多的酶之一。葡萄牙在治疗前没有实施基于药物基因组学分析的措施，这可能是在分析临床实践模式中存在的个体和经济因素时作为文化样本控制的一种手段。因此，我们旨在研究 CYP2D6 基因分型对乳腺癌患者临床管理的影响。关于药物基因组学在乳腺癌中的影响的定性/定量研究；在医院环境中使用调查在不同的葡萄牙实验室进行个人访谈。通过对主要肿瘤中心的管理委员会和/或决策者进行访谈来分析数据。药物基因组学实践的常见采用原因存在矛盾，既基于经济因素，也基于文化/临床偏见。这项研究确定了特定的文化和/或临床偏见，这些偏见是药物基因组学实施的障碍，并提出了可行的行动方案，可能会改变文化/医疗习惯。
