Royal Dutch Pharmacists Association (KNMP), The Hague, The Netherlands.
Pharmacy Boterdiep, Groningen, The Netherlands.
Eur J Hum Genet. 2023 Dec;31(12):1364-1370. doi: 10.1038/s41431-022-01262-z. Epub 2022 Dec 12.
Pharmacogenetics (PGx) studies the effect of heritable genetic variation on drug response. Clinical adoption of PGx has remained limited, despite progress in the field. To promote implementation, the Dutch Pharmacogenetics Working Group (DPWG) develops evidence-based guidelines on how to optimize pharmacotherapy based on PGx test results. This guideline describes optimization of atomoxetine therapy based on genetic variation in the CYP2D6 gene. The CYP2D6 enzyme is involved in conversion of atomoxetine into the metabolite 4-hydroxyatomoxetine. With decreasing CYP2D6 enzyme activity, the exposure to atomoxetine and the risk of atomoxetine induced side effects increases. So, for patients with genetically absent CYP2D6 enzyme activity (CYP2D6 poor metabolisers), the DPWG recommends to start with the normal initial dose, bearing in mind that increasing this dose probably will not be required. In case of side effects and/or a late response, the DPWG recommends to reduce the dose and check for sustained effectiveness for both poor metabolisers and patients with genetically reduced CYP2D6 enzyme activity (CYP2D6 intermediate metabolisers). Extra vigilance for ineffectiveness is required in patients with genetically increased CYP2D6 enzyme activity (CYP2D6 ultra-rapid metabolisers). No interaction was found between the CYP2D6 and COMT genes and methylphenidate. In addition, no interaction was found between CYP2D6 and clonidine, confirming the suitability of clonidine as a possible alternative for atomoxetine in variant CYP2D6 metabolisers. The DPWG classifies CYP2D6 genotyping as being "potentially beneficial" for atomoxetine. CYP2D6 testing prior to treatment can be considered on an individual patient basis.
药物遗传学(PGx)研究遗传变异对药物反应的影响。尽管该领域取得了进展,但 PGx 的临床应用仍然有限。为了促进实施,荷兰药物遗传学工作组(DPWG)制定了基于 PGx 测试结果优化药物治疗的循证指南。本指南描述了基于 CYP2D6 基因遗传变异优化阿托西汀治疗的方法。CYP2D6 酶参与将阿托西汀转化为代谢物 4-羟基阿托西汀。随着 CYP2D6 酶活性的降低,阿托西汀的暴露和阿托西汀引起的副作用的风险增加。因此,对于 CYP2D6 酶活性遗传缺失(CYP2D6 弱代谢者)的患者,DPWG 建议起始使用正常初始剂量,但要记住,增加该剂量可能不是必需的。如果出现副作用和/或反应延迟,DPWG 建议减少剂量,并检查持续有效性,无论是弱代谢者还是 CYP2D6 酶活性遗传降低的患者(CYP2D6 中间代谢者)。对于 CYP2D6 酶活性遗传增加(CYP2D6 超快代谢者)的患者,需要特别注意无效。尚未发现 CYP2D6 和 COMT 基因与哌甲酯之间存在相互作用。此外,还发现 CYP2D6 与可乐定之间没有相互作用,这证实了可乐定作为 CYP2D6 变异代谢物中阿托西汀的可能替代药物的适用性。DPWG 将 CYP2D6 基因分型归类为阿托西汀的“潜在有益”。可以考虑根据患者个体情况在治疗前进行 CYP2D6 检测。