Roelofsen Anja H A, Kreeftenberg Loes Lindiwe, van El Carla G, Henneman Lidewij, Rigter Tessel, Sie Daoud, Bet Pierre M, Cornel Martina C
Department of Human Genetics, Amsterdam UMC, location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Amsterdam Public Health Research Institute, Amsterdam, the Netherlands.
Pharmacogenomics. 2025 Apr-Apr;26(5-6):143-156. doi: 10.1080/14622416.2025.2504862. Epub 2025 May 21.
BACKGROUND: Pharmacogenetics uses individuals' genetic profiles to optimize drug treatment and prevent adverse reactions. One strategy to obtain information on pharmacogenes is to reuse sequencing data for a pharmacogenetic passport, providing information preemptively to healthcare professionals for utilization throughout a patient's lifetime. AIM: To explore stakeholders' perceived barriers and facilitators and future perspectives of implementing a pharmacogenetic passport based on experiences from reusing sequencing data, in a Dutch University Medical Center. METHODS: Semi-structured interviews were conducted among 21 stakeholders. Interviews were analyzed using thematic analysis, and themes were grouped under the constructs of structure, culture, and practice. RESULTS: Perceived implementation barriers included inadequate data infrastructure, limited knowledge of pharmacogenetics, lack of (visible) guidelines, unequal access, unclear division of tasks and unclear procedures, and other hospital priorities. Perceived facilitators included the ease, efficiency, and affordability to obtain pharmacogenetic test results from reused sequencing data, stakeholders' positive attitudes about patient impacts of a pharmacogenetic passport, and that patient control of their health data is provided. CONCLUSION: When considering the implementation of a pharmacogenetic passport, strategies can be developed to diminish barriers and strengthen facilitators. It is important to focus on data infrastructure, (visibility of) guidelines, clear division of tasks, and pharmacogenetic education.
背景:药物遗传学利用个体的基因图谱来优化药物治疗并预防不良反应。获取药物基因信息的一种策略是重新利用测序数据生成药物遗传护照,提前向医疗保健专业人员提供信息,以便在患者的一生中加以利用。 目的:基于荷兰一家大学医学中心重新利用测序数据的经验,探讨利益相关者对实施药物遗传护照的感知障碍、促进因素及未来展望。 方法:对21名利益相关者进行了半结构化访谈。采用主题分析法对访谈进行分析,并将主题归类于结构、文化和实践等架构之下。 结果:感知到的实施障碍包括数据基础设施不足、药物遗传学知识有限、缺乏(明确的)指南、获取机会不平等、任务分工不明确和程序不清晰,以及医院的其他优先事项。感知到的促进因素包括从重新利用的测序数据中获取药物遗传学检测结果的便利性、效率和可承受性,利益相关者对药物遗传护照对患者影响的积极态度,以及患者对其健康数据的控制权。 结论:在考虑实施药物遗传护照时,可以制定策略来减少障碍并加强促进因素。关注数据基础设施、(指南的)明确性、清晰的任务分工和药物遗传学教育非常重要。
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