Health, Medical, and Neuropsychology Unit, Institute of Psychology, Faculty of Social and Behavioural Sciences, Leiden University, Wassenaarseweg 52, 2333 AK Leiden, The Netherlands.
Department of Psychiatry, University of Groningen, University Medical Centre Groningen, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.
Genes (Basel). 2023 Mar 24;14(4):786. doi: 10.3390/genes14040786.
Ongoing health challenges, such as the increased global burden of chronic disease, are increasingly answered by calls for personalized approaches to healthcare. Genomic medicine, a vital component of these personalization strategies, is applied in risk assessment, prevention, prognostication, and therapeutic targeting. However, several practical, ethical, and technological challenges remain. Across Europe, Personal Health Data Space (PHDS) projects are under development aiming to establish patient-centered, interoperable data ecosystems balancing data access, control, and use for individual citizens to complement the research and commercial focus of the European Health Data Space provisions. The current study explores healthcare users' and health care professionals' perspectives on personalized genomic medicine and PHDS solutions, in casu the Personal Genetic Locker (PGL). A mixed-methods design was used, including surveys, interviews, and focus groups. Several meta-themes were generated from the data: (i) participants were interested in genomic information; (ii) participants valued data control, robust infrastructure, and sharing data with non-commercial stakeholders; (iii) autonomy was a central concern for all participants; (iv) institutional and interpersonal trust were highly significant for genomic medicine; and (v) participants encouraged the implementation of PHDSs since PHDSs were thought to promote the use of genomic data and enhance patients' control over their data. To conclude, we formulated several facilitators to implement genomic medicine in healthcare based on the perspectives of a diverse set of stakeholders.
目前存在一些实际的、伦理的和技术方面的挑战。在整个欧洲，个人健康数据空间（PHDS）项目正在开发中，旨在建立以患者为中心、可互操作的数据生态系统，平衡个人公民的数据访问、控制和使用，以补充欧洲健康数据空间规定的研究和商业重点。本研究探讨了医疗保健用户和医疗保健专业人员对个性化基因组医学和 PHDS 解决方案（即个人遗传库（PGL））的看法。采用了混合方法设计，包括调查、访谈和焦点小组。从数据中生成了几个元主题：（i）参与者对基因组信息感兴趣；（ii）参与者重视数据控制、稳健的基础设施以及与非商业利益相关者共享数据；（iii）自主性是所有参与者关注的核心；（iv）机构和人际信任对基因组医学非常重要；（v）参与者鼓励实施 PHDS，因为 PHDS 被认为可以促进基因组数据的使用，并增强患者对其数据的控制。总之，我们根据一组多样化的利益相关者的观点，制定了实施基因组医学的几个促进因素。
