UMR1231 GAD team, Genetics of Developmental Disorders, Inserm - université Bourgogne-Franche Comté, 21000 Dijon, France; Unité fonctionnelle innovation en diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU de Dijon Bourgogne, 21000 Dijon, France.
Centre d'investigation clinique, module épidémiologie clinique/essais cliniques, CHU de Dijon, 21000 Dijon, France; Inserm CIC1432, 21000 Dijon, France.
Therapie. 2024 May-Jun;79(3):341-349. doi: 10.1016/j.therap.2023.07.002. Epub 2023 Jul 17.
Although French genomic medicine is reaching a turning point in its history and the implementation of genome sequencing in routine is being implemented as part of the France Genomic Medicine 2025 Plan (FGMP), many questions about secondary data management remain to be addressed. In particular, the use of pharmacogenetic (PGx) information that can be extracted from genome data is a concern. We sought to analyze the opinion of French health professionals on their desire to have access to this information. For this purpose, we created a 22-item questionnaire on the experiences, attitudes, expectations, and knowledge of French physicians and pharmacists about PGx. We collected the responses in different groups and determined a knowledge score with the last 3 questions of the questionnaire. Then, we built a prediction model for this score and determined which factors may influence it. Half of the responders were physicians (158/311) and the other half were pharmacists (153/311), and the majority of them worked in a hospital (265/311). Almost two third (62.7%, 195/311) of the responders thought that pharmacogenetic data should be communicated with genomic results for the primary indication within the framework of FGMP, and 89.1% (277/311) of them that PGx tests could be an interesting tool to optimize patients' drug therapy in the future. Only 11.2% (35/311) of the responders reached the maximum knowledge score, while 25.4% (76/311) had already prescribed or recommended a PGx test. This study identified a need for training for French physicians and pharmacists in PGx, particularly given the interest of health professionals in it.
尽管法国基因组医学在其历史上正处于一个转折点，并且作为《法国基因组医学 2025 计划》（FGMP）的一部分，正在实施基因组测序的常规应用，但关于二级数据管理的许多问题仍有待解决。特别是，从基因组数据中提取的药物遗传学（PGx）信息的使用是一个关注点。我们试图分析法国卫生专业人员对获取这些信息的意愿。为此，我们针对法国医生和药剂师对 PGx 的经验、态度、期望和知识，创建了一个包含 22 个问题的问卷。我们在不同的群体中收集了这些回复，并使用问卷的最后 3 个问题确定了一个知识得分。然后，我们为这个得分建立了一个预测模型，并确定了哪些因素可能会影响它。一半的回复者是医生（158/311），另一半是药剂师（153/311），其中大多数人在医院工作（265/311）。将近三分之二（62.7%，195/311）的回复者认为，在 FGMP 的框架内，PGx 数据应该与基因组结果一起用于主要适应症的沟通，而 89.1%（277/311）的回复者认为 PGx 测试在未来可能是优化患者药物治疗的一个有趣工具。只有 11.2%（35/311）的回复者达到了最高的知识得分，而 25.4%（76/311）的回复者已经开出或推荐了 PGx 测试。这项研究发现，法国医生和药剂师在 PGx 方面需要培训，特别是考虑到卫生专业人员对此的兴趣。
