Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Barcelona, Spain.
Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3.
Rare diseases (RDs) as a whole affect a huge number of individuals although each specific condition comprises a low number of individuals. As a consequence, funds allocated to expand research to all conditions are often limited. Several initiatives have emerged to invest more resources for research in RDs, but patients express unmet needs regarding educational initiatives, awareness support, and psychosocial resources. We developed an educational training program in the format of weekly sessions covering basic medical scientific knowledge and psychosocial aspects of RDs. The aim of this initiative was to assess its overall impact regarding knowledge, psychological issues, and participant satisfaction. Items were evaluated through surveys before and after the sessions. Here, we report the experience and impact of two editions of this initiative with a total of 37 participants. Our results show improvements in knowledge and better management of the psychological impact. Moreover, participants were able to exchange experiences and concerns, most of which were shared even though the RDs were different. Overall, the program was evaluated by the participants as a highly beneficial experience and all of them were interested in attending advanced editions.
罕见病（RDs）整体上影响了大量个体，尽管每种具体病症的患者人数较少。因此，用于扩大对所有病症的研究的资金通常有限。已经出现了一些举措来为 RD 研究投入更多资源，但患者表示在教育计划、意识支持和社会心理资源方面存在未满足的需求。我们开发了一种教育培训计划，以每周课程的形式涵盖 RD 的基础医学科学知识和社会心理方面。该计划的目的是评估其在知识、心理问题和参与者满意度方面的总体影响。项目在课程前后通过调查进行评估。在这里，我们报告了两期该计划的经验和影响，共有 37 名参与者。我们的结果表明，知识有所提高，对心理影响的管理也有所改善。此外，参与者能够交流经验和关注点，尽管 RD 不同，但大多数关注点是可以分享的。总体而言，参与者认为该计划是一次非常有益的经历，他们都有兴趣参加高级版。
