Tumiene Birute, Graessner Holm
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
J Community Genet. 2021 Apr;12(2):231-239. doi: 10.1007/s12687-021-00520-9. Epub 2021 Mar 18.
Care pathways (CPW) are used worldwide to structure care processes within the patient-centered care concept. Rare diseases (RD), defined as those affecting less than 5 persons per 10,000 and including up to 10,000 different diseases, present unique challenges to CPW development due to their rarity and a large number of disease entities, chronic and frequently disabling nature, heterogeneous manifestation, multisystem involvement, and complexity in diagnostics and treatment. However, failure to develop RD CPWs eventually leads to long diagnostic odysseys, limited and unequal access to RD treatments, and a huge burden of complex care coordination that lies on the shoulders of patients and their families, imposing many personal, professional and social life difficulties, and diminishing their quality of life. In the development of RD CPW, there is a need to ensure smooth horizontal and vertical care integration, multiple transitions, and long-term care coordination across many geographically distant care providers and to find a fine balance between centralized expertise-based, complex, highly specialized services and possibilities for local care provision, patient empowerment and self-management, and digital healthcare. Established in 2017, European Reference Networks may have a high added value through an increase in accessibility and quality of services, economies of scale, scope and speed in the development of lacking evidence-based, educational and other resources for RD CPW, and speeding up innovation development and translation into RD CPW. However, their full benefits may only be reaped through a pan-European collaboration, universal acceptance of common European values and open-mindedness for sometimes disruptive innovation in the provision of healthcare across all Member States of the European Union.
护理路径（CPW）在全球范围内被用于构建以患者为中心的护理理念下的护理流程。罕见病（RD）被定义为每10000人中受影响少于5人的疾病，包括多达10000种不同疾病，由于其罕见性、大量的疾病实体、慢性且常导致残疾的性质、异质性表现、多系统受累以及诊断和治疗的复杂性，给护理路径的开发带来了独特的挑战。然而，未能开发罕见病护理路径最终会导致漫长的诊断过程、获得罕见病治疗的机会有限且不平等，以及患者及其家庭承担复杂护理协调的巨大负担，给他们的个人、职业和社会生活带来诸多困难，并降低他们的生活质量。在开发罕见病护理路径时，需要确保在许多地理位置遥远的护理提供者之间实现顺畅的横向和纵向护理整合、多次转诊以及长期护理协调，并在基于集中专业知识的复杂、高度专业化服务与当地护理提供、患者赋权和自我管理以及数字医疗保健的可能性之间找到良好的平衡。欧洲参考网络于2017年成立，通过提高服务的可及性和质量、规模经济、在开发缺乏的罕见病护理路径循证、教育和其他资源方面的范围和速度，以及加速创新开发并将其转化为罕见病护理路径，可能具有很高的附加值。然而，只有通过泛欧合作、普遍接受共同的欧洲价值观以及对欧盟所有成员国医疗保健提供中有时具有颠覆性的创新持开放态度，才能充分收获其益处。
