Review of 11 national policies for rare diseases in the context of key patient needs.
Review of 11 national policies for rare diseases in the context of key patient needs.
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DOI：
10.1186/s13023-017-0618-0
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发表时间：
2017-03-31
影响因子：
3.7
通讯作者：
Terry S
中科院分区：
文献类型：
--
作者：
Dharssi S;Wong-Rieger D;Harold M;Terry S
罕见病在其表现的严重程度和受其折磨的总人数方面共同造成全球公共卫生负担。对许多患者来说，在获得适当护理、诊断延误和治疗选择有限或不存在方面存在相当大的障碍。在这些挑战的激励下，罕见病患者社区发挥了关键作用，提高了患者的声音，并动员立法来支持解决罕见病患者需求的项目的发展。1983年美国《孤儿药法》是这一进程中的一个关键里程碑，为其他国家引入和实施类似的孤儿药立法提供了路线图；最近，欧洲联盟（欧盟）进一步鼓励广泛采用和实施旨在更充分地满足罕见病患者全面需求的罕见病计划或战略。尽管做出了这些立法努力，患者权益团体也在推动罕见病项目的实施和采用方面做出了越来越大的贡献，但一些国家的政策格局仍然存在差距。为了更深入地了解解决罕见病患者关键需求的挑战和机遇，必须确定地理和经济上各不相同的国家的罕见病立法和政策现状。在五个方面对每个国家的政策现状和实施情况进行了评估，涉及患者的主要需求：改善护理协调、诊断资源、获得治疗、患者意识和支持，以及促进创新研究。我们的研究结果强调了患者群体在推动立法和项目的建立和采用以改善罕见病护理方面的持续作用。此外，我们发现虽然国家罕见病计划为改善护理提供了重要指导，但计划的实施在各国之间是不平衡的。需要更多的研究来证明罕见病计划的特定要素对患者预后的影响。
Rare diseases collectively exert a global public health burden in the severity of their manifestations and the total number of people they afflict. For many patients, considerable barriers exist in terms of access to appropriate care, delayed diagnosis and limited or non-existing treatment options. Motivated by these challenges, the rare disease patient community has played a critical role, elevating the patient voice and mobilizing legislation to support the development of programs that address the needs of patients with rare diseases. The US Orphan Drug Act of 1983 served as a key milestone in this journey, providing a roadmap for other countries to introduce and implement similar orphan drug legislation; more recently, the European Union (EU) has gone further to encourage the widespread adoption and implementation of rare disease plans or strategies designed to more adequately address the comprehensive needs of patients with rare diseases. Despite these legislative efforts and the growing contributions of patient advocacy groups in moving forward implementation and adoption of rare disease programs, gaps still exist across the policy landscape for several countries. To gain deeper insights into the challenges and opportunities to address key needs of rare disease patients, it is critical to define the current status of rare disease legislation and policy across a geographically and economically diverse selection of countries. We analyzed the rare disease policy landscape across 11 countries: Germany, France, the United Kingdom, Canada, Bulgaria, Turkey, Argentina, Mexico, Brazil, China, and Taiwan. The status and implementation of policy was evaluated for each country in the context of key patient needs across 5 dimensions: improving coordination of care, diagnostic resources, access to treatments, patient awareness and support, and promoting innovative research. Our findings highlight the continuing role of the patient community in driving the establishment and adoption of legislation and programs to improve rare disease care. Further, we found that while national rare disease plans provide important guidance for improving care, implementation of plans is uneven across countries. More research is needed to demonstrate the effect of specific elements of rare disease plans on patient outcomes.