Review of 11 national policies for rare diseases in the context of key patient needs

Abstract

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.

A compilation of national plans, policies and government actions for rare diseases in 23 countries

“…This regulation seeks to stimulate research and to promote the development of orphan drugs to treat patients with rare diseases (17)(18)(19)(20). Europe also has developed the European Project for Rare Disease National Plan (EUROPLAN) to facilitate the creation of national plans in the region (3,16,(19)(20)(21)25). These plans are defined as official public health strategies accepted by a government with explicit priorities, actions, a timetable and a budget (16).…”

“…These plans are defined as official public health strategies accepted by a government with explicit priorities, actions, a timetable and a budget (16). Research on rare diseases in Europe is supported by The Seventh Framework Program (FP7), which is a program that funds medium-to large-sized collaborative research projects (19,20,25). In addition, free, shortterm access to orphan products is accomplished through Compassionate Use Programs (CUPs) in Member States (26)(27)(28), with some exceptions such as Greece (26,27).…”

Asia Pacific Society of Human Genetics (APSHG) from conception to 2019: 13 years of collaboration to tackle congenital malformation and genetic disorders in Asia

“…Other support groups had followed suit. In China, the Chinese Organization for Rare Disorders, a founding member of the Asia‐Pacific Alliance of Rare Disease Organizations hosted the Rare Disease International Meeting (2014), a global alliance of RD patients and advocates, to exchange information, raise awareness and increase the support for RDs (Dharssi, Wong‐Rieger, Harold, & Terry, ).…”

Development of a pilot rare disease registry: a focus group study of initial steps towards the establishment of a rare disease ecosystem in Slovenia

“…Quality RD registries ipso facto provide a beneficial and applicable platform in all stages of evidence-informed healthcare policymaking, and may contribute to significant advancement in the management of RDs in general. For these reasons, the development of RD registries is one of the EU’s priorities in the field of the monitoring and control of RDs [7]. This is evidenced by specific recommendations and measures to support the development of such registries in different EU healthcare resolutions, strategic documents [8, 9], and EU-funded projects, including the RD-Connect (2012–2018) and EPIRARE (European Platform for Rare Disease Registries, 2011–2014) projects.…”