Rare disease policy in high-income countries: an overview of achievements, challenges, and solutions
File(s)
Published version
Author(s)
Gentilini, Arianna
Neez, Emilie
Wong-Rieger, Durhane
Type
Journal Article
Abstract
Objectives
To provide an overview of policy initiatives in high-income countries aimed at supporting the development and accessibility of treatments for rare diseases.
Methods
We examine how legislative, research, and pricing policies in high-income countries address barriers that have historically hindered innovation and access to rare disease treatments. By analyzing examples from the European Union, United Kingdom, United States, Canada, Japan, and Australia, the article identifies ongoing initiatives, outlines current challenges, and explores proposed solutions to foster a sustainable, innovative, and accessible rare disease treatment ecosystem.
Results
The review highlights policies such as legislative incentives in the European Union, United States, and Japan for orphan drug development, public-private partnerships to boost innovation, and patient registries to support research and clinical trials. Despite these efforts, major challenges persist, including high therapy costs, limited access to innovation for ultrarare diseases, and diagnostic delays, with significant disparities across regions.
Conclusions
Overcoming these challenges will require sustainable pricing and reimbursement frameworks, alongside stronger collaboration between stakeholders, particularly for ultrarare diseases. Advanced technologies, such as artificial intelligence, hold promise for improving diagnostic accuracy and data collection, supported by enhanced coding systems and registries to facilitate more robust research.
To provide an overview of policy initiatives in high-income countries aimed at supporting the development and accessibility of treatments for rare diseases.
Methods
We examine how legislative, research, and pricing policies in high-income countries address barriers that have historically hindered innovation and access to rare disease treatments. By analyzing examples from the European Union, United Kingdom, United States, Canada, Japan, and Australia, the article identifies ongoing initiatives, outlines current challenges, and explores proposed solutions to foster a sustainable, innovative, and accessible rare disease treatment ecosystem.
Results
The review highlights policies such as legislative incentives in the European Union, United States, and Japan for orphan drug development, public-private partnerships to boost innovation, and patient registries to support research and clinical trials. Despite these efforts, major challenges persist, including high therapy costs, limited access to innovation for ultrarare diseases, and diagnostic delays, with significant disparities across regions.
Conclusions
Overcoming these challenges will require sustainable pricing and reimbursement frameworks, alongside stronger collaboration between stakeholders, particularly for ultrarare diseases. Advanced technologies, such as artificial intelligence, hold promise for improving diagnostic accuracy and data collection, supported by enhanced coding systems and registries to facilitate more robust research.
Date Issued
2025-05-01
Date Acceptance
2024-12-19
Citation
Value in Health, 2025, 28 (5), pp.680-685
ISSN
1098-3015
Publisher
Elsevier
Start Page
680
End Page
685
Journal / Book Title
Value in Health
Volume
28
Issue
5
Copyright Statement
Copyright ª 2025, International Society for Pharmacoeconomics and Outcomes Research, Inc. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/39880194
PII: S1098-3015(25)00026-9
Subjects
ACCESS
Business & Economics
Economics
EQUITY
FUTURE
Health Care Sciences & Services
Health Policy & Services
HEALTH TECHNOLOGY-ASSESSMENT
IMPACT
Life Sciences & Biomedicine
MEDICINES
orphan drugs
ORPHAN DRUGS
pricing and reimbursement
R&D
rare disease policy
Science & Technology
Social Sciences
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2025-01-27