Rare Disease Policy in High-Income Countries: An Overview of Achievements, Challenges, and Solutions

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.

Keywords: R&D; orphan drugs; pricing and reimbursement; rare disease policy.