Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges

Takeya Adachi, Ayman W. El-Hattab, Ritu Jain, Katya A. Nogales Crespo (), Camila I. Quirland Lazo, Maurizio Scarpa, Marshall Summar and Duangrurdee Wattanasirichaigoon
Additional contact information
Takeya Adachi: Department of Dermatology, Keio University School of Medicine, Tokyo 160-8582, Japan
Ayman W. El-Hattab: Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah 27272, United Arab Emirates
Ritu Jain: Dystrophic Epidermolysis Bullosa Research Association (DEBRA), Singapore 059811, Singapore
Katya A. Nogales Crespo: Policy Wisdom LLC, Quebradillas 00678-2705, Puerto Rico
Camila I. Quirland Lazo: Health Technology Assessment Unit, Cancer Research Department, Arturo López Perez Foundation, Santiago 7500921, Chile
Maurizio Scarpa: European Reference Network for Hereditary Metabolic Diseases (MetabERN), 33100 Udine, Italy
Marshall Summar: The Translational Science Training Program, National Institutes of Health (NIH), Maryland, MD 20814, USA
Duangrurdee Wattanasirichaigoon: Thai Rare Disease Foundation (ThaiRDF), Bangkok 10230, Thailand

IJERPH, 2023, vol. 20, issue 6, 1-37

Abstract: This document provides a comprehensive summary of evidence on the current situation of rare diseases (RDs) globally and regionally, including conditions, practices, policies, and regulations, as well as the challenges and barriers faced by RD patients, their families, and caregivers. The document builds on a review of academic literature and policies and a process of validation and feedback by a group of seven experts from across the globe. Panelists were selected based on their academic merit, expertise, and knowledge regarding the RD environment. The document is divided into five main sections: (1) methodology and objective; (2) background and context; (3) overview of the current situation and key challenges related to RDs covering six dimensions: burden of disease, patient journey, social impact, disease management, RD-related policies, and research and development; (4) recommendations; and (5) conclusions. The recommendations are derived from the discussion undertaken by the experts on the findings of this review and provide a set of actionable solutions to the challenges and barriers to improving access to RD diagnosis and treatment around the world. The recommendations can support critical decision-making, guiding efforts by a broad range of RDs stakeholders, including governments, international organizations, manufacturers, researchers, and patient advocacy groups.

Keywords: rare diseases; burden of disease; patient journey; social impact; disease management; health policies; health equity (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2023
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://www.mdpi.com/1660-4601/20/6/4732/pdf (application/pdf)
https://www.mdpi.com/1660-4601/20/6/4732/ (text/html)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:gam:jijerp:v:20:y:2023:i:6:p:4732-:d:1090682

Access Statistics for this article

IJERPH is currently edited by Ms. Jenna Liu

More articles in IJERPH from MDPI
Bibliographic data for series maintained by MDPI Indexing Manager ().