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

Issued Date

2023-03-01

Resource Type

Review

ISSN

16617827

eISSN

16604601

DOI

10.3390/ijerph20064732

Scopus ID

2-s2.0-85151660479

Journal Title

International Journal of Environmental Research and Public Health

Volume

20

Issue

6

Rights Holder(s)

SCOPUS

Bibliographic Citation

International Journal of Environmental Research and Public Health Vol.20 No.6 (2023)

Suggested Citation

Adachi T., El-Hattab A.W., Jain R., Nogales Crespo K.A., Quirland Lazo C.I., Scarpa M., Summar M., Wattanasirichaigoon D. Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges. International Journal of Environmental Research and Public Health Vol.20 No.6 (2023). doi:10.3390/ijerph20064732 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/81863

Title

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

Author(s)

Adachi T.
 El-Hattab A.W.
 Jain R.
 Nogales Crespo K.A.
 Quirland Lazo C.I.
 Scarpa M.
 Summar M.
 Wattanasirichaigoon D.

Author's Affiliation

University Hospital Sharjah
 College of Medicine
 Ramathibodi Hospital
 Graduate School of Medical Science
 School of Humanities
 National Health Security Office
 Keio University School of Medicine
 Universitat Autònoma de Barcelona
 The Food and Drug Administration, Thailand Ministry of Public Health
 Policlinico Universitario, Udine
 Universidad de Chile
 National Institutes of Health (NIH)
 Childrens National Health System
 The George Washington University
 United Japanese-Researchers Around-the-World (UJA)
 Dystrophic Epidermolysis Bullosa Research Association (DEBRA)
 Policy Wisdom LLC
 Thailand Medical Genetics and Genomics Association (TMGGA)
 Asia Pacific Society of Human Genetics (APSHG)
 MENA (Middle East and North Africa) Organization for Rare Diseases
 Genetics Society of Thailand
 Thai Rare Disease Foundation (ThaiRDF)
 Asia Pacific Alliance of Rare Disease Organisations
 European Reference Network for Hereditary Metabolic Disorders (MetabERN)
 National Organization for Rare Disorders
 Brains for Brain Foundation
 Fundación Arturo López Pérez

Other Contributor(s)

Mahidol University

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.

Keyword(s)

Environmental Science

Availability

URI

https://repository.li.mahidol.ac.th/handle/20.500.14594/81863

Collections

Scopus 2023