Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges
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 bu...
| Main Authors: | , , , , , , , |
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| Format: | Journal Article |
| Language: | English |
| Published: |
2023
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| Online Access: | https://hdl.handle.net/10356/169907 |
| _version_ | 1826120722034982912 |
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| author | Adachi, Takeya El-Hattab, Ayman W. Jain, Ritu Nogales Crespo, Katya A. Quirland Lazo, Camila I. Scarpa, Maurizio Summar, Marshall Wattanasirichaigoon, Duangrurdee |
| author2 | School of Humanities |
| author_facet | School of Humanities Adachi, Takeya El-Hattab, Ayman W. Jain, Ritu Nogales Crespo, Katya A. Quirland Lazo, Camila I. Scarpa, Maurizio Summar, Marshall Wattanasirichaigoon, Duangrurdee |
| author_sort | Adachi, Takeya |
| collection | NTU |
| description | 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. |
| first_indexed | 2024-10-01T05:20:59Z |
| format | Journal Article |
| id | ntu-10356/169907 |
| institution | Nanyang Technological University |
| language | English |
| last_indexed | 2024-10-01T05:20:59Z |
| publishDate | 2023 |
| record_format | dspace |
| spelling | ntu-10356/1699072023-08-19T16:57:49Z Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges Adachi, Takeya El-Hattab, Ayman W. Jain, Ritu Nogales Crespo, Katya A. Quirland Lazo, Camila I. Scarpa, Maurizio Summar, Marshall Wattanasirichaigoon, Duangrurdee School of Humanities Dystrophic Epidermolysis Bullosa Research Association (DEBRA), Singapore Asia Pacific Alliance of Rare Disease Organizations (APARDO), Singapore Language and Communication Centre Science::Medicine Rare Diseases Burden Of Disease 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. Published version The authors disclose receipt of financial support from Takeda Pharmaceutical Company Limited for the research and the discussion process that was part of developing this document. The authors independently drafted the manuscript’s contents and recommendations, and this manuscript is their product. 2023-08-14T06:33:48Z 2023-08-14T06:33:48Z 2023 Journal Article Adachi, T., El-Hattab, A. W., Jain, R., Nogales Crespo, K. A., Quirland Lazo, C. I., Scarpa, M., Summar, M. & Wattanasirichaigoon, D. (2023). 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, 20(6), 4732-. https://dx.doi.org/10.3390/ijerph20064732 1660-4601 https://hdl.handle.net/10356/169907 10.3390/ijerph20064732 36981643 2-s2.0-85151660479 6 20 4732 en International Journal of Environmental Research and Public Health © 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https:// creativecommons.org/licenses/by/ 4.0/). application/pdf |
| spellingShingle | Science::Medicine Rare Diseases Burden Of Disease Adachi, Takeya El-Hattab, Ayman W. Jain, Ritu Nogales Crespo, Katya A. Quirland Lazo, Camila I. Scarpa, Maurizio Summar, Marshall Wattanasirichaigoon, Duangrurdee Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges |
| title | Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges |
| title_full | Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges |
| title_fullStr | Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges |
| title_full_unstemmed | Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges |
| title_short | Enhancing equitable access to rare disease diagnosis and treatment around the world: a review of evidence, policies, and challenges |
| title_sort | enhancing equitable access to rare disease diagnosis and treatment around the world a review of evidence policies and challenges |
| topic | Science::Medicine Rare Diseases Burden Of Disease |
| url | https://hdl.handle.net/10356/169907 |
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