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

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.

Community perspectives on the magnitude of Xeroderma pigmentosum and care-seeking practices in Micheweni district, Pemba: a mixed-methods cross-sectional study

“…Knowledge on rare diseases in general population as well as among medical profession is low, for example, a study in India reports that half of the respondents did not know what are the rare diseases 23. Further, Adachi and colleagues reported that healthcare providers, decision makers and the population at large have limited knowledge and awareness of rare diseases and also few opportunities are available to raise awareness and educate key stakeholders 24. In addition, the research team noted that there was insufficient number of specialised staff in Zanzibar.…”

Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description

“…As happened with our patient, because of lack of economic resources the genetic exams were not performed early; therefore, the patient was misdiagnosed for over 8 years. In a different study, it is mentioned that many countries, including countries in Latin America, lack or have limited evidence of the economic impact of rare diseases [ 24 ]. Moreover, a misdiagnosis is associated with mental health problems, caregiving burdens, deteriorated health and quality of life [ 24 ], and the process of seeking a diagnosis has been reported as mentally and emotionally draining for patients and their families [ [25] , [26] ].…”

Impact of the COVID-19 Pandemic on People Living With Rare Diseases and Their Families: Results of a National Survey

“…Underrepresentation of minority groups may be related to the globally recognized barriers to access to RD diagnosis, specialized care and social support [ 72 , 73 ], and other determinants of lack of participation in research [ 74 , 75 ]. Spurred by these findings, the RDCRN has established a cross-consortia Diversity Committee to identify actions to support and expand the participation and engagement of research participants, family members, advocates, and research staff from underrepresented or marginalized communities.…”