Health service access and delivery for people living with rare disorders: a scoping review

Rare disorders contribute significant collective health system costs; individuals living with rare disorders frequently encounter diagnostic, treatment, and management barriers. Despite international recognition of these challenges, there remains limited research addressing systemic health service delivery and access barriers for those with rare disorders, or identification of how such research informs policymaking.

Dimensions, PubMed, Scopus, ProQuest, CINAHL, and Ovid platform databases were employed in a search of qualitative research documenting the health service experiences of people living with rare disorders and their primary support networks. A total of 4,615 records were identified and after de-duplication, screened by title, keywords, and abstract. Seventy-eight publications met the inclusion criteria after full text screening, these were then reviewed. Policy impact in the form of citations was determined by whether an Overton search identified a link between the reviewed studies and policy documents.

Two primary findings were identified. (1) Health service access and delivery barriers are pervasive. People living with rare disorders and their support networks manage emotional, financial, and social challenges. There is an urgent need for improved service delivery, including better access, education, psychological, and peer support. (2) Reviewed studies, covering only a small subset of identified rare disorders, are published largely in specialised rare disorders journals and often failed to adopt inclusive methods. Few included publications were cited in policy-related documents retrieved through Overton, and several identified citations were incidental rather than substantive.

Despite growing awareness, health systems fall short of addressing structural barriers faced by people living with rare disorders. The findings support development of a global coordinated action plan for rare disorder management and its subsequent implementation following adoption. For researchers, this could include adoption of inclusive research methods. For policymakers, there is a need for stronger inclusion of equity-priority populations and coordinated policy frameworks that recognise the collective impact of disparate and poorly managed care. Critical to supporting change is investment in the upskilling of the health workforce and clinicians' active engagement in diagnosis, coordination, long-term management, and treatment.