Patient-reported experiences of people living with a rare disease with secondary and tertiary care: a scoping review

Abstract Background People living with rare diseases (PLWRD) are a heterogenous population facing common healthcare challenges. Continued access to integrated, expert healthcare is a top medical need and policy ask for PLWRD and their carers. Patient experience is a valued healthcare quality indicator with patient-reported experience measures (PREMs) emerging as serviceable instruments. To map out the experiences of PLWRD within secondary and/or tertiary healthcare settings, we conducted a scoping literature review by searching Medline, Embase and CINAHL for papers in English and set in Western countries, published from January 2005 to September 2022. Results A total of 61 full-text peer-reviewed articles and conference abstracts were included and mapped into a first definition of PLWRD-reported experience with secondary and tertiary care structured into 11 domains and 71 categories. Domains were ‘Access’, ‘Comprehensiveness’, ‘Continuity’, ‘Coordination’, ‘Patient-centredness’, ‘Safety’, ‘Self-management support’, ‘Trust’, ‘Overall perceived quality of care’, ‘Diagnosis & Treatment/Interventions’ and ‘Service aspects of care’. Forty-two questionnaires were reported in the included papers. None of them cover all healthcare experience domains and categories nor were they fully validated across rare diseases (RD). Most studies were set in English-speaking countries, did not disclose participant ethnicity, and focused on individual RD, collectively covering less than 2% of the known 6,000 RD. Patient-reported experiences were mainly captured for adult patients, while proxy studies predominantly targeted parents of children with RD. Adolescents living with RD were the least represented age group. To build upon these findings and agree on a healthcare experience framework of secondary and tertiary healthcare for PLWRD, the RD community must be heard. The authors make five recommendations for consulting the community, finalising a conceptual framework and validating RD-PREMs, namely to (1) Involve multiple stakeholders , (2) Increase RD diversity , (3) Cater for all age groups , (4) Consider gender and ethnicity , (5) Ensure geographic representativeness . Conclusions This study provides actionable evidence and guidance to validate a healthcare experience framework for PLWRD which can inform the creation of generic RD-PREMs feeding a quality improvement system at hospital, regional, country and European levels, thus ensuring equitable access to integrated care for PLWRD.