Assessing the Social Impact of Rare Diseases at the European level: A Feasibility study

Abstract Background The social impact of rare diseases (RD) on education, employment, and income remains poorly understood, although approximately 70% of RDs are genetic and often manifest in childhood. Research is hampered by the low prevalence of cases, highlighting the need for international collaboration. This study aimed to test a method for assessing the social impact of RDs at the European level. Methods Existing European-level indicators and reference data, such as European Health Interview Survey (EHIS), were identified to inform the development of a meta-questionnaire. The tool was designed to detect potential health selection effects while accounting for selection bias and distinguishing social from disease-related mechanisms. The questionnaire was tested via a cross-sectional online survey conducted in France, Spain, and Switzerland among patients with vascular liver diseases (VLD). Results Among 595 respondents (50% response rate), 94% reported medium to high educational attainment, indicating sample bias. Yet, 30% (N = 168) reported restricted career opportunities, and 32% (N = 180) experienced income loss due to illness. In working-age participants (25-64 years), 7% were unemployed and seeking work, and 14% were unemployed for health-related reasons. Indirect standardization, adjusting for age, sex, and education, enabled estimation of VLD's impact on employment outcomes while addressing selection bias when comparing to European reference data. The survey also explored physical and mental health effects to identify mechanisms linking disease and socioeconomic impact. Conclusions Findings highlight both subjective and objective employment-related consequences of VLD. While limited data compatibility with other European sources restricted deeper analysis of health selection effects, indirect standardization proved to be a promising method. This approach shows potential for use in larger, aggregated European datasets to better assess the social burden of RDs. Key messages • Assessing the social impact of rare diseases is possible using European-level data, but careful control for selection bias is essential to generate robust conclusions. • Rare diseases can have significant socioeconomic consequences, and indirect standardization offers a viable method to measure their impact.