Is the Older Adult Subgroup of the Rare Disease Population Marginalized on Purpose? an Analysis of Equity Issues Encountered By the (OLDER) Rare Disease Population

OBJECTIVES: The rare disease population faces hurdles throughout their interaction with health systems. These hurdles often vary in most aspects of rare diseases, including age. We deduce that these hurdles could subject the rare disease population to differential treatment in comparison to the general population. Our objective was to find evidence of equity issues encountered by (1.) the rare disease population in comparison to the general population, and (2.) older adults living with a rare disease in comparison to the general rare disease population.

METHODS: We conducted a systematic literature review according to the PRISMA guidelines and applied a search strategy to MEDLINE via PubMed, the Cochrane Library, and Embase based on search terms related to equity and rare diseases.

RESULTS: We retrieved and extracted evidence from 63 publications from which two evidence clusters and five evidence subclusters emerged, thus constituting our evidence framework. Evidence cluster 1 contained evidence from publications discussing ethical concepts (n = 12) and societal preferences (n= 10). Evidence cluster 2 covered regulations (n= 33), access to care (n=3), and health outcomes (n=5). This inductively developed Framework shows areas where equity issues may be encountered. From moral principles and ethical concepts that countries and their respective health systems choose to align with, societal preferences emerge. Consequently, health policies, regulations and methods are put in place to guarantee the population’s access to care, thus influencing health outcomes.

CONCLUSIONS: We could not find evidence that demonstrated the more encounters of equity issues among the older rare disease population in comparison to the general rare disease population. Nonetheless, the rare disease population encounters comparatively more equity issues compared to the general population. To better address specific forms of discrimination like ageism, we call for further research exploring the age dimension of equity issues experienced within specific subgroups of the general population.