Ethical and psychosocial aspects

The typical experiences of rare disease patients with the healthcare system are under-investigated. The International Rare Diseases Research Consortium recommended to address the challenges of living with a rare disease as a research priority. Using a mixed-methods design with qualitative and quantitative studies, we will reconstruct the ethical and psychosocial issues faced by patients and their families (e.g. access to diagnosis and treatment, direct and indirect incurred costs of rare disease patients, or the effects on social life and life plans). Recent developments challenge traditional frameworks of prioritization and resource allocation (e.g. crowdfunding and wealthy donors to finance treatments, pharmaceutical industry offering treatments lotteries, parent-initiated research initiatives). Ethical perspectives will be discussed against the background of different theories of justice in the context of healthcare; how to allocate research-time and funding to a wide variety of rare diseases? In addition to theoretical considerations, we will study prioritization preferences among Swiss citizens. Criteria for research prioritization in rare diseases will be developed together with stakeholders from research, medicine, industry, patient’s representatives, societal groups, and politics.

Approach: We selected two representative rare diseases (Ataxia telangiectasia from WP1 and Methylmalonic aciduria from WP2) that are suited for a qualitative standardized narrative analysis. Participants will be recruited directly via the clinic, the Swiss Rare Disease Registry (SRDR) and Swiss patient organizations (ProRaris). We will conduct 30 to 50 semistructured interviews, which will be analyzed for specific themes, such as access to diagnosis and treatment, according to the Oxford Health Experiences Group standards. The data will be made available through the newly founded DIPEx (Database of Individual Patient Experiences) webpage for Switzerland. Drawing on novel experience-based codesign (EBCD47) and participatory approaches, selected material from the interviews will be used to produce trigger films and analyze fair resource allocation. An in-depth quantitative study of rare disease patient experiences will be the first of its kind in Switzerland. This study will analyze issues concerning resources, needs, and challenges in a representative patient sample (children and adults), drawing on specific insights from the interview study. Stakeholder discussions (following a Delphi design) will include researchers from WPs 1 & 2, and will develop concrete recommendations on what is needed to best provide accessible high quality care for rare disease patients in Switzerland.