Morally problematic situations raised by adult rare diseases

Research team

Ariane Quintal (Pragmatic Health Ethics Research Unit, Université de Montréal); Eric Racine (Pragmatic Health Ethics Research Unit, Université de Montréal, McGill University)


Canadian Institutes of Health Research (CIHR); Fonds de recherche du Québec – Santé (FRQS).

Diseases with a prevalence of less than 1 in 2000 are considered to be rare diseases Most of their mechanisms of action, symptoms, and therapeutic avenues are poorly understood. For people suffering from rare diseases, the perspicacious lack of scientific evidence translates into significant diagnostic delays and obstacles in obtaining appropriate and affordable care. Due to their often poor health and disabled state, adults with rare diseases are confronted with challenges in various aspects of their lives, including (but not limited to) routine, family, career, leisure, transportation, and social interaction.

These challenges often become known as morally problematic situations, defined as circumstances involving conflict, uncertainty, distress or dilemmas regarding the best course of action. These situations can raise important questions surrounding the priorities of adults with rare diseases, the priorities of their relatives, or even those of the clinicians assisting them. Despite their importance, morally problematic situations made explicit by rare diseases in adults are still poorly understood by the scientific and medical community.

As such, the first objective of this participatory research-action project is to identify and understand the morally problematic situations that arise from rare diseases in adults within the context of Quebec. The second objective of this research project is to identify strategies that could help mitigate some of these situations. In accordance with its participatory approach, the project will be developed with the help of a working group. The project will consist of two broad provincial consultations with members of the relevant stakeholder groups. ore specifically, the study will involve collecting testimonies, conducting follow-up interviews, conducting a Delphi survey, and developing strategies to mitigate some of the morally problematic situations identified throughout the previous steps of the project. In short, this research project has as its fundamental goal the aim to help integrate ethics into both care and support offered to adults with rare diseases in the context of the healthcare system.