Engagement of Canadian patients with rare diseases and their families in the lifecycle of therapy: a qualitative study

Abstract

Patient involvement is increasingly recognized as critical to the development, introduction and use (i.e. the lifecycle) of new and effective therapies, particularly those for rare diseases, where natural histories and the impact on patients and families are less well-understood than for common diseases. However, little is known about how patients and families would like to be involved during the lifecycle.The aim of this study was to explore ways in which Canadian patients with rare diseases and their families would like to be involved in the lifecycle of therapies and identify their priorities for involvement.Patients with rare diseases and their families were recruited to participate in two deliberative sessions, during which concepts related to decision-making uncertainty and the technology lifecycle were introduced before eliciting input around ways in which they could be involved. This was followed by a webinar, which was used to further identify opportunities for involvement. The data were then analyzed qualitatively using eclectic coding.Patients and families identified opportunities that fell into three goals: (1) incorporation of their 'lived experience' in coverage decision making (i.e. decisions by governments on funding new therapies); (2) improved care for patients; and (3) greater awareness of rare diseases, with the first being a priority.Opportunities for patients and families to contribute their 'lived experience' are needed throughout the orphan drug lifecycle, but the ideal mechanisms for providing this input have yet to be determined.