Rare Direct
This study explores the diagnostic experiences of Canadian rare disease patients and caregivers, combining survey data with an international environmental scan to identify needs and inform strategies for faster diagnoses.
Background
For patients with rare genetic conditions, getting a diagnosis is a struggle. While there is abundant research on the challenging aspects of this diagnostic process, most of the research is not taken from the patients’ perspective. Our research focuses on the patients' and caregivers’ perspective, in hopes that by better understanding this stakeholder, we could devise potential ways to address their specific needs, thereby improving their experience of this process in a manner that may contribute to a more timely diagnosis. After discovering the general need for timely diagnosis of rare disease patients, we went to the literature to further define the need. There, we found many sub-needs within the larger need for timely diagnosis. We wanted to specifically define how do the Canadian patients, our primary stakeholder, view this problem. To answer this question, we surveyed patients, asking questions geared towards understanding their views of their diagnostic odyssey. At the same time, we wanted to understand how other locales are attempting to fill this need, by doing an environmental scan on how different countries approach this need for timely diagnosis for patients.
Project team
- Renee Hofstedter
- Anat Segal-Shalev
- Weixi Li
TRP supervisors
Project advisory committee
- Nick Watkins (Genetic Counsellor, Mount Sinai)
- Lucy Osborne (U of T)
- Robin Hayeems (CHES, Child Health, Sick Kids)
See our community directory for more on committee members.