Preferences and the Value of Whole-Exome Sequencing as a Diagnostic Tool for Rare Diseases
The aim of our study is to explore and understand the perceptions and opinions of patients with rare diseases regarding the value of obtaining a diagnosis. Furthermore, we would like to understand the value of using technologies such as whole-exome sequencing (WES) in providing a clinical diagnosis for patients with rare diseases. It is part of the CARE for RARE project, a pan-Canadian project promoting the use of a new genetic technology for diagnosing rare diseases.
We are looking for input from patients and parents of patients with rare disease in Ottawa, Calgary and Edmonton.