Approximately 500,000 Canadian children are classified as having a rare disease. Rare diseases are often complex, life-threatening, or chronically debilitating and over 80% of rare diseases have a genetic origin. Before a firm etiologic diagnosis is established, children and families often go through a diagnostic odyssey that includes many hospital and clinic visits, tests and several misdiagnoses.
Therapies that are now available to treat rare diseases can be expensive, with new drugs costing between $100,000 and $500,000 per patient. The economic and social costs of childhood rare disease are significant and growing.
Next generation sequencing technologies, including whole exome/genome sequencing (WES/WGS), may enable more accurate disease diagnosis and treatment guidance for childhood rare diseases, but the translation of WES/WGS into the clinic has been limited.
A key obstacle to WES/WGS implementation is the limited empirical evidence on whether these technologies can direct clinical management and improve patient outcomes. Questions remain as to whether WGS represents a valued and efficient use of resources, and when WES/WGS becomes cost-effective.
This project aims to provide evidence for appropriate and sustainable adoption of WES/WGS to diagnose and guide treatment for children with rare diseases. This will be done by generating evidence on the preference-driven net-benefit of WES/WGS versus the standard diagnostic pathway from the perspectives of two healthcare systems: British Columbia (BC) and the National Health Service (NHS) in England.