In Conversation with Healthing: Improving Rare Disease Access in Canada
For Canadians living with rare diseases, the journey from symptoms to diagnosis and treatment is often long, complex, and uncertain. While progress has been made, significant delays in accessing innovative therapies continue to affect patients and families across the country.
A long path to diagnosis and care
Rare diseases affect fewer than 1 in 2,000 individuals, but collectively impact an estimated one in 12 Canadians. Despite this prevalence, patients can wait years for a diagnosis and even longer for access to treatment.
On average, the diagnostic journey can take nearly four years and involve multiple misdiagnoses and specialist visits. Even after diagnosis, access to therapies is not guaranteed, with many treatments available internationally taking years to reach Canadian patients.
Why access remains a challenge
Several systemic factors continue to delay access to rare disease treatments in Canada:
Lengthy reimbursement and pricing processes following regulatory approval
Assessment frameworks that may not fully reflect rare disease evidence generation
- Provincial variability in funding decisions and timelines
- Delays in listing even after national agreements are reached
While recent federal investments, including the National Strategy for Drugs for Rare Diseases represent meaningful progress, implementation across provinces remains uneven.
A call for more consistent, timely access
International examples demonstrate that faster access is possible when rare diseases are prioritized within policy design. Countries such as the United States, members of the European Union, Australia, and Brazil have implemented dedicated frameworks that support earlier patient access to innovation.
In Canada, ongoing efforts to streamline diagnosis, align reimbursement timelines, and reduce provincial variation represent important steps forward but gaps remain.
Read more
To explore this issue in greater depth, including reflections on the realities and experiences of many rare disease patients and a vision for improving care in Canada, read the full Healthing op-ed here: LINK
