Canada’s Rare Disease Strategy – What is it and why do we care?
April 28, 2022

Approximately 1 in 12 Canadians, mostly children, are affected by a rare disorder. Patients with rare diseases face many challenges, including misdiagnosis, limited treatment, and difficulty accessing innovative therapies even when they are available.

Drug reimbursement varies across Canadian provinces and territories, leading to inequities for patients. Canada’s Rare Disease Strategy was developed with the aim to coordinate the efforts of governments and stakeholders to establish a consistent national strategy to treat rare diseases.

The Rare Disease Strategy has five main goals:

  • Improving early detection and prevention
  • Providing timely, equitable and evidence-informed care
  • Enhancing community support
  • Providing sustainable access to promising therapies
  • Promoting innovative research

Key aspects of the Strategy include providing coverage for healthcare services at the same level as people with more common diseases, creating a national registry for all rare diseases, implementing a regulatory framework for orphan drugs, and increasing funding for rare disease research.

Knowledge gained from understanding rare diseases can also lead to developments in more common conditions, resulting in a benefit to those without rare diseases as well. Although 80% of rare disorders are genetic, many are due to “spontaneous” genetic mutations that can affect anyone, making this a concern for all Canadians and not just the nearly 3 million that are known to be affected.

Implementing the Rare Disease Strategy will not necessarily cost Canadians more. Earlier diagnosis and correct treatments can lead to reduced unnecessary surgeries, organ transplants, and visits to multiple specialists, resulting in savings for the health system and taxpayers. Given these potential benefits, in January 2021, Health Canada launched a national online engagement to receive feedback from Canadians on a national strategy for drugs for rare diseases.

Finally, the development of infrastructure to capture real-world data for those affected by rare diseases can greatly inform funding decisions and models, where clinical trial data is often inherently limited.

With the heightened focus in this area, there is hope that the health and quality of life of Canadians with rare diseases can be improved and equity in treatment can be achieved.