According to Health Canada, rare diseases are life-threatening, debilitating or serious and chronic conditions that affect a small number of individuals. Approximately one million Canadians are affected by rare diseases. These diseases often appear at birth or emerge in early childhood. One-third of children with rare diseases die before their fifth birthday. For 94% of these conditions, there is no treatment available.

On 18 April 2018, the House of Commons Standing Committee on Health (“the Committee”) agreed to conduct a study on the barriers that Canadians with rare diseases face in accessing treatments, and examine how the federal government, in partnership with the provinces and territories, could help remove these barriers.

The Committee held five meetings and heard from 24 witnesses, including government officials, physicians, researchers, industry representatives and patient groups, and received 10 written submissions. These witnesses outlined key challenges Canadians face in accessing treatment for rare diseases in the following areas: regulatory approval of drugs for rare diseases for sale; pricing; reimbursement for drug costs through provincial and territorial drug coverage plans; and access to diagnostics for these diseases.

Witnesses told the Committee that there is a lack of coordination between federal regulatory approval processes for the sale of drugs for rare diseases and provincial and territorial processes that make reimbursement decisions about these drugs. This lack of coordination leads to delays in treatment for patients. Health Canada also needs to do a better job of communicating its regulatory decisions to physicians and patients.

The biggest barrier limiting patients’ access to these drugs is their affordability. Drugs for rare diseases can cost between $0.5 million to $4.9 million per person per year.

With more and more of these drugs coming to market, governments may not be able to cover the costs of the drugs without sacrificing other health care priorities. Governments also face difficulties justifying spending funds on the reimbursement of these drugs when there is limited evidence showing that they offer significant health benefits. At the same time, drug manufacturers must continue to have incentives to invest in the development of treatments in this area and to seek market authorization for the sale of these drugs in Canada.

The Committee agrees with witnesses that it is time to change Canada’s approach towards drugs for rare diseases. The Committee makes 19 recommendations in this report that focus on:

• establishing coordinated processes for the approval and reimbursement of drugs for rare diseases in Canada;
• implementing the proposed amendments to the Patented Medicines Regulations that will lead to lower drug prices;
• short- and long-term options for covering the costs of drugs for rare diseases; and
• supporting research that examines the real-world benefits and risks of drugs for rare diseases.