As originally published in BIOTEC Insights magazine here, June 17, 2025.
Authored by: Dr. Bettina Hamelin President, Innovative Medicines Canada
For the millions of Canadians living with rare diseases, this is a turning point.
Now that all provinces and territories have signed on to Canada’s National Strategy for Drugs for Rare Diseases, there is an opportunity for the country to see real progression improving research, screening and diagnosis, and access to rare disease treatments. For patients, families, and the biotech community alike, this is a moment of cautious optimism.
It’s also a reminder that real impact depends on what comes next. Rare diseases, by their very nature, present immense challenges to healthcare systems: they’re difficult to diagnose, complicated to treat, and require a high degree of specialization.
Rare diseases are not that rare. Collectively, these conditions affect many. More than three million Canadians are living with a rare disease, according to the Canadian Organization for Rare Disorders (CORD). Many patients face years-long diagnostic journeys, only to find that effective treatments are unavailable in Canada or are delayed by regulatory and reimbursement hurdles.
Currently, only 60 per cent of rare disease therapies available in the U.S. and Europe make it to Canada. For those therapies that do, it’s often up to six years later than in the U.S. or Europe. For patients, that’s a lost opportunity for intervention, a prolonged period of suffering, and in some cases, a matter of life or death.
The March 2023 federal commitment of up to $1.5 billion over three years was an important step toward addressing this inequity. Now, with every province and territory signed on to implement this strategy, we have a chance to transform how rare disease care is delivered in Canada. But we’re only just beginning. To ensure meaningful outcomes, we must push for ambitious, coordinated action across jurisdictions.
Why this matters to the Biotech sector
For those in the biotech and pharmaceutical space, the signing of these agreements is a signal that Canada is serious about adopting innovation in rare disease care. The biotech sector has long been at the forefront of developing targeted therapies for rare disease populations, often navigating steep scientific and regulatory challenges along the way. With dedicated investment and a commitment to examining how to develop, collect, and evaluate the use of real-world data and evidence for reimbursement decision- making, we can now envision a future where Canada is not only a beneficiary of global innovation but a key player in its development.
What needs to happen next
The true value of the current bilateral agreements will be measured in the patient outcomes delivered. There are several areas critical to the success of the national strategy:
1.A CLEAR, NATIONAL DEFINITION OF RARE DISEASES
Adopting a consistent definition of rare disease, such as the internationally recognized threshold of fewer than 1 in 2,000 people, will help ensure that policies and programs are aligned across jurisdictions. Quebec already uses this benchmark, and national harmonization will support data sharing, research, and equitable access.
2. A DEDICATED REVIEW AND ACCESS PATHWAY
Rare disease drugs don’t fit neatly into existing regulatory frameworks. Their small patient populations often make traditional clinical trials and health technology assessments difficult. A specialized pathway that recognizes these realities and incorporates tools like real-world evidence and innovative, outcomes-based reimbursement models is essential.
3. CENTRES OF EXPERTISE ACROSS THE COUNTRY
Centres of expertise can serve as hubs for diagnosis, care coordination, research, and education. Whether through in-person services or telemedicine-enabled satellite clinics, these centres will be critical to addressing the diagnostic odyssey that so many rare disease patients endure. A good example to follow is the Care4Rare approach lead by CHEO in Ottawa.
4. INTEGRATION OF REAL-WORLD EVIDENCE
Real-world evidence enables governments to assess how a drug performs in real-life settings, facilitating more flexible and outcome-based reimbursement agreements. We welcome the commitment to examine the use of real-world evidence for common list drugs at the provincial reimbursement level and encourage the government to facilitate data sharing across jurisdictions and discuss the use of these data sets for areas such as regulatory approval and health technology assessment.
5. CONTINUED COLLABORATION WITH INDUSTRY AND STAKEHOLDERS
Innovative Medicines Canada (IMC) and its members are committed to co-creating sustainable access models with governments to ensure that patients receive the treatments that they need. IMC is open to partnering on novel pricing agreements, performance-based funding, and shared-risk frameworks that ensure value for money.
6. A NEED FOR TRANSPARENCY
Many of the decisions that the federal government and provinces made regarding the national strategy were made without input from patients, providers, or manufacturers. Drugs on the common list remain unknown, including to the companies that produce them, until after they complete negotiations. This creates uncertainty and challenges supply chains when companies cannot prepare for what is next. We call upon government to be transparent and work with the sector to ensure therapeutics can be delivered when needed.
A CALL TO BE BOLD
A well-implemented strategy opens the door for stronger partnerships between industry, academia, and government. It creates incentives for early-stage research, encourages more robust clinical trial activity on Canadian soil, and enhances our ability to collect real-world evidence. These are all crucial components of a vibrant life sciences ecosystem. For biotech firms working at the edge of scientific possibility, this kind of policy alignment is essential to de-risking innovation and bringing new therapies to patients faster.
This kind of ecosystem also offers hope to patients and parents searching for a diagnosis and navigating a fragmented system, as well as to researchers and clinicians seeking solutions for those in their care.
Unlike the Pharmacare Act, we see opportunity with the rare disease strategy. It provides a choice to provinces to sign on to what they need most with an appropriate transfer of funds to the provinces. The agreements are signed. The dollars are committed. Now it’s time to deliver on the promise.
