More than three million Canadians are living with a rare disease.  Many have limited or inadequate access to life-saving treatments - this is a gap in our health care system that deserves immediate attention. While there has been much progress in raising the profile of this health challenge, Canada remains the only G7 country without an official dedicated framework or even a standard definition of 'rare disease.' For those vulnerable Canadians impacted by rare disease, a pan-Canadian rare disease strategy is critical. Currently, those with a rare disease must deal with a complex and often difficult journey towards diagnosis. With few support networks, they face great difficulty accessing care and medical expertise. The Government of Canada has earmarked $1 billion over two years, starting in this year to 2023, with up to $500 million per year ongoing for rare disease. It's a positive step in the right direction, but we need a greater sense of urgency to accelerate the development of a formal rare disease strategy and gain clarity on where these funds will go. Thankfully there has been progress - Health Canada has conducted stakeholder consultations. Over 650 clinicians, patients, caregivers, the pharmaceutical industry, and payers have shared their views on how our health systems can better serve Canadians with rare diseases. Amongst them, Pfizer has shared its opinions, including:

• Canada must adopt a definition of rare disease that closely aligns with the international community. Canada should set upon an inclusive process to create a benchmark – one that includes the voices of patients, scientific experts, and health system stakeholders.
• Canada needs a tailored review process for rare diseases. It is critical to have an agile, predictable, and efficient approach to reviewing rare disease drugs in Canada. This approach must engage relevant stakeholders in a structured and inclusive way, considering all relevant factors to rare disease medicines.
• We need open-sourced, dynamic and internationally aligned disease registries. This will ensure all real-world evidence is collected and available for analysis at regular intervals.

Furthermore, we agree with patient and expert groups who believe we cannot tinker around the edges to cobble together “one-offs.” Reimbursement agreements, candidate identification, data collection, coverage, or targeted grants for R&D must all be prioritized in a holistic approach aligned with federal, provincial, and territorial priorities. Rare disease populations are small. As such, we must build a rare disease infrastructure system that will allow provinces to execute care and provide patients with access to the growing expertise within the centres of excellence that are found throughout Canada. Through continued collaboration, we can modernize how rare disease patients access innovative therapies and expedite and enhance the review pathway for rare disease drugs. A drug assessment process tailored to the reality of rare diseases can be crafted in partnership.  This would involve including leading specialists in the consultation process, funding for earlier access, and partnerships with industry on value-based agreements. Our regulatory frameworks and policy approaches require updates to further support innovation in rare diseases. Like the US and EU, we must leverage Canadian expertise by providing incentives for research investment and venture capital attraction. The Canadian Organization for Rare Disorders (CORD), Canada's largest group dedicated to those living with and impacted by rare disease, has called for a complete re-imagining of a “patient-centered rare disease system that assures every person, in as short a time as possible, gets an accurate diagnosis, sees a specialist, forms an individualized care, treatment, and support plan, is enrolled in a patient registry, is referred to a patient support group, gets timely monitored access to the best treatment and, most important, has the knowledge and right to participate as a full partner in all health-related decisions.” Getting it right will also power advances to the entire health care system. This includes creating gold standard and replicable patient support programs, virtual care initiatives, case management, and electronic patient records. Programs that are designed to marshal data can be scaled up and applied to large chronic diseases. Rare disease can pioneer the way. The solutions to rare disease align with values Canadians hold dear: compassion, access, fairness, equity, and a belief that all Canadians should have access to care regardless of where they live or their ability to pay. Pfizer looks forward to collaborating with our health partners to help make this vision a reality. Let's not leave those living with a rare disease waiting. We have the momentum to act and create impact now. Fred Little is Pfizer Canada's Country lead for Rare Disease and Gene Therapy.  In the past 25 years, he has helped bring innovative medicines to over 50 patient markets.