This article originally appeared in National Newswatch.
By Nigel Rawson and John Adams, September 19, 2025
About 11,000 rare diseases have been identified. Individually, each disease affects from fewer than 100 to a few thousand Canadians. In total, these diseases afflict up to three million. The exact cause of many is unknown. But it’s clear that inadequate access to treatment in Canada is driven by government policy.
Canadians with rare diseases face several burdens: mental and/or physical impairments, medical and caregiver needs, and frequently much suffering and early death. The direct and indirect economic burdens are significant for patients, unpaid family caregivers, the health-care system, and society as a whole.
Historically, little could be done to treat almost all rare diseases but, in the last 40 years, more therapies have been created. Development accelerated in 1983 following the passing of the world’s first Orphan Drug Act in the United States, which introduced incentives to stimulate research and development of small-market medicines. The Act succeeded; over 5,000 drugs for rare diseases (DRD) were approved between 1983 and 2019. Mapping of the human genome first completed in 2003 also stimulated therapy development. Gene and cell therapies now offer significant advances for some rare diseases.
Nevertheless, only about five percent of rare diseases have specific therapies and are generally expensive per patient. High prices are charged because most potential therapies don’t make it to market due to efficacy or safety issues. Those that do have high research, development, manufacturing, and regulatory compliance costs but will only be used by a small number of patients from whom to recoup costs and reward investors.
Focusing on per-patient prices ignores the fact that only a small number of patients require DRDs and, consequently, overall costs are a fraction of the $372 billion Canada spends on health care each year. Yet, some believe that instead of paying thousands of dollars for a DRD for one person, the money should be used to pay for less expensive therapies for many more patients. Although health-care funding is allocated on a population basis, care is and should be delivered based on medical necessity, not rationed per patient.
Decisions have to be made about how much Canadians are willing to pay for both rare diseases and common illnesses because funding is never infinite. However, this should not mean patients with rare diseases can only be given extremely restricted access to DRDs simply because they are expensive. Denying treatments to sufferers due to high prices leads to greater health-care costs later, increased suffering, and doesn’t align with societal values or what patients want.
What should be done to improve the lives of Canadians with rare diseases?
Most market-based countries have imitated the U.S. and provided orphan drug laws and rare disease strategies, but not Canada. Consequently, fewer DRDs are launched here compared with the U.S. and the European Union. Canada needs a comprehensive strategy that includes an act to improve the legal framework, financial incentives, and intellectual property for scientific development to encourage developers to launch novel DRDs here.
A rare disease strategy should encompass sustainable access to DRDs but also include improved newborn disease screening (testing is a provincial patchwork as to who gets screened for which disorders), equitable access to timely diagnosis (on average, to receive a rare disease diagnosis in Canada takes three to four years), and policies to encourage innovative research into diseases and treatments.
Innovation is stifled in Canada because drug developers must pass at least five sets of gatekeepers to get new drugs to market. The gatekeepers include regulatory review of efficacy and safety, health technology assessment of cost-benefit, bargaining between developers and governments’ price negotiation organization, and further bargaining with individual government drug plans before they decide whether to list a drug. These processes require time and expense, have many well-reported flaws, and deter developers from launching their products here before other countries.
The federal government introduced a National Strategy for DRDs in 2019, committing $1.5 billion over three years to increase access. In March 2023, the first phase began, with Ottawa seeking to reach bilateral funding agreements with the provinces and territories. Under these agreements, each jurisdiction selects DRDs to be funded from a common list that will eventually contain 12 options; currently, eight DRDs are listed to choose from.
By September 2025, nine provinces and three territories had signed on for anywhere from one to eight of the common list drugs, depending on jurisdiction. Quebec, which has its own rare disease policy, signed a March 2025 agreement with Ottawa whereby it will receive funds not tied to the common list. These are slow baby steps towards resolving the significant issue of inadequate and inequitable access to DRDs, and the bilateral approach perpetuates the already existing patchwork.
A real strategy should be more than the federal government’s feeble effort to date. Canadians with rare diseases need laws – as most other developed countries have – to provide resources to motivate research and development in diseases and therapies, and to ensure fair and timely access to innovative treatments that can reduce suffering and even save lives. Rare disease sufferers should not remain orphans of the health-care system.
Nigel Rawson is a senior fellow at the Macdonald-Laurier Institute.
John Adams is co-founder and CEO of Canadian PKU and Allied Disorders Inc., and a senior fellow at the Macdonald-Laurier Institute.
