Funding of expensive drugs for rare diseases (DRDs) requires decisions that balance fairness for all individuals within the healthcare system with compassion for individuals with rare diseases. As there is no universal definition of a rare disease, we applied the average prevalence used in Canada (38 cases per 100,000 people; minimum = 1 and maximum = 50 across jurisdictions) . In Canada’s publicly funded healthcare system, the multiple processes to assess reimbursement of DRDs are generally comparable, but access to specific drugs differs across jurisdictions. The variation can, in part, be attributed to the prevalence of the rare disease in specific provinces or territories . For instance, Alberta defines a rare disease as a genetic lysosomal storage disorder that is prevalent in fewer than 1 per 50,000 Canadians, while Ontario and Saskatchewan define it as a disease with an incidence rate of fewer than 1 in 150,000 live births or new diagnoses annually, and British Columbia consider a rare disease with a prevalence as fewer than 1.7 per 100,000 [2, 3]. The availability of high quality evidence is a challenge due to the low prevalence of these diseases, and manufacturers typically assign high prices to recover research and production related costs .
Even though an increasing number of countries have implemented regulations for the development and market approval for DRDs, Canada does not have national policies or a pan-Canadian legislative framework in place or a reimbursement review process for DRDs. They do, however, exist in five provinces: British Columbia, Alberta, Saskatchewan, Ontario, and New Brunswick . Unlike other provinces with DRD programs, a coverage decision will impact access to the drug for all patients with the rare disease in Ontario, and not an individual patient. Across the programs, a panel or committee that includes at least one disease expert or specialist will review an application to understand the disease severity and alternative treatments, assess the potential effectiveness, or evaluate the budget and cost impact. Submissions by patient groups can also be reviewed. Recommendations will usually include options for coverage with conditions or do not provide coverage. Coverage with conditions usually implies continued monitoring for clinical outcomes or the patient’s response to treatment . Similar to Canada, most 20 OECD countries with a socially funded health care system or universal health care do not have a national program for funding DRDs, except for the United Kingdom. Instead, many apply a “safety net” program or use modified decision criteria when their common drug review processes are insufficient for funding decisions for DRDs .
In 2012, Health Canada presented a draft framework for orphan drug regulatory approval, engaged in a pan-Canadian discussion, and posted it online for comments. The framework aims to develop and implement a comprehensive approach meant to support industry in their submission for market access approval without compromising patient safety. It is based on an integrated approach that incorporates information collected from patients, health care professionals, researchers, payers, and international regulators to enhance the quality of knowledge for decision making and reduce uncertainty. Similar to DRD legislation established by other international regulatory agencies, key components of the framework involve orphan drug designation, regulatory and expert advice and patient representation from Health Canada, and increased transparency in the market authorization process . At the time of our study, the framework had not been finalized.
Paulden et al. conducted a scoping review published in 2015 to identify the medical and grey literature to understand the societal values associated with DRD reimbursement, what potential role they can play, and outlined a decision-making framework that identifies how societal values can be introduced to guide discussions and increase transparency on reimbursement decisions. The authors recognized that there are many places in the decision-making framework where public values are relevant .
Dionne et al. developed a framework to operationalize a multi-criteria decision analysis (MCDA) method that incorporates societal values on drug reimbursement decisions as an alternative to cost-effective analysis . MCDA is used to primarily measure value based on numerous criteria. According to the results of two workshops held in Canada with pharmaceutical, industry, patient, healthcare, and decision-making representatives, ten criteria were identified. They were as follows: comparative effectiveness, adoption feasibility, risks of adverse events, patient autonomy, societal benefit, equity, strength of evidence, incidence/prevalence/severity of condition, innovation and disease prevention/health promotion . In addition to drug reimbursement decisions for common diseases, the authors suggest that this framework is applicable to funding DRDs. At the time of publication, the proposed framework had not been finalized.
Public engagement helps to inform decision-makers about the diverse perspectives of the Canadian population, including differences among stakeholder, patient, and citizen perspectives . Since it is necessary to consider the fair distribution of health services or funds across health needs and how that is to be weighed against access to DRDs, it is important to include citizens or public whose interests are outside the access to DRDs. This broad representation needs to be considered when the trade-offs between providing access for DRDs are weighed against other possible uses (i.e., the opportunity cost) of the health care funds. Wider representation may add legitimacy to decisions and policies by involving diverse citizenry on what counts as fair and reasonable and by adding transparency to decision-making processes [9,10,11].
Survey approaches to identify the perspectives of respondents tend to characterize their views based on a small amount of information. Surveys can be distinguished from deliberative approaches that emphasize well-informed and civic-minded input of diverse, small groups, such as citizen juries and study circles. Careful informing and facilitation of small group deliberation produces advice that balances the diversity of interests to deliver civic-minded recommendations directed to specific decisions or trade-offs. Nevertheless, public views aggregated from a survey reflect help decision makers understand how a wider public might respond to policy changes. They many also be used to inform future deliberative engagement.
The main objective of this study was to engage a diverse sample of Canadians to determine their perspectives, including any regional variations, associated with DRD decision-making, as determined through a national online survey. The responses provided insight into public perspectives related to DRD funding that decision-makers might want to consider when reviewing policies and determining the allocation of scarce resources. This study was reviewed and approved by the University of British Columbia’s Behaviour Research Ethics Board (UBC BREB number H15-02972).