Access to drugs for rare diseases (DRD) in Canada: a comprehensive review of the provincial DRD-specific programs

Abstract

Access to drugs for rare diseases (DRDs) in Canada depends largely on the province of living and the specific disease. The federal government and each of the ten provincial governments have their own drug review processes to determine DRD coverage, resulting in a fragmented system. This fragmentation leads to disparities in coverage, delays in treatment access, and exacerbates the challenges faced by patients with rare diseases (RDs) seeking lifesaving treatments. Canada lags behind many developed countries in adopting a national strategy for DRDs. In 2019, the Canadian government announced a plan to develop such a strategy to improve access, affordability, and consistency. A plan was launched in March 2023, though details were sparse. Although a pilot strategy involving two DRDs began in July 2024 through a bilateral agreement between the federal government and British Columbia, there remains an opportunity for Canada to learn from both domestic and international approaches. By examining these strategies, Canada is well-positioned to develop a robust, evidence-based national policy. Employing a qualitative document review approach, this study examined and compared the specific programs that target DRDs, which have been implemented in five provinces—Ontario (ON), Alberta (AB), New Brunswick (NB), British Columbia (BC), and Saskatchewan (SK)—to facilitate access to DRDs. The study, conducted between February 2019 and April 2022, reviewed policy documents related to these programs (referred to as DRD-SPs), as these programs have not been formally evaluated. The review revealed that AB and NB have active DRD-SPs, while ON’s DRD-SP framework has been terminated. Despite reliable sources indicating otherwise, SK does not have a DRD-SP. The status of BC’s DRD-SP, if one exists, remained unclear. The investigation into DRD-SPs demonstrated the creation of an uncoordinated, inefficient, patchwork of programs that often neither covered all DRDs, nor provided clear guidelines for accessing them. These policies lacked defined objectives and performance measures for periodic review. A unified, evidence-based national DRD policy is needed to ensure consistent and timely access, incorporating insights from both domestic and international approaches.

Plain language summary

Access to drugs for rare diseases in Canada: a review of provincial programs

In Canada, access to drugs for rare diseases (DRDs) varies widely by province due to differing provincial and federal drug review processes. This fragmented system results in inconsistent coverage, treatment delays, and increased difficulties for patients needing lifesaving drugs. While Canada has been slow in creating a national strategy for DRDs, a plan was announced in 2019 and a pilot program began in July 2024 with British Columbia. This study reviewed DRD-specific programs implemented in five provinces—Ontario, Alberta, New Brunswick, British Columbia, and Saskatchewan. It found that Alberta and New Brunswick have active DRD programs, Ontario’s program has ended, and Saskatchewan does not have a DRD program. The status of such a program in British Columbia is unclear. The review highlighted the lack of transparency, coordination, and efficiency in these programs, noting that they often do not cover all DRDs or provide clear access guidelines. To address these issues, a unified, evidence-based national policy is needed to ensure consistent and timely access to rare disease treatments.

Keywords

access document review drug program drugs for rare diseases health care orphan drugs patient engagement policy rare diseases reimbursement

Introduction

Drug policy is multidimensional and complex, particularly in terms of governing access to high-cost drugs such as drugs for rare diseases (DRDs), also known as orphan drugs. The ongoing increase in healthcare expenditure in the last two decades,^1,2 coupled with the increasing numbers of new DRDs,³ emphasize the need to develop and employ measures and methods to assess the impact of policies and programs that facilitate access to these drugs. Globally, the challenge of ensuring equitable access to DRDs affects patients, payors, and policymakers, prompting many countries to establish national DRD policies and programs.

In Canada’s decentralized, universal healthcare system, each of the provincial, territorial, and federal governments has their own mechanisms and health technology assessment (HTA) products and methods that are used to determine which drugs, including DRDs, will be covered.

The process for introducing new therapeutic products to Canada starts with a regulatory review by Health Canada, the federal Ministry of Health. Following Health Canada’s approval for a drug to be used in Canada, the Canadian Agency for Drugs and Technologies in Health (CADTH)—which officially became the Canada Drug Agency (CDA) in September 2024—conducts a Common Drug Review (CDR) to evaluate each drug’s clinical and cost-effectiveness.⁴ The CDR provides reimbursement recommendations and advice to all provinces and territories, except Quebec, which uses recommendations from the Institut national d’excellence en santé et en services sociaux (INESS). However, provinces and territories are not bound by the CDR recommendations when making their drug plans and funding decisions.⁴ Each jurisdiction has its own drug review process for determining which drug, including those for rare diseases (DRDs), will be covered. This fragmented drug review system has led to disparity in drug coverage and access to therapy, especially access to DRDs.^5,6 Access to DRDs in Canada depends largely on the province in which a person happens to reside and the specific disease they were born with.

In the absence of a national strategy for reviewing and evaluating drugs for rare diseases (DRDs), several Canadian provinces—Ontario (ON), Alberta (AB), Saskatchewan (SK), British Columbia (BC), and New Brunswick (NB)—have introduced DRD-specific programs (DRD-SPs) over the past two decades to manage DRD evaluation and access. These programs, as highlighted in literature published between 2000 and April 2022, differ in their review and reimbursement mechanisms and criteria. However, their operational efficiency and impact remain unassessed, leaving a gap in understanding their effectiveness in enhancing DRD access and supporting patients and their families. The remaining five provinces—Manitoba (MB), Newfoundland and Labrador (NL), Nova Scotia (NS), Prince Edward Island (PE), and Quebec (QC)—continue to evaluate DRDs on a case-by-case basis, as indicated in the same body of literature.^7–9

Beyond government mechanisms, interprovincial initiatives led by nonprofit organizations also play a role in enhancing access to rare disease therapies. For example, Canada Blood Services (CBS), a nonprofit governed by provincial ministries of health, manages a national formulary for blood disorders, including treatments like factor replacement and emicizumab for Hemophilia A. CBS formulary decisions are informed by CADTH HTAs and finalized by a governing board of provincial Ministry of Health (MoH) representatives through majority vote.¹⁰

While these programs and initiatives aim to improve access to life-saving therapies, the fragmented and multilayered healthcare system has exacerbated challenges for rare disease patients. Navigating this complex system often results in delays and inconsistencies in accessing essential treatments, further complicating the journey for patients and their families.^6,8

Canada has lagged behind many other countries in terms of developing a coherent national strategy for managing the availability of and accessibility to DRDs. Discussions on whether to implement a pan-Canadian rare disease framework have been ongoing for more than 25 years.¹¹ In 2019, the Canadian government announced its intention to establish a National Pharmacare program to ensure the affordability and accessibility of prescription drugs for Canadians.¹² This national pharmacare program includes a National Strategy for High-Cost Drugs for Rare Diseases and aims at providing Canadians with rare diseases with more consistent and timely access to the drugs they need.¹³

In March 2023, Canada’s Health Minister announced a new National Strategy for DRDs, supported by a $1.5 billion investment over 3 years. This strategy aims to improve access to and affordability of treatments for rare diseases across the country. It includes up to $1.4 billion for provinces and territories to enhance access to both new and existing drugs, as well as to support early diagnosis and screening. Additionally, $68 million is allocated to initiatives for better evidence collection, advancing research, and establishing governance structures.^14,15 While a preliminary plan was announced in March 2023, specific details were sparse. The strategy officially commenced in July 2024 with a bilateral agreement between the federal government and British Columbia to pilot the approach with two DRDs. Progress has been slow, and transparency has been limited—Health Canada has disclosed only that the strategy includes a list of 12 DRDs and focuses on collecting real-world evidence to support reimbursement decisions.

Canada is still in the early stages of developing this newly initiated strategy and remains well-positioned to refine and build upon the current framework. By leveraging global best practices and insights from provincial programs for managing rare diseases, Canada can strengthen its approach.

This study builds upon existing research on DRDs in Canada and works to address gaps in the existing knowledge base when it comes to access to treatment. Stakeholders and academics have identified various issues with the existing approach to accessing and funding DRDs in Canada, including disparities in reimbursement decisions, uneven access to DRDs across provinces,¹⁶ a lack of transparency with respect to funding decisions, and a lack of patient engagement.^17–19

The study involved a document review of the DRD-SPs implemented in five Canadian provinces. The review aimed to examine and compare the policies and programs managing access to DRDs in these provinces, with the objective of updating, enhancing, and challenging current understandings of these programs. Ultimately, the findings are intended to provide valuable lessons and serve as a resource for informing the development of the national strategy. Additionally, this study offers baseline data for comparing the strategy’s postimplementation outcomes, assessing its efficacy, and identifying areas for improvement.

Methods

Through qualitative document review of the policies and programs that manage access to DRDs, this study examines and compares existing programs that specifically target DRDs in the five provinces in which they have been implemented.

Document review (also called document analysis) is one of the commonly used qualitative research methods in health policy analysis.^20–22 It involves a process of systematic data collection, thorough reading, examination, and analysis of electronic and printed documents relating to a program or an organization analysis.^20,22 Such documents include policy directives, research and media reports, operational plans, laws, regulations, scientific or peer-reviewed publications, newspaper and magazine articles, and meeting minutes analysis.^21–23

Document review is often employed by policy researchers to gain insights into policy processes and content over time and across different regions analysis.²¹ It can be employed as either a standalone method or in conjunction with other qualitative research techniques, such as interviews, focus groups, and observational studies. Triangulating document review with these additional methods helps cross-validate findings, minimize bias, and enhance the reliability and credibility of the results analysis.^20–22,24 In this study, the researcher employed triangulation within the document reviewed by examining different types and sources of documents, including policy documents, published articles, and governmental websites relating to DRD-SPs.

Data collection procedure

Information and data sources

Data for this study were collected through a review of DRD-specific policy documents and a literature review. The primary source for document review was official DRD-related policy documents obtained from provincial government websites and through Access to Information (ATI) requests sent to the relevant MoHs. These documents helped update and refine our understanding of DRD-specific policies, supplementing evidence from other sources.^22,25

The second data source consisted of published materials on DRD access policies, programs, and research in Canada, including academic and medical journals, local press articles, and online resources from rare disease organizations. Literature published between January 2000 and April 2022 was reviewed, alongside gray-literature reports issued by the government and available on the internet.

The literature review involved examining articles, books, and reports from databases such as Google Scholar, PubMed, Orphanet, and websites of organizations such as the Canadian Organization for Rare Disorders (CORD), National Organization for Rare Disorders (NORD), and relevant Ministries of Health. The search included terms such as “rare disorder,” “rare disease,” “ultra-rare,” “orphan drugs,” “drugs for rare diseases,” “decision-making,” “reimbursement,” “national plan,” “policy,” “strategy,” and “program.” Sources were assessed for relevance to the study’s objectives, with exclusion of materials lacking publication dates, unpublished reports, and conference abstracts.

Access to information request

Following ethics board approval in February 2019 (Supplemental Appendix 1), access to information requests were submitted to the MoHs in the five provinces (i.e., ON, AB, SK, BC, and NB) that have implemented DRD-SPs (Supplemental Appendix 2). These requests were related to gaining access to policy and procedure documents that describe each DRD-SP’s operational and performance goals, the measures it employed, its guiding principles, and the extent to, and ways in, which patients engaged in the drug-evaluation programs and decision-making processes. In so doing, this analysis sought to identify the strengths and limitations of existing DRD-SPs and highlight similarities and differences between the design and performance management of these programs that shape provincial coverage decisions for DRDs. Four health ministers in AB, NB, SK, and ON responded and provided the requested information; however, while BC confirmed receipt of the request and despite repeated follow-ups, they did not provide any information.

This definition of a DRD-specific “program,” included in the letter sent to the MoHs, refers to a formal mechanism specifically for reviewing and funding DRDs. It was used to distinguish these programs from general case-by-case access mechanisms and to guide our data collection (See Supplemental Appendix 2).

It is important to note that the study initially aimed to include a quantitative assessment of DRD-SPs’ performance by analyzing preexisting data from these programs over a five-year period before and after their implementation. The requested data included several measures, such as the yearly number of orphan drug applications and rejections (with rationales for rejections), the yearly number of patients receiving DRDs, and funding decision timelines. The selected performance measures for this analysis were based on the CADTH’s impact and evaluation framework, which assesses the operational efficiency of the pan-Canadian Oncology Drug Review (pCODR). However, the quantitative analysis could not be completed due to the unavailability of key performance data. This shortfall was attributed to inadequate tracking by provincial MoHs (e.g., NB, SK, ON, AB) and stringent privacy policies that restricted data sharing.

Obstacles to accessing policy documents across provinces

The unavailability of some or all requested documents constituted a significant barrier to accessing the qualitative data needed for reviewing DRD-SP policies and procedures. Many DRD-related policy documents are not publicly available on government websites and required formal information requests.

Access remained challenging even with requests. In BC, for instance, data collection was difficult due to unresponsive follow-ups, with no information provided as of April 2022. In Ontario, the MoH confirmed that the DRD-SP program had been terminated by the time of the request. In SK, the MoH denied the existence of a DRD-SP, contradicting published literature and reliable sources like CADTH, which indicated the presence of such a program.

Overall, the inability to access these policy documents limited the study’s capacity to conduct a comprehensive comparative analysis of DRD-SPs across these provinces.

Statistical analyses

Despite the widespread use of document review in qualitative policy research, little guidance and consensus are available regarding how the documents are to be reviewed and appraised analysis.²¹ The method of analysis of collected documents generally depend on the question(s) and objective(s) of the research. Documents can be analyzed using two methods: (1) a thematic analysis which is used mostly when document review is used as the sole source of data, and (2) a systematic, open-ended textual analysis, that is utilized when data are used as a source of background information or for tracing historical information and facts about operation of a program and/or the organization in which a program operates analysis.^23,24,26 In this study, a systematic textual analysis was applied to all collected documents to inform the understanding of existing drug policies and programs that govern access to DRDs in Canadian provinces.

Results

This section presents the key findings of DRD-SPs across five provinces in Canada, with a juxtaposition of the literature and findings obtained through ATI requests:

Ontario

The scholarly literature published between 2000 and 2022 indicated that the MoH in ON developed a framework for DRDs in 2007 analysis.^{4,8,9,17,27,28} This framework constituted an innovative and comprehensive approach that used the best available clinical evidence and patient needs to predict the potential benefits of new treatments and make reimbursement decisions.^9,28 The literature revealed that Ontario’s DRD-SP involved a strategic policy that thoroughly described its goals, guiding principles, and an innovative DRD review and evaluation framework.

In 2007, the Ontario Public Drug Programs established the Drugs for Rare Diseases Working Group (DRDWG) to develop a process for reviewing and funding drugs with limited clinical evidence based on principles of fairness, transparency, and consistency. The group’s goal was to address the unique aspects of DRDs that treated specific rare conditions. The working group created a framework complementary to the existing policies of the Ontario Public Drug Programs and the Ministry. Ontario’s Drugs for Rare Diseases Evaluation Framework (DRDEF) was then developed as an evidence-based framework for evaluating DRDs. It included seven sequential evaluative steps to assess both the effectiveness and cost-effectiveness of the drug.^9,17,28 The evaluation was conducted by five members of the Working Group: two physicians, an economist, a pharmacist, and a geneticist.

The ON Public Drug Programs evaluated this framework through a case study focused on idursulfase—an enzyme replacement therapy (ERT) for Hunter syndrome, a debilitating and potentially fatal metabolic disorder affecting children. Based on the DRDEF’s assessment, idursulfase, which had previously received negative reimbursement recommendations from the Committee to Evaluate Drugs (CED—The CED is an independent expert advisory committee on drug-related issues of the Ontario Ministry of Health. It makes recommendations for drug funding to the Ontario Public Drug Programs based on the clinical, safety, and cost-effectiveness data⁹), was accepted for coverage in ON.⁹

The framework also led to an agreement with the manufacturer regarding drug cost coverage for idursulfase. The manufacturer agreed to cover the drug’s cost for patients younger than 6 years old who were identified as potentially benefiting from the medication. Conversely, ON’s public funding covered the drug’s cost for patients older than 6 years who had no neurocognitive complications.²⁹

Ontario’s DRDEF was designed to be adaptable to other rare diseases based on the principles of “accountability for reasonableness,” which considered the best achievable and available evidence, patient need, and existing funding gaps, providing ethical guidance for making challenging funding decisions within tight budgets.^8,9 Guided by these principles, the framework made the review steps of each request and the rationale behind reimbursement decisions publicly available. It also provided a mechanism for patients to appeal drug funding decisions, allowing them to appeal decisions and have their requests reconsidered.^8,9

There were no restrictions on the types of rare diseases that could be considered and evaluated under Ontario’s DRDEF. This framework was used to evaluate eight rare diseases, including six rare inherited metabolic disorders, one malignancy, and two uncommon idiopathic conditions. For five of the drugs, reimbursement was recommended, and risk-sharing agreements were negotiated with the manufacturers, leading to funding for these specific drugs. Two drugs were deemed ineligible based on predefined exclusion criteria, and one drug was not recommended for reimbursement due to insufficient data on the disease’s natural history. For the five approved drugs, 32 patients were reimbursed, while five were denied based on predefined eligibility criteria.²⁸ Notably, Ontario had one of the few provincial rare disease programs that collected patient input and feedback on the DRD review and evaluation in its sixth step, prior to the final funding decision.⁹

ATI findings

An ATI request in 2019 revealed that the DRD-SP had been terminated and that the MoH was now relying on CADTH recommendations for DRDs. No further documentation was available from the MoH, despite the framework’s significant role in prior literature. The MoH recommended consulting publications by Winquist et al.^12,28 for background information on the terminated framework (Supplemental Appendix 3). Consequently, existing literature became the sole source of information about ON’s DRD framework. The termination of this program, which was intended to serve as a blueprint for other provinces, was not publicly disclosed. The reasons and exact timing of the program’s termination remain unclear.

Alberta

The AB government website and published literature from 2000 to 2022 indicated that AB established the Rare Disease Drug Program in 2009 in response to compassionate demands and pressure to provide access to high-cost DRDs. This program defines rare diseases as “genetic lysosomal storage disorders occurring in fewer than one in 50,000 Canadians” (p. 3; p. 2).^27,30 It covers drugs for five rare metabolic disorders: Gaucher, Fabry, Hurler, Hunter, and Pompe Diseases.^27,30,31 Under this program, access to DRDs begins with the patient’s physician submitting an application on behalf of their patients. These applications are reviewed by treating specialists and other clinical experts appointed by the Ministry under Alberta’s Rare Disease Clinical Review Panel. Both initial requests and renewal applications must be completed by a rare disease specialist using a specific drug-coverage application form. Approvals, including renewals, are granted for a maximum of 12 months.^30,31 Before the drug review, the patient must consent to certain terms and conditions related to drug coverage, such as conditional approval based on clinical outcomes and ongoing monitoring. Drug coverage may be discontinued if there is no improvement in the patient’s condition or if it deteriorates.²⁷

ATI findings

Documents obtained from the government of AB through the ATI request confirmed that the program’s definition of rare diseases and its coverage limitations remain valid. Additionally, the request revealed that coverage for other DRDs is processed through the Short-Term Exceptional Drug Therapy (STEDT) program. The STEDT program provides access to therapeutic drugs for serious or life-threatening diseases not covered by the Rare Disease Drug Program. It operates on a case-by-case basis, considering drugs when conventional therapies are unsuitable, unavailable, or have failed, and when the costs are prohibitive (Supplemental Appendix 4).

New Brunswick

The NB government established the NB Drugs for Rare Diseases Plan in 2014 to facilitate access to high-cost DRDs, primarily focusing on metabolic disorders. According to the government website and literature published between 2000 and 2022, this program was created in partnership with Ontario and covers the costs of DRDs reviewed and approved through Ontario’s DRDEF.³² Under this DRD plan, drug coverage requests in NB must be submitted by the patient’s treating physician. These requests are assessed by external medical experts from the Ontario Public Drug Program. The NB DRD plan covers drugs for six rare diseases: five metabolic disorders (Hurler, Hunter, Pompe, Maroteaux–Lamy syndrome, and Niemann–Pick Type C Diseases) and one nonmetabolic disorder, Ilaris (canakinumab), used to treat cryopyrin-associated periodic syndrome (CAPS), Muckle–Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID).³³ Initial drug coverage is granted for one year. To renew coverage, the treating physician must submit clinical documentation demonstrating the patient’s improvement to the MoH.³³ No further detailed information about the program is publicly available.

ATI findings

Documents obtained through the ATI request confirmed the information found in published literature about the NB DRD plan. The NB DRD plan, similar to Alberta’s, is brief and lacks clear objectives, access guidelines, guiding principles, and performance measures. It includes a brief description of eligibility criteria and a list of six covered drugs, which were evaluated through Ontario’s DRDEF due to a 2014 partnership. The response also confirmed that the evaluation of new DRDs has transitioned to the Common Drug Review (CDR) conducted by CADTH since the termination of Ontario’s DRDEF (Supplemental Appendix 5). New DRDs, beyond the original six, are now evaluated and listed on the NB Drug Plans Formulary similarly to non-DRDs.³³

Saskatchewan

DRD-related literature indicates that SK has an Expensive Drugs for Rare Disease (EDRD) program that works to facilitate access to drugs for rare diseases that occur in less than 1 in 150,000 Canadians.^8,27 The final decision-making power for drug reimbursement rests with the MOH.^8,27 No information about this program (e.g., objectives, eligibility criteria) was publicly accessible through literature and the MoH’s website.

ATI findings

Although reliable sources indicate that SK has a DRD-specific program and strategy (e.g., Menon et al.,⁸ Canadian Agency for Drugs and Technologies in Health²⁷), the SK’s MoH information request response confirmed that the SK government does not have a specific program for DRDs. There is, however, a patient adviser on the Drug Advisory Committee of Saskatchewan (DACS). This committee provides the MoH with independent specialist advice on drug-related matters, which can include opinions from external consultants to complement the committee’s expertise. The DACS has its terms of reference that describe its mandates, responsibilities, accountability, operations, and membership (Supplemental Appendix 6).

British Columbia

Literature, such as CADTH (2016, 2018), Douglas et al.,¹⁷ and Menon et al.,⁸ indicates that BC has a special program for DRDs designed to facilitate access to costly drugs for diseases that are generally debilitating and terminal. This program operates under the Expensive Drugs for Rare Disease Advisory Committee (EDRD), which provides reimbursement recommendations to the MOH who holds the final decision-making power related to drug reimbursement. The EDRD is a multidisciplinary committee comprised of physicians, pharmacists, ethicists, health economists, and representatives from the provincial drug plan program.^7,8 Currently, only Myozyme, a drug that treats infantile Pompe disease (a metabolic disorder), is listed on the provincial formulary. All other orphan drugs are reviewed through the EDRD, which follows specific treatment guidelines and criteria to make funding recommendations. To be considered for review by the EDRD, a drug must have an annual cost of more than CDN $50,000 per patient and must treat a noncancer-related disease with a prevalence of less than 1.7/100,000 Canadians. The criteria for reimbursement decisions include the severity of the disease, the drug’s clinical effectiveness, and the availability of alternative therapies.^4,8 All DRD-SPs require a specialist physician to initiate a drug request application on behalf of the patient, which is then reviewed by the EDRD. Final decisions, typically made by the MoH, entails a recommendation to either “provide coverage with conditions” (i.e., regular monitoring of clinical outcomes) or “not provide coverage” (i.e., as in the case of patients with poor prognosis) (p. 23).⁸ Furthermore, these DRD-SPs require specialist physicians to complete extensive administrative documents every 6–12 months to ensure drug funding renewal.⁷

ATI findings

As of April 2022, no response was received from the Ministry of Health in British Columbia, despite confirmation of receipt of the ATI request. This lack of response raises doubts about the existence of the DRD-SP in BC as described in the literature, suggesting a possible discrepancy between documented programs and actual implementation, similar to SK’s situation.

Discussion

The investigation into the DRD-SPs revealed that only AB and NB have DRD programs. A review of their policies indicated that these documents represent a level of operational policy, which outlines workflows and procedures guiding daily operations.³⁴ The policies briefly describe eligibility criteria for DRD coverage, and the specific drugs covered under these programs, and the procedures for drug application and review.

These documents, however, lacked critical components such as the programs’ objectives, guiding principles, follow-up on drug applications, and timelines for decision-making. They also did not include performance measures or indicators of operational efficiency, with no information on patient engagement methods or scope. This omission leaves significant gaps in transparency and accountability, making it difficult to evaluate the programs’ effectiveness, ensure timely access to drugs, or involve patients meaningfully in the decision-making process. As a result, these policies present an inefficient approach to managing the multifaceted, complex regulatory process associated in DRD accessibility to DRDs in Canada.

Nevertheless, the review of these policy documents revealed new information about the programs that extends beyond existing literature. The findings revealed that ON has terminated its DRD-SPs and that SK never had a DRD program. This contradicting information and lack of transparency has created uncertainty about whether a DRD program actually exists in BC, especially since the published literature relies on personal communication rather than formal government sources. SK’s case illustrates the discrepancy between published literature and official government information, while the unannounced termination of Ontario’s DRD framework exemplifies the opacity in the Canadian system, despite a 2018 government publication confirming its existence.

The absence of predefined performance measures, as indicated by MoHs, underscores a critical gap, confirming the inefficiency of these initiatives. These programs appear to have been reactive measures aimed at addressing significant gaps within a fragmented and opaque system.

The performance measures used in this study—such as the number of DRDs approved versus rejected, the rationale for negative decisions, the inclusion of specific DRDs under particular categories, and the timelines for funding decisions—were selected for comparative analysis across provinces. However, the findings highlight the pressing need for a comprehensive set of performance metrics in the newly established national strategy for DRDs. Such metrics would facilitate ongoing evaluation, program improvements, and alignment with evolving patient and system needs. These measures should consider the financial pressures Canadian governments face in managing DRDs. Rising costs, as evidenced by the increasing proportion of public drug plan expenditures over the past decade,^1,2 necessitate difficult trade-offs. Therefore, performance measures must extend beyond simplistic metrics to account for broader considerations, including equitable access, cost-effectiveness, and clinical benefit. A more nuanced and holistic approach is vital for creating meaningful metrics that address the complexities of DRD program evaluation and support sustainable healthcare outcomes.

Overall, the study revealed a lack of transparency within governmental systems in Canada and highlighted a fragmented patchwork of programs that often neither cover all DRDs nor provide clear guidelines for reviewing and accessing orphan drugs or engaging patients in drug review and reimbursement processes. The research highlighted a broken system where DRD-SP-related policies lack clear objectives and performance measures, hindering effective review and updates in response to ongoing evaluations. Despite their intent to facilitate access to DRDs, the policies and programs that have been in place for several years were poorly designed and formulated, rendering their impact questionable at best.

By identifying the flaws and weaknesses of the DRD-SPs, this research offers valuable insights, raises awareness, and underscores the need for policymakers to adopt effective transparent approaches within the national strategy for rare diseases in Canada. The findings highlight the necessity for a strategic, comprehensive policy that incorporates a more effective and sustainable program, with clear goals, core principles, and performance targets. Embedding success measures and operational efficiency markers in the strategy would facilitate continuous evaluation and improvement of the DRD program.

Additionally, there is a critical need for an approach that bridges the gap between the needs of rare disease patients and the existing system. DRD policies should incorporate a structured framework for meaningful patient engagement throughout the DRD lifecycle, including regulatory review and reimbursement decision-making processes. This ensures alignment with the needs and expectations of primary stakeholders—patients and families living with rare diseases. A well-structured patient engagement framework can facilitate communication between patients, families, advocacy groups, and governmental officials. Engaging patients in the drug evaluation process to gather real-world evidence helps reduce uncertainties surrounding the clinical benefits of DRDs, given the inherent challenges of conducting clinical trials on small patient populations.^17–19 Ultimately, organized and meaningful patient engagement supports health officials in reimbursement decision-making.^17–19 Furthermore, such a framework would provide valuable insights into areas of the national strategy needing improvement, enhance patient care and health outcomes, and improve the monitoring of institutional performance.

Strengths and limitations

The examination of DRD programs and policies across provinces presents several limitations.

A major limitation of this study was the lack of access to policy and procedure documents from some provinces, particularly ON and BC. The absence of these documents hindered a thorough examination of the DRD-SPs and policies, necessitating reliance on previous literature to examine these programs. Although this literature provided a substitute for the actual policies and facilitated comparisons, it was not as comprehensive as direct access to primary documents. Additionally, the scarcity of robust literature on DRD-SP in BC further limited the study. This issue has been acknowledged by other researchers, who have relied on personal communication to gain insights into BC’s DRD program.⁸

Another limitation was the lack of a complete set of quantitative data on key performance measures and indicators for existing DRD-SPs. The absence of this data precluded a quantitative analysis of the programs’ performance and effectiveness. This limitation underscores the need for robust systems to continuously monitor, evaluate, and optimize DRD review programs and policies.

Moreover, the data collected for the document review in this study spans from the year 2000 to April 2022. Consequently, the study does not incorporate any literature published after this period, which may render its findings somewhat outdated. However, the study provides a comprehensive review of various sources and uncovers previously unknown facts about the Canadian DRD programs. It also highlights a lack of transparency in the Canadian system that casts doubt on the reliability of even well-regarded sources. The contradictions and gaps in information regarding the DRD programs underscore the need for improved transparency within the Canadian system. Such improvements are crucial for enhancing the performance of these drugs programs and positively impacting patient health outcomes.

A further limitation was the adaptation of our analysis methodology due to the content and design of available policy documents. Initially, we intended to use a structured framework for policy evaluation, but the brief and operational policies did not lend themselves to traditional evaluation methods. As a result, we employed a flexible document-based approach, specifically document review, using narrative textual analysis to interpret the policies and compare them with existing literature. While this allowed us to derive meaningful insights and updated information, the absence of a structured framework may limit the generalizability of our findings.

Despite these limitations, the study revealed several notable strengths. It uncovered new information regarding the termination of ON’s DRD-SP, a detail was heretofore not stated anywhere, including ON’s government websites. The research also confirmed the absence of a specific DRD program in SK, contradicting previous reports indicating the existence of such a program.

Another strength of this study is the new knowledge gained regarding the absence of strategic policies for the DRD-SPs across Canada and the demonstration of the use of operational policies and guides to fill existing gaps in public drug funding plans.

Recommendations for further research

The findings from this study on DRD-SPs underscore the importance of further research to address existing gaps and enhance Canadian public health policy. Specifically, this study highlights the need for additional research into programs and policies designed to facilitate access to DRDs in other jurisdictions. Future research should concentrate on several key areas: (1) core principles used to guide the DRD-related programs in other jurisdictions, and the ways in which they approach and address the needs of patients with rare diseases, (2) scope of patient engagement in drug-evaluation and regulatory decision-making processes, and the methods employed to facilitate this engagement; and (3) institutional approaches used to inform how DRD-related programs perform, measures of success and markers of operational efficiency employed to evaluate and shape program performance, and the specific outcomes achieved because of these programs. Future research is necessary to develop valid, quantifiable, and reproducible metrics for the national strategy for DRDs. The work presented in this research provides a foundation for this development process.

Conclusion

This study on DRD-SPs reveals critical insights into the state of programs designed to facilitate access to DRDs in Canada over the last few decades. The analysis highlights a fragmented, mysterious, and patchwork system that impedes timely and equitable access to life-saving treatments. The findings underscore the need for a more transparent, coordinated, and effective approach that includes clear evaluation metrics and a well-structured patient engagement framework.

Learning from both national shortcomings and international models can guide the development of a comprehensive, evidence-based national DRD strategy. This strategy must ensure consistent, fair, and timely access to treatments across all provinces, ultimately enhancing care and outcomes for the approximately three million Canadians living with rare diseases.

Supplemental Material

sj-pdf-1-trd-10.1177_26330040251335660 – Supplemental material for Access to drugs for rare diseases (DRD) in Canada: a comprehensive review of the provincial DRD-specific programs

Supplemental material, sj-pdf-1-trd-10.1177_26330040251335660 for Access to drugs for rare diseases (DRD) in Canada: a comprehensive review of the provincial DRD-specific programs by Nahya Awada in Therapeutic Advances in Rare Disease

Footnotes

Acknowledgements

The author extends her sincere gratitude to the Ministers of Health in ON, AB, SK, and NB that supported this study and provided information and data, through which the study obtained valuable and important updates.

Declarations

ORCID iD

Nahya Awada

Supplemental material

Supplemental material for this article is available online.

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