On June 6, 2022, the Ministry of Health and Social Services (“MSSS”) published the Quebec Rare Disease Policy [PDF] (in French only, the “Policy”) based on consultations conducted in recent years. The Policy defines rare diseases as diseases that affect no more than 1 in 2,000 individuals and defines orphan diseases as those for which there is no current treatment. Rare diseases are mostly orphan diseases.
The Policy focuses on three key policy areas and objectives: (1) awareness and training; (2) easy and equitable access to diagnosis, care and services; and (3) promotion of research, innovation and data collection. Thus, the Policy aims to facilitate access to appropriate health care and services for rare diseases that are equitable, inclusive and culturally sensitive. It also aims to optimize the organization of health care and services.
Objective 1: Awareness and Training
Public consultations revealed that rare diseases are often ignored due to a lack of awareness, training and knowledge transfer. To address this, the first objective of the Policy is to:
- Integrate patients, families and organizations into the definition of needs and encourage collaboration between stakeholders and the health network to foster knowledge sharing;
- Improve training for health professionals so that they can quickly detect potential anomalies and symptoms and deepen their knowledge of existing genetic causes, treatments and resources;
- Support the development of clinical tools, reference guides, educational tools and decision-making algorithms in collaboration with experts and the Institut national d’excellence en santé et en services sociaux (“INESSS”);
- Facilitate access to information by centralizing information and making publicly available a list of designated institutions for rare diseases and all relevant information related to the organization of care and services, clinical tools and associations.
Objective 2: Easy and Equitable Access to Diagnosis, Care and Services
Diagnostic error is an issue raised by the Minister’s consultations. The second focus of the Policy aims therefore to:
- Continue to improve and develop the detection and diagnosis of rare diseases and optimize the time before making a diagnosis;
- Structure and update the provision of health care and services for rare diseases in order to improve coordination, use of resources, increase the supply of services and geographical accessibility, including through telemedicine services, among others;
- Improve access to care for dental problems caused by rare diseases through the development of a treatment and prevention programs;
- Provide optimal access to drugs based on an individualized assessment of each patient through the Prescription Drug Insurance Plan, limiting the patient’s financial contribution, and through INESSS’s drug evaluation process with consideration being given to the specific reality of drugs for rare diseases;
- Optimize the transfer of knowledge and pharmacy care pathways by using telepharmacy consultation between experts and community pharmacists;
- Enhance the Quebec Food Program’s offer for the treatment of hereditary metabolic diseases by reimbursing the amino acids needed for treatment;
- Optimize the process for accessing stable blood products not distributed by Héma-Québec by creating a coordination office for transfusion medicine, one of whose mandates would be to coordinate the review and approval processes.
Objective 3: Promotion of Research, Innovation and Data Collection
The public consultations stressed the importance of promotion, research, innovation and data collection as ways to increase treatment opportunities for patients. To accomplish this, the third objective of the Policy is to:
- Create a Quebec registry of patients with rare diseases to improve patient follow-up and monitor the effects of treatments, develop increased research capacity on real data, foster a better understanding of diseases and break the isolation experienced by clinicians and researchers who have only a small number of patients;
- Improve the general conditions of basic and clinical research by pooling data and results, facilitating participation in clinical studies for patients and supporting research projects;
- Facilitate the transfer of knowledge among researchers, clinicians and patients;
- Accelerate therapeutic innovation by supporting the activities of the Réseau québécois de diagnostic moléculaire (Quebec Molecular Diagnostic Network), which allows large-scale decryption and analysis of the human genome and the creation of a clinical and research database in Quebec and possibly across Canada, which will also allow patients to be contacted to participate in research activities.
MSSS has announced that an action plan detailing the measures to be taken to respond to the Quebec Rare Diseases Policy will be published in the coming months in order to meet all of the objectives and disclose the financial measures necessary to implement the plan.
Follow-up will also be carried out after implementation of the action plan focusing on the health and well-being of people with rare diseases in accordance with various indicators that will be established as part of the action plan and its implementation.[i]
[i] The authors gratefully acknowledge the contribution of Alexandra Lemelin, Summer Student.
 In 2011, the Institut national d’excellence en santé et en services sociaux published a report setting out seven main areas for consideration in the development of a Quebec policy on rare diseases. In 2018, the Quebec Working Group on Rare Diseases brought in experts and researchers working with rare diseases to assess the state of the situation internationally and to propose a definition of “rare and orphan diseases”. In July 2020, MSSS established the Quebec Advisory Committee on Rare Diseases, and in January 2022, MSSS conducted a series of consultations with organizations to identify issues facing people with rare diseases in order to optimize health care and services.