Québec faces a number of issues regarding rare diseases, but initiatives are underway to address them. About 7,000 rare diseases affect a small portion of the population, often making it difficult to diagnose and get access to complex treatments. Here are some key points:
- Québec has implemented measures to improve access to care for people with rare diseases, but gaps remain, including early diagnosis and follow-up.
- Specialized reference centres have been set up to better manage these diseases, but their availability varies by region.
- Government and various organizations support research on rare diseases, while also raising awareness among the public and health professionals.
- Resources and support are available to families, but there is an increased need for psychological and social services.
- The creation of databases on rare diseases provides a better understanding of their prevalence and helps inform public policy.
Continued efforts are needed to improve the situation for patients and their families.
Overview of the situation
The portrait of rare diseases in Québec is characterized by several key elements:
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Incidence and prevalence:
About 1 in 20 people are affected by a rare disease, which represents about 400,000 people in Québec. Although most rare diseases are individual, their diversity means that thousands of new cases can emerge each year. Prevalence varies by disease, with some more frequent in certain populations.
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Characteristics:
Rare diseases include genetic, metabolic, neurological and immune-related disorders, among many others. About 80% of rare diseases have a genetic origin. These diseases can affect all age groups, although they are often diagnosed during childhood.
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Epidemiological challenges:
Many cases remain undiagnosed or misdiagnosed, making it difficult to accurately estimate incidence and prevalence. Data may be incomplete due to lack of awareness and expertise in detecting these diseases.
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Resources and studies:
Studies are underway to better understand the epidemiology of rare diseases in Québec, with research initiatives aimed at establishing registries and databases to collect more comprehensive information. The epidemiology of rare diseases in Québec is marked by challenges related to diagnosis and data collection. Ongoing efforts are needed to better understand the incidence and prevalence of rare diseases to improve patient care and support.
Standards and obligations
In Québec, standards and obligations for rare diseases are governed by several laws and policies. Key aspects include:
The regulatory framework for rare diseases in Québec aims to ensure equitable access to care and treatment, while supporting research and protecting patient rights. Ongoing efforts are needed to bolster these initiatives and improve the quality of life of those affected.
Good practices
There are a number of good practices internationally that focus on innovative strategies and approaches to manage rare diseases. Notable practices include:
Best practices for rare disease management are based on an integrated approach that combines care, research, awareness and collaboration. These strategies contribute to improving patients’ quality of life and driving meaningful advances in the field.
Available resources
References to relevant literature and resources on rare diseases and related interventions and actions include:
Works:
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Rare Diseases: A Global Perspective, Paolo P. F. F. A. De Marco et al.
This book covers global challenges related to rare diseases, exploring health policy and intervention strategies. -
The Rare Disease Patient Journey, Rachael M. Franks et al.
This book studies the journey of patients with rare diseases, focusing on best care practices. -
Handbook of Rare Diseases, Michael R. Kelly et al.
A comprehensive resource that details various rare diseases, treatments and associated clinical approaches. -
Rare Disorders and Orphan Drugs: A Global Perspective, C. K. Chawla et al.
This book discusses orphan drugs, health policies and ethical issues related to rare diseases.
Digital resources:
- Orphanet: an information portal on rare diseases and orphan drugs, providing data on research and available resources.
- European Organization for Rare Diseases (EURORDIS): an organization representing rare disease patients in Europe, providing resources, studies and reports.
- National Institutes of Health (NIH) – Genetic and Rare Diseases Information Center (GARD): a resource dedicated to information on rare diseases and genetic conditions, providing data on treatments and research.
Scientific articles:
- Current and Emerging Therapies for Rare Diseases, Journal of Rare Diseases
This article reviews current and emerging therapies for rare diseases, with a focus on innovations in the field. - Patient Advocacy and Rare Diseases, Health Policy
A study that explores the role of patient advocacy groups in raising awareness of rare diseases and improving care for those affected.
These resources provide essential information on rare diseases, their treatments and best practices for intervention. They are particularly useful for health professionals, researchers, and families affected by these conditions.
Written by André Prévost of COPHAN, supported by artificial intelligence.
