Rare Disease Management: Experiences from Abroad

08-29-2011 | Modes d'intervention en santé

Rare diseases encompass genetic diseases, rare cancers, auto-immune disorders, congenital anomalies, toxin-induced diseases, infectious and other diseases. These diseases are often severe and debilitating, most often appear very early in life, may be associated with chronic pain and may not have any curative treatment. They often reduce people’s autonomy and quality of life, while placing a heavy burden on families and caregivers, and also affect life expectancy. According to the definition prevailing in Europe, a disease is considered rare when it affects no more than one in 2000 people.

In order to provide coordinated and effective treatment for rare diseases on a national scale, we must first analyze current practices and needs, then establish a committee to develop a plan, and finally implement and follow up on the plan. Measures must include performance indicators to permit periodic evaluation of the plan. This process must be thorough and completed in collaboration with all stakeholders, including experts, health professionals, institutions, the industry and patients (or patient associations).

This report synthesizes the main action areas in the field of rare diseases observed outside Québec, whether or not part of an overall plan. These areas cover screening and diagnosis, epidemiology, patient management and access to care, improvement of treatments and access to appropriate drugs (including orphan drugs), health professional development, research and information.

REF206

Subscribe to our newsletter now

Subscription