Definition of rare diseases
A rare disease is defined by its prevalence threshold. This means the number of patients that are affected by this disease at a given time. In Switzerland and the EU a disease is defined as being rare if five or less people of 10’000 inhabitants are suffering from a specific disease. Today, 7000 to 8000 rare diseases are known worldwide. Most of the rare diseases are hard to diagnose. In total, alone in Europe more than 30 million people suffer from a rare disease. The spectrum of the disease is very large; it encompasses metabolic disorders, disorders of the blood or immune system and illnesses of certain tissues. A majority of these diseases are genetically determined hereditary diseases. Thus, they not only affect the ill person but also the family members. Most of the illnesses are already present during infancy or childhood.
Characteristics of rare diseases:
- Rare diseases usually only occur once a year at a normal GP’s office. That is why rare diseases are not well known to a GP and are often wrongly diagnosed. For this reason it can take a long time, often several years, until a patient receives the correct diagnosis. This not only creates suffering for the persons affected but is also very costly.
- Rare diseases are often life threatening or lead to a chronic disability and necessitate a specific treatment.
- Rare disease most often incur a challenging diagnosis and treatment.
With the advances in diagnosis of rare diseases and the development of corresponding therapies, new challenges arise for the healthcare system. The optimal treatment must be ensured, that is why politics must act. The politicians must guarantee that the advances in medicine can be efficiently promoted and made use of for affected patients.
A national plan of activities for Switzerland
In November 2010 Ruth Humbel, National Councillor, submitted a postulate asking the Federal Council to devise a national strategy including measures for the issue of rare diseases. The Federal Council accepted the postulate and mandated the Federal Office of Public Health to draft a proposal.
The postulate „National Strategy for the improvement of people’s health-related situation that are affected by rare diseases” was signed by 40 other MPs and demands the following:
- Ensure unified coding of the diseases (ICD) as well as registration of affected people in a national database for knowledge management and transfer regarding diagnosis, progression of the disease and its treatment;
- Support for an optimal collaboration of healthcare professionals, people in primary care, patient organizations and the responsible persons in healthcare services and management;
- The creation and support of national competence centers;
- The collaboration with European and international reference centers and networks;
- Equal access to diagnosis and effective therapies;
- The priorization of rare diseases in basic and clinical research.
On 15 October the Federal Council adopted the National Concept Rare Diseases with the objective to ensure a treatment of high quality for all patients in Switzerland.
The concept encompasses 19 measures that are divided into 7 different categories. The main element is the creation of reference centers for diseases or disease groups that shall guarantee access to therapies of high quality during the entire course of a disease. A special focus was put on the transition from childhood to adult age. Healthcare professionals and experts have the possibility to visit special continuing education courses. The concept provides for a coordinator in the cantons and the hospitals who specifically have the mission to assist patients in undertaking administrative tasks and in finding solutions to offer relief to families. The Federal Department of Home Affairs together with the Cantons and other relevant actors has decided on implementing the measures that are foreseen in the National Concept. The Federal Council adopted the concept on 13 May 2015.