Today, 6000 to 8000 rare diseases are known worldwide. A disease is classified as rare if it affects no more than 5 in 10,000 people. Because these conditions are so rare, it is often difficult to ensure that they are detected at an early stage and appropriately treated. The SAMS supports efforts to provide better care for the roughly 500,000 people with rare diseases in Switzerland.
The aim of the National Rare Disease Policy, adopted by the Federal Council in 2014, is to improve the situation for patients, particularly by providing networked care and establishing reference centres. A strategy of this kind also makes receiving professional support possible for patients, relatives, and professionals, and enables pooling the expertise.
On request of the Federal Office of Public Health, the SAMS prepared a report defining the procedure for the designation of reference centres. The SAMS proposed that the national policy should be implemented on two levels: the first comprises networks of service providers and reference centres for specific diseases If the available care is inadequate, a second level – so-called Rare Disease Platforms – offers centralised interdisciplinary resources in cases of diagnostic uncertainty, the coordination of treatments and health professionals, and the provision of information.
The report also recommended a national coordination body for rare diseases, which was established under the name of «kosek» in 2017 (website in French/German/Italian). The efforts of kosek are focused on the development of resources to facilitate the diagnosis of rare diseases and fill existing gaps. As a coordination body, it carries out projects in collaboration with health system actors, engaging with the people concerned through patient organisations. The SAMS is a founding member of kosek.