Rare Diseases: The Long Path to Correct Diagnosis
Federal Government Aims to Secure Specialist Centers and Information – National Register Later
A single rare disease affects only a few people. However, in Switzerland, over half a million individuals are affected collectively. Globally, between 7,000 and 8,000 rare diseases are described. A condition is considered rare if it affects no more than five in 10,000 people and is life-threatening or chronically debilitating.
For affected individuals, the problem often starts long before treatment: symptoms do not fit familiar patterns, expert knowledge is spread across a few centers, and responsibilities shift between general practitioners, hospitals, insurance, and cantons. The Federal Council therefore aims to improve the legal framework in two stages.
Structures to Receive Reliable Funding First
A first draft proposal is expected to be submitted to Parliament by spring 2027. It establishes the basis for federal contributions to specialized care structures and information and advisory services. This includes inter-disease centers for people with unexplained symptoms, reference centers for diagnosed conditions, and national care networks.
Such networks pool experience, develop treatment guidelines, and provide further training for specialists. They are not a luxury alongside actual medicine: if a doctor knows where to refer an unusual case, it shortens the diagnostic process and prevents unnecessary duplicate examinations. Patient organizations also gather experiential knowledge and help families navigate the system.
Why the Federal Government Faced Limits So Far
Since 2014, a National Concept for Rare Diseases has existed. However, many measures remained financially fragile because a clear legal basis for permanent federal contributions was lacking. Individual actors had to self-finance their activities, and support was often only possible on an ad hoc basis.
The planned financial aid will be linked to cantonal contributions. The previous preliminary draft stipulated that the cantons should contribute at least an equal amount in total. This principle strengthens shared responsibility but can burden financially weaker cantons. It is crucial that one's place of residence does not determine how quickly someone gains access to expertise.
The Register Needs More Time
A national register aims to show how frequently individual diseases occur, how care and outcomes develop, and where research is possible. The Federal Department of Home Affairs (FDHA) is not expected to finalize the corresponding legislative proposal until 2030. The federal government intends to coordinate it with DigiSanté, the digital transformation of healthcare.
This staggered approach can avoid duplication. However, it carries a risk: a register introduced years later delays better data. Therefore, data protection and benefits must be planned concurrently. A reporting obligation for new diagnoses, with a right to object for affected individuals, was foreseen. The rarer a disease, the easier it can be to infer information about individuals even from pseudonymized data sets.
What This Means for Affected Individuals
This announcement does not yet constitute a new benefit from hospital funds. First, Parliament must decide, followed by implementation rules and budgets. Therefore, affected individuals should not expect an immediate change in their cost coverage. Tangible progress will be measured by whether contact points are reliably accessible, referrals function effectively, and insurance decisions become more transparent.
For the healthcare system, more targeted care can be more efficient despite additional funding. Early diagnoses prevent misdiagnoses, coordinated networks reduce redundancies, and shared data facilitates research. Switzerland should measure success not by the number of committees created, but by shorter diagnostic paths, equal access, and demonstrably improved quality of life.
Cross-border cooperation also remains important. For very rare diagnoses, there are often only a few cases in Switzerland; international registers and European reference networks can therefore be indispensable. National structures should facilitate access to this knowledge, not create an artificial island. For affected individuals, the best available expertise matters – regardless of the country it is located in.
