• In Switzerland, a rare disease is defined as a life-threatening or chronically debilitating condition that affects less than 5 in 10,000 people
• There are between 6,000 and 8,000 rare diseases identified worldwide
• 75% of the rare diseases affect children and 80% have a genetic origin
• While the number of people affected by a single disease is low, it is estimated that 7% of the Swiss population, i.e. more than half a million persons, lives with a rare disease

Due to the specific characteristics of rare diseases, the rare disease community is facing specific challenges, which include:

• Limited awareness among public authorities, decision-makers and the general public about the rare disease patients’ needs
• Scarce medical expertise, which can lead to delayed diagnosis and treatment
• Hurdles for the development of therapies, including patient recruitment for clinical trials and additional costs compared to other drugs
• Absence of available treatment for most rare diseases

The limited number of patients per disease and the inherent challenges for research and drug development mean that special incentives are required to support the development of orphan drugs. Accordingly, various incentives such as a simplified authorization procedure and provisions for data exclusivity have been introduced over recent years in Switzerland. The Swiss policy on rare diseases has been based on the National Rare Disease Policy, adopted in 2014. The strategy defined 8 areas for actions, incl. access to diagnosis and therapy, support for patients and networking. The strategy implementation was completed in 2021.

In Switzerland, orphan drugs authorized by Swissmedic are reimbursed by compulsory health insurance if they are included in the Specialties List (SL) established by the Swiss Federal Office of Public Health, or FOPH (Bundesamt für Gesundheit, or BAG / Office Fédéral de la Santé Publique, or OFSP). Orphan drugs that are not included in the SL can be reimbursed via an alternative pathway, art. 71a-d of the Swiss Ordinance on Compulsory Healthcare (Verordnung über die Krankenversicherung, or KVV / Ordonnance sur l’assurance-maladie, or OAMal), if they fulfill certain criteria. In the latter case, the reimbursement decision is taken by the health insurer, based on a medical examiner assessment. The Swiss society of insurance and medical examiners (Schweizerische Gesellschaft der Vertrauens- und Versicherungsärzte, SGV or Société Suisse des médecins-conseil et médecins d’assurance, SSMC) developed a specific tool, the OLUtool, to harmonize the assessment of medicinal products in the framework of requests for reimbursement in individual cases. The RDAF is advocating for a dedicated rare disease tool to ensure that the specific characteristics of orphan drugs are reflected. The RDAF Working Group has conducted an in-depth analysis of the existing tool in the non-oncology field (OLUtool NonOnko) and is closely monitoring its evolution.

In December 2020, the BAG published an evaluation report on this regime. The report underlines the important role played by this regime in reinforcing patient access to treatment but also highlights several shortcomings in the implementation of the KVV provisions, including the divergence in benefit assessments of treatment options by insurers (the RDAF submitted a statement on the report and the policy options to revise the regime). Based on the evaluation findings, the Swiss Federal Council decided to revise the Ordinance on Compulsory Healthcare. A public consultation on the revision was held from June to September 2022; the RDAF submitted its position for the revision. The adoption of the revised texts is expected in the first half of 2023. In implementation of the National Rare Disease Policy, the National Coordination Rare Diseases (kosek) set up and conducted the recognition process for rare diseases centers. The centers aim to facilitate the access to diagnosis, provide information to patients as well as training and carry out research projects. The project ended in 2021, with the recognition of 9 centers, covering the whole Swiss territory. In 2022, following a successful pilot project, kosek launched the recognition process for rare diseases reference centers, which aim to organize expertise for specific rare diseases or groups of rare diseases. These centers will provide specific care for patients with an established rare disease diagnosis.

In 2022, the Swiss Parliament adopted two motions to support activities in the field of rare diseases:

• Motion 21.3978 mandating the Federal to create a legal basis to ensure the sustainable funding of measures to implement the national concept for rare diseases.
• Motion 22.3379 tasking the Federal Council to create a legal basis to fund information, advice and coordination activities carried out by patient organizations.

The motions will now be implemented by the Federal Council.