Rare diseases

A disease is considered to be rare if it affects no more than 5 in every 10,000 people. To date, between 6,000 and 8,000 rare diseases have been described worldwide, and new ones are being identified all the time. The majority of rare diseases have a genetic basis, but the cause of many has not yet been discovered.

Awareness of the problem of rare diseases is low in Switzerland, although more than half a million patients are estimated to be affected. This figure is far higher than the number of people with diabetes.

Rare diseases are very often severe, take a chronic course and can be disabling or life-threatening. The difficulty is compounded by the fact that it usually takes much longer to reach the correct diagnosis than with more common diseases. Knowledge about the course the disease takes is often lacking and there are few options for therapy. If a medicinal product is available for people affected by a rare disease, the situation regarding reimbursement of the cost by the health insurance providers is in many cases unclear.

National Concept for Rare Diseases

In its National Concept for Rare Diseases (2014–2019), the Federal Council adopted 19 measures to achieve seven objectives. However, work to improve care for patients with rare diseases is continuing.

A key task in this regard is the creation of reference centers for various groups of rare diseases throughout Switzerland. These centers are coordinated by the National Coordination Center for Rare Diseases (kosek) and linked together in national networks.

Other important priorities include the further development and operation of the Swiss Rare Diseases Registry and the work of the parent organization ProRaris.

Federal Act on Rare Diseases

Following the expiry of the National Concept for Rare Diseases, Parliament tasked the Federal Council in 2022 with creating a legal basis to ensure the sustainability of the measures set out in the strategy (Motion 22.3379 Strengthening and financing patient organizations in the field of rare diseases and Motion 21.3978 For the sustainable financing of public health projects under the National Strategy for Rare Diseases).

The new law is intended to ensure the financing of the register for rare diseases, the coordination of care, and the work of patient organizations.

Looking to the future

We are gradually learning how more and more rare diseases develop. This knowledge is the foundation on which new therapies are based. Rare diseases are often caused by a relatively simple mechanism. In some cases, the medicines used to treat a rare disease are also effective in other, more common diseases. Expectations are high for gene and cell therapies and personalised medicine since a large proportion of rare diseases have a genetic basis. Stem cell research could also contribute to the therapy of rare diseases. Major progress can be expected in diagnosis, in particular.

The research-based pharmaceutical industry in Switzerland is a front runner in research and development in the field of rare diseases. Swiss manufacturers of medicinal products rank highly among the companies that have been granted product authorisations by the regulatory bodies in the USA and Europe.