In Switzerland, a rare disease is defined as a condition that does not affect more than 5 per 10,000 persons and that is life threatening or chronically debilitating. There are between 6,000 and 8,000 rare diseases, with 75% affecting children and 80% having a genetic origin.
Individually, each rare disease affects only a small number of patients; however collectively, around 500,000 people in Switzerland may be affected by these conditions.
The limited number of patients per disease and the inherent challenges, such as difficult recruitment for clinical trials and small potential market, mean that special incentives to support innovation and the development of innovative medicines to treat rare diseases are required.
Access to treatment, diagnosis and reimbursement are aspects where patients with rare diseases face particular uncertainty and lack of clarity. In Switzerland, reimbursement decisions on orphan drugs often differ between insurance companies creating unequal access to treatments.