Switzerland regularly updates the Analysenliste (AL), a comprehensive list of diagnostic tests that are covered by compulsory health insurance.
As of April 2020, among others, the following new rare disease genetic tests will be added to the list:
Highly specialized biochemical metabolite determination for rare congenital metabolic disease (orphan disease)
Highly specialized biochemical protein / enzyme activity determination for rare congenital metabolic disease (orphan disease)
To be covered by the Federal Office of Public Health, the orphan/ rare diseases should follow certain eligibility criteria:
Gene-based prevalence of the disease 1: 2,000 or less
Monogenic disease with an entry in OMIM (Online Mendelian Inheritance in Man)
The genetic disease clearly affects health
The clinical-genetic suspected diagnosis is clearly described
The biochemical analysis is carried out for diagnosis or monitoring
The diagnostic sensitivity for the specific detection of the rare disease, especially with pronounced heterogeneity, is in an acceptable range
The 2 new tests contain additional variations based on the test methodology utilized. Some of the methods are: photometry, fluorimetry luminometry, gel electrophoresis, thin layer chromatography, liquid chromatography (including HPLC), gas chromatography, capillary electrophoresis.
The tariff points increase according to the methodological complexity, (e.g. technology use, preparation method) on a range of 60-520 CHF.
These new rare disease tests come as an addition to the existing ones that cover rare diseases by molecular genetic analysis (nucleic acid amplification, high-throughput gene sequencing).