Particularly in the case of rare diseases, there are often only individual, highly specialized diagnostic tests. If such orphan diagnostics disappear from the market, there will be gaps in supply with no alternative. The VDGH therefore welcomes the fact that the European Commission has initiated a reform process for the In Vitro Diagnostics Regulation (IVDR). "Now is the right time to make the regulation practicable and ensure the long-term availability of diagnostics for rare diseases," explains VDGH Managing Director Dr. Martin Walger. Specific and sustainable regulations for orphan IVDs must be consistently anchored in the further legislative process.
At the same time, digital developments are opening up new opportunities. The further development of the German government's digitalization strategy provides important impetus for the use of structured health data, its linkage with genome data and the use of artificial intelligence in healthcare. Particularly in the case of rare diseases, the evaluation of structured laboratory findings can help to shorten diagnosis times and use personalized therapies in a more targeted manner.
"However, digital strategies only unfold their benefits if the diagnostic tests are also available," Walger continues. The speed of implementation is now crucial: interoperable standards for laboratory data, a binding connection to the European Health Data Space and clear deadlines for the implementation of central infrastructure projects are a prerequisite for innovations to actually reach patients.
As a partner of the National Action Alliance for People with Rare Diseases (NAMSE), the VDGH is committed to ensuring access to modern diagnostics and the consistent further development of digital care structures. The aim is to provide reliable, innovation-friendly and patient-centered healthcare - also and especially for people with rare diseases.
