"The correct diagnosis is the first step towards better care for people with rare diseases. However, it takes an average of five years for those affected to receive an accurate diagnosis," says Dr. Martin Walger, Managing Director of the VDGH. The background: if only 100 people in Germany have the disease in question, medical knowledge and lay research with "Dr. Google" quickly reach their limits. Molecular and genetic diagnostics are then the decisive tools.
However, diagnostics for people with rare diseases is under particular pressure. The overregulation of the EU Regulation on in vitro diagnostics (IVDR) has made the market approval of orphan tests considerably more difficult. These special tests are only needed in small quantities and can hardly be produced economically under the new regulatory requirements. "The concern that diagnostics for rare diseases will disappear from the market is increasingly becoming a reality," warns Walger. The VDGH is therefore calling for practical adjustments to the IVDR in order to ensure the security of supply for people with rare diseases.
The VDGH sees new opportunities for research into rare diseases in better access to anonymized health data. The planned regulations on the use of secondary data could considerably facilitate the exchange and evaluation of data. This would be a major step forward, especially for rare diseases, for which there is often only limited clinical information. "Through the intelligent use of anonymized health data, new correlations can be identified, diagnosis times shortened and personalized therapies made available more quickly," explains Walger. The VDGH is calling for the opportunities created by the Health Data Utilization Act to be implemented quickly.
As a partner of the National Action Alliance for People with Rare Diseases (NAMSE), the VDGH is committed to facilitating access to diagnostics and advancing digital care structures in order to sustainably improve the situation of those affected.
