On this occasion, the Verband der Diagnostica-Industrie e.V. (VDGH) emphasizes the crucial importance of laboratory diagnostics. On the one hand, it helps doctors to make the right diagnosis in a timely manner. On the other hand, molecular and genetic diagnostics have become indispensable in the research, development and application of new targeted therapies that can fundamentally improve the lives of those affected. Today, many rare diseases are not yet curable, but the major advances in cell and gene-based therapies in particular are opening up new possibilities.
Dr. Martin Walger, Managing Director of the VDGH, emphasizes: "People affected by a rare disease still go undetected or live with unclear or incorrect diagnoses, often for years. Modern laboratory diagnostics are the key to opening the door to medical help and support for those affected and their environment." Screening for rare diseases is becoming even more important in view of the growing number of treatment options. "Newborn screening is a central and successful component of this strategy, but should be supplemented by further early childhood examinations," says the VDGH.
The challenge with rare diseases lies not only in their diversity and complexity, but also in the small number of people affected in each case. These factors traditionally make diagnosis and the development of targeted therapies more difficult. The VDGH sees digitalization and the shared use of health data as a significant step forward in overcoming these obstacles.
To support this development, the VDGH is calling for the swift implementation of the Health Data Utilization Act (GDNG) and the European Health Data Space (EHDS). "Only through close cooperation and the exchange of expertise and data between all parties involved can we substantially improve care for people with rare diseases," continues Walger.
As a partner of the National Action Alliance for People with Rare Diseases (NAMSE), the VDGH is also committed to facilitating access to diagnostics and accelerating the digitalization of care structures. The aim is to significantly improve the quality of life of those affected and give them a voice in the healthcare landscape.
