“Five years to a diagnosis is five years too many”

Rare diseases often leave those affected and their families facing great uncertainty for years. Although diagnostic possibilities have significantly improved in recent years, the path to the correct diagnosis remains too long. This is precisely where this year’s Takeda Expert Talk focused: How can digitalization make diagnoses faster and care more patient-centered? What opportunities do registries, the electronic patient record (ePA), and research data offer science and medicine? And what political decisions need to be made now so that digital innovations can be fully harnessed for the benefit of rare diseases?

Progress needs structure

During the scientific exchange between Prof. Dr. Annette Grüters-Kieslich and Prof. Dr. Martin Mücke, Director of the Center for Rare Diseases at RWTH Aachen, it became clear: many forward-looking tools already exist. Genomic medicine and AI-assisted analyses are opening up new ways to identify and classify complex conditions more quickly. But technical progress alone is not enough. What matters is integrating these advances structurally into the healthcare system.

“Without structured and valid data, even the best AI cannot reach its full potential,” emphasized Annette Grüters-Kieslich. She made it clear: the electronic patient record can centralize information, but it does not replace a quality-assured registry. Registry data is standardized, scientifically evaluable, and forms the basis for both research and targeted healthcare management. Orpha coding also remains essential, as many rare diseases cannot be precisely recorded using the international ICD 10 classification. There is still a clear need for action here.

Professor Mücke underlined that digitalization must also improve the interfaces between outpatient care and specialized centers. Especially in primary care, there is a key responsibility to guide patients early into appropriate structures.

Moving away from project logic

The subsequent political discussion with Dr. Lina Seitzl MP, Nora Seitz MP, and Dr. Christine Mundlos from ACHSE highlighted another structural challenge: Many successful approaches are started as fixed-term funding projects and end when the financing runs out. Dr. Christine Mundlos put it succinctly: “Setting up registries as projects is not sustainable. Long-term financing must be considered from the outset.”

There was consensus that rare diseases are not a fringe issue. They affect a significant part of the population and are a benchmark for the overall performance of the healthcare system. Digitalization must not be an end in itself, but must be embedded in cross-sector, learning care structures. Accordingly, political decisions must be made with a long-term focus, not simply based on individual projects or legislative periods.

This also applies to the office of the National Action Alliance for People with Rare Diseases. Its coordinating role in networking and developing structures should not depend on short-term financing cycles, but urgently requires institutionalized security.

Accelerate diagnosis, strengthen structures

The evening’s conclusion: Digitalization can fundamentally improve care—if consistently designed around patients. Artificial intelligence, structured registries, and specialized centers offer real opportunities for improving the diagnosis and care of rare diseases. The next step is to implement these tools consistently, provide sustainable funding, and secure political commitment. After all, a rapid diagnosis is not just a vision, but a public health responsibility.

We thank all participants for the constructive exchange, as well as Sabine Rieser and Yuuki, Takeda’s virtual AI ambassador, for their dedicated moderation.