In her welcoming address at the Tagesspiegel Patient Dialogue Forum: "Ways out of the diagnosis odyssey for rare diseases" on June 29, 2022, Eva Luise Köhler emphasized the great importance of a speedy diagnosis for patients with rare diseases: "Even if there are no good therapies yet, naming the condition can bring some peace of mind and provides orientation for the way ahead." The diagnosis is also crucial for the treating physicians, because as long as a disease is not recognized, no targeted therapy can be found, she emphasized.
Unfortunately, however, too many of those affected still go through the proverbial odyssey referred to in the title of the event: it takes an average of four and a half years to find a diagnosis for children, and for eight long years, adults consult an average of eight doctors are consulted, and often receive at least one misdiagnosis, explained Eva Luise Köhler. "What that means in terms of personal suffering in the families and, moreover, in terms of time, effort and costs, can only be imagined."
Rare diseases: Digitization is essential for the necessary precision medicine
For the at least four, more likely five million people affected by rare diseases in Germany alone, the enormous gain in knowledge in medicine and, crucially, the development of digitization offer hope. "Digitization will usher in a new era of medicine for all of us, but no one will benefit more from it than people with rare diseases," Köhler emphasized. For the precision medicine needed in this field, he said, it is essential and downright vital that existing research and treatment data be merged, especially in university medicine. Projects such as CORD-MI (Collaboration on Rare Diseases), which are driving this forward throughout Germany as part of the medical informatics initiative funded by the German Federal Ministry of Education and Research (BMBF), are therefore of enormous importance.
CORD-MI: Weitere Finanzierung im Rahmen der Initiative für medizinische Informatik ist entscheidend
Eva Luise Köhler was shocked by the current decision not to include CORD-MI in the second funding period of the BMBF's medical informatics initiative. The fact that the concerns of patients are not given priority and obviously have to take a back seat in a competition with widespread diseases would correspond exactly to what patients with rare diseases often have to experience. She made it clear that if important measures for the digitization and networking of databases are halted halfway, needs analyses such as the position statement of the NAMSE steering group on the digitization needs for the field of rare diseases, which was published just that day, are not worth the paper they are written on. Eva Luise Köhler resolutely demanded that ways of funding in the medical informatics initiative must be found that also enable further funding of applications in the field of rare diseases, because: "Rare must not be equated with insignificant!"
TRANSLATE-NAMSE: Evidence of the effectiveness of interdisciplinary and cross-site collaboration
Eva Luise Köhler referred to the Innovation Fund project TRANSLATE-NAMSE, which recently demonstrated the effectiveness of interdisciplinary and cross-site collaboration in an exemplary manner. Fourteen consortium partners, led by Charité, have achieved impressive improvements in the area of diagnosis by implementing selected measures from the National Action Plan for People with Rare Diseases. Thanks to the introduction of structured treatment paths with interdisciplinary, cross-site case conferences, the use of pilots, and innovative genetic diagnostics, a reliable diagnosis could be made for a good third of the patients cared for in the project - on average within half a year.
"About 1700 children, young people and adults, their friends and families now know where they stand. What a great success!", Eva Luise Köhler was impressed and appealed in conclusion: "Let's take this success as a model to not leave people with rare diseases behind!"
See the whole event here.
