Like every Innovation Fund project, TRANSLATE-NAMSE was evaluated by external institutes: In this case, the Berlin School of Public Health (BSPH) and the Center for Evidence-Based Health Care (ZEGV) at the Technical University of Dresden, for whose tasks I was responsible together with my colleague. We were particularly interested in how patients and their relatives assessed the services offered in TRANSLATE-NAMSE. In addition, we asked family doctors and pediatricians about their cooperation with centers for rare diseases. And thirdly, we obtained data from various health insurance funds in which we examined the care paths patients had passed before they turned to a TRANSLATE-NAMSE center.
The TRANSLATE-NAMSE consortium was quite large with 19 different partners. Nevertheless, we worked very closely together and the coordinators and pilots in the centers supported us very much in the evaluation.
A structural problem could be solved. Before TRANSLATE-NAMSE, the individual university hospitals tried to respond to requests from physicians and patients looking for a diagnosis with more or less of their own resources. In TRANSLATE-NAMSE, a structured care pathway was established on how to deal with such requests. It also defined what resources were required to do so. Even if not every patient or their relatives considered this pathway to be optimal, the majority of them were satisfied with it and a diagnosis could be made for about one third of the patients. The spectrum of diagnoses was very broad and about a quarter of these diagnoses were made only once.
In the centers for rare diseases, there are now central contact persons to whom physicians, patients or their relatives can turn when they are looking for a diagnosis. Structures have been created in the centers to handle these inquiries in a structured process so that as many patients as possible receive a confirmed diagnosis in the end. The established structures must now receive regular funding. In addition, referring physicians must be better informed about the possibilities, procedures and access routes to the centers, so that they can discuss the timely involvement of the centers with their patients in advance.
For several years now, I have been working in the Medical Informatics Initiative to make the data routinely collected during outpatient or inpatient presentations of patients in university hospitals usable for research. Since many people with rare diseases are cared for entirely, or at least to a large extent, by university hospitals due to the specific professional requirements for treatment, a huge treasure trove of data on the course and treatment of rare diseases lies here. In the CORD-MI project, 21 university hospitals are developing strategies for analyzing this data while maintaining data protection.
Starting next year, I will also work with researchers from Freiburg to develop tools to improve disease management and the quality of life of patients with multi-organ autoimmune diseases. The GAIN network, in which researchers have joined forces to conduct better research into these diseases, has already been in existence for several years. Now the focus is to be shifted more to the patients' perspective.
People with a rare disease often have an odyssey of doctor visits and a period of great uncertainty before they and their loved ones receive the correct diagnosis. And even when a diagnosis has been made, good care is often not assured. To change this, the "National Action Alliance for People with Rare Diseases - NAMSEwas founded and a National Action Plan for People with Rare Diseases was developed. The implementation of selected central measures from this action plan was the content of TRANSLATE-NAMSE a three-year joint project of nine centers for rare diseases in Germany and four human genetics institutes in cooperation with two consortium health insurance companies and the Alliance for Chronic Rare Diseases (ACHSE) e.V .
In the meantime, TRANSLATE-NAMSE has been successfully completed. The evaluation has shown significant improvements for patients through the new forms of care applied. The Innovation Committee of the Federal Joint Committee (G-BA), the highest body of self-administration in the German health care system, has approved the transfer of the project contents into standard care This decision represents a milestone for the care of people with rare diseases. Against this background, those responsible for the TRANSLATE-NAMSE project describe their experiences and expectations here.