CORD-MI 2022: Symposium on digitization in the field of rare diseases
„Digitale Zusammenarbeit für Diagnose und Therapie im Bereich Seltene Erkrankungen“ - unter diesem Titel fand am 1. und 2. Dezember 2022 das Symposium der Collaboration on Rare Diseases der Medizininformatik-Initiative which took place on December 1 and 2, 2022 in the Kaiserin-Friedrich-Haus in Berlin. Among the speakers was Prof. Dr. Annette Grüters-Kieslich, Chairwoman of the Eva Luise and Horst Köhler Foundation for People with Rare Diseases.
According to Dr. Josef Schepers, overall coordinator of CORD-MI, the expiring development and networking phase of the medical informatics initiative of the German Federal Ministry of Education and Research "half filled the glass for progress in IT support for diagnosis and therapy selection". He made it clear that subsequent initiatives, programs and projects face a great responsibility to take up what has been achieved and develop it further. After all, "Precise knowledge can save lives in rare cases, and rare is frequent."
The contributions to the event were as numerous as they were multifaceted - and very clear in their common message: precision medicine requires precise, standardized and appropriately networked documentation, especially in the field of rare diseases. In this context, not only Orpha coding, which will become mandatory in the inpatient sector in April 2023 , plays an essential role. Phenotyping with the Human Phenotype Ontology (HPO) and the integration of disease-specific additional documentation such as research registries are also important and valuable tools.
One such registry is the National Registry for Rare Diseases (NARSE) initiated by the Eva Luise and Horst Köhler Foundation, which will be launched shortly. For the first time, it will collect reliable figures on patients affected by ultra-rare diseases in Germany. Professor Holger Storf from the Frankfurt Institute for Medical Informatics (IMI), who accompanied the technical implementation with the OSSE registry platform, explained the low-threshold approach of the registry with a small data set and input via WebClient. He pointed out that with the launch of NARSE, research registries with longitudinal data will by no means become obsolete. They also perform important tasks such as collecting data generated in the outpatient sector.
There was unanimity in the assessment that Germany still has a lot of homework to do in the field of medical informatics. Particularly with regard to digitization in the outpatient sector, more decisive action is needed to better meet the needs of people with rare diseases. Professor Grüters-Kieslich stated with regard to the lack of data: "It is no use if we participate in initiatives in Europe but are only a weak partner. We cannot rely on Europe to deliver what we have so far failed to do at the national level. need. We need to catch up and cooperate as a strong partner in these European networks." Structures and instruments created as part of the medical informatics initiative show how this can be done: For example, the Research Data Portal Health (FDPG) and the medical informatics consortium MIRACUM make it easier to find suitable patients for clinical trials.
The huge importance of networks in the field of rare diseases and the involvement of patients in research and care was emphasized again and again both in the presentations and in discussions on the sidelines of the event. "Networking with each other creates new questions, but also new insights. We depend on these because they are often not documented in clinical routine," explained Annette Grüters-Kieslich.
Dr. Christine Mundlos, Deputy Executive Director of the Alliance of Chronic Rare Diseases, made it clear that diagnosis is indispensable for successful networking. A diagnosis is an important milestone for patients, as it provides orientation and enables the formation of networks. In addition, claims against service providers can sometimes only be asserted with a diagnosis, explained Christine Mundlos, putting it in a nutshell: "Diagnosis = putting an end to searching and giving life a new start."
A diagnosis is followed by therapy, and a separate session was dedicated to this important topic. The fact that there are only about 200 approved orphan drugs for the approximately 8,000 known rare diseases shows the problems in care. Prof. Annette Grüters-Kieslich emphasized the need for increased efforts in this area. Using the example of monogenic obesity, the experienced pediatrician explained that the development of targeted pharmacotherapy is more possible than ever before due to advances in research, and it works: "There are many other options besides gene therapy."
However, since these therapies are cost-intensive, new approaches should be considered - also in view of the public debate on diseases such as spinal muscular atrophy. One such approach could be a fund (co-)financed by public money, which would allow public funding bodies to have a say in pricing, but also make the criteria for prioritizing certain diseases transparent.
"This is also a political task," noted Prof. Grüters-Kieslich, concluding by appealing to the representatives of the Federal Ministry of Health and the Federal Ministry of Education and Research present at the symposium: "Christmas is coming soon: My wish is for a Joint Action in the field of rare diseases. We need to bring your two houses much closer together, because research and care are inseparable in the field of rare diseases!"