Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE

Abstract

Background The TRANSLATE-NAMSE project with the strengthening of the centers for rare diseases with their affiliation to the European Reference Networks was a major step towards the implementation of the German National Plan of Action for People with Rare Diseases establishing better care structures. As primary care physicians, general practitioners and pediatricians play a central role in the diagnosis of patients with rare disease, as it is usually them referring to specialists and rare disease centers. Therefore, the interface management between primary care physicians and the centers for rare diseases is of particular importance. Methods In a mixed-method-approach an anonymous postal survey of 1,500 randomly selected primary care physicians in Germany was conducted with focus on (1) knowledge about a center for rare diseases and how it works, (2) in case of cooperation, satisfaction with the services provided by centers, and (3) expectations and needs they have with regard to the centers. In addition, in-depth telephone interviews were conducted with physicians who had already referred patients to a center. Results In total, 248 physicians responded to the survey, and 15 primary care physicians were interviewed. We observed a wide lack of knowledge about the existence of (45.6% confirmed to know at least one center) about how to access rare disease centers (50.4% of those who know a center confirmed knowledge) and what the center specializes in. In case of cooperation the evaluation was mostly positive. Conclusion To improve medical care, the interplay between primary care physicians and rare disease centers needs to be strengthened. (1) To improve the communication, the objectives and functioning of the rare disease centers should become more visible. (2) Other projects dealing with the analysis and improvement of interface management between centers and primary care physicians, as described in the National Plan of Action for People with Rare Diseases, need to be implemented immediately. (3) If the project is evaluated positively, the structures of TRANSLATE-NAMSE should be introduced nationwide into the German health care system to ensure comprehensive, quality-assured care for people with rare diseases with special consideration of the key role of primary care physicians—also taking into account the financial expenditures of this new care model.

A qualitative needs assessment of external communication by rare disease associations

“…Based on our data this was not a surprise because most rare disease associations do not use a strategic communication plan and in fact, most associations are not focused on fundraising. In multiple analyses, authors concluded that there is discordance between the medical and patient communities; in other words, there is not a common language with which to communicate (30)(31)(32)(33). This too is not a surprise because strategic focus is generally used by rare disease associations often because funds are not available to support professional communication plans.…”

Healthcare for people with rare diseases: recommendations for successful intersectoral collaboration

“…B. Zentrenstruktur) kennen. Eine aktuelle Studie zeigt, dass dies nicht vorausgesetzt werden kann [ 39 ]. Vor diesem Hintergrund sind Konzepte zur Bekanntmachung der Strukturen und zur Sensibilisierung der Primärversorgenden für Seltene Erkrankungen eine wichtige Ergänzung.…”

Praxiseinsatz Elektronischer Patientenakten: Erkenntnisse aus 2 Versorgungsprojekten in Zentren für Seltene Erkrankungen

“…Dieses Versorgungsprojekt "TRANS-LATE-NAMSE" wurde von April 2017 bis September 2020 durch den Innovationsfond des G-BA für neue Versorgungsformen in der gesetzlichen Krankenversicherung gefördert [9][10][11] Definierte SE wurden zunächst entsprechend der aktuellen Leitlinien der AWMF diagnostiziert, dazu gehörten angeborene Stoffwechselerkrankungen und Hypothyreose, adrenogenitales Syndrom (oder klinisch diagnostizierte Störungen der Geschlechtsentwicklung), primäre Immundefekte, Autoinflammationserkrankungen oder seltene Hämoglobinopathien. Anschließend wurden diese Patienten mittels der im Projekt entwickelten multiprofessionellen Versorgungspfade entsprechend den aktuellen Leitlinien betreut.…”

“…Dieses Versorgungsprojekt „TRANSLATE-NAMSE“ wurde von April 2017 bis September 2020 durch den Innovationsfond des G‑BA für neue Versorgungsformen in der gesetzlichen Krankenversicherung gefördert [ 9 – 11 ]. Daran nahmen neben 9 universitären Zentren für SE 2 Krankenkassen (AOK Nordost und Barmer GEK) und die Allianz chronischer seltener Erkrankungen (ACHSE e. V.) teil.…”