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

D Druschke,J Schmitt,F Krause,Translate-Namse-Consortium ,G F Hoffmann,J Scharfe,G Müller

doi:10.1186/s13023-021-02106-7

Abstract

BackgroundThe 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.MethodsIn 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.ResultsIn 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.ConclusionTo 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.

Highlights

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
In order to obtain a deeper insight and open feedback on the question complexes, additional telephone interviews were done with those primary care physicians who had already pediatricians play a specific role in the diagnosis of rare diseases [10], an oversampling of pediatricians of around one third were included in this weighted random sample
It was possible to conduct 15 in-depth interviews with physicians (7 female; 6 general practitioners, 6 pediatricians, 1 specialist in neurology, 1 specialist in orthopedics and 1 specialist in internal medicine) who have referred patients in a center for rare diseases. These 15 physicians were recruited by the TRANSLATENAMSE centers for rare diseases

Summary

Introduction

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. 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. The German National Action for Rare Diseases (NAMSE) and TRANSLATE‐NAMSE Since the 1990s, rare diseases have become a priority in European policy, which has implications at the national level of the Member States. The document includes policy suggestions and proposes actions in the fields of care/centers/networks, research, diagnostics and information management. Many objectives are still underdeveloped, for example, the provision of reliable information on specialized care and research facilities to patients and care providers [3]

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Conclusion