Measures to improve the health situation of patients with rare diseases in Germany. A comparison with the National Action Plan

BACKGROUND: Approximately 4 million patients with a rare disease live in Germany. The medical care of these patients is problematic because of the rarity and heterogeneity of different clinical pictures. The Federal Ministry of Health has therefore published a research report on "Measures to improve the health situation of people with rare diseases in Germany" in 2009. OBJECTIVE: The aim of this paper is to present the main recommendations of this research report and relate it to current developments in the field of medical care for people with rare diseases. METHODOLOGY: The care situation of patients with rare diseases was determined using questionnaires, expert interviews and focus group discussions with representatives of patients, service providers and stakeholders from the health institutions. RESULTS: The main range of actions that have been identified in the research report were centre and network formation, specialized forms of medical care, diagnosis and treatment, information and experience exchange, performance fees and reimbursement of the costs, guidelines and patient pathways, the research, the implementation of a National Action Alliance and the development of a National Action Plan. DISCUSSION: In March 2010 a National Action League for People with Rare Diseases (NAMSE) was founded. The NAMSE created a national plan of action for people with rare diseases for improving medical care in the field of rare diseases which was approved by the Federal Government in August 2013. Thus, two important areas of the research report have already been implemented. In a comparison of the areas of activity of the research report with those of the National Action Plan it becomes clear that priorities will be in the context of health services research in rare diseases, for example the introduction of centres of reference for rare diseases, measures to accelerate the diagnostic process and the promotion of research and information management in the future.