title: [Healthcare services for people in Lower Saxony (Germany) suffering from a rare disease: Findings from a survey among medical professionals].
abstract: BACKGROUND
  In the European Union, about 30 million people are affected by one of the 7,000 to 8,000 diseases being defined as rare. In Germany alone, an estimated 4 million people suffer from a rare disease. In many cases, therapeutic options and knowledge of specific rare diseases are strongly limited.
  
  
  OBJECTIVE
  The aim of this study was to identify the deficits and challenges confronting healthcare services for people suffering from a rare disease from the medical professional's perspective.
  
  
  METHODS
  As many as 530 medical professionals were invited to complete an online questionnaire, which was also available on the website of the General Medical Council of Lower Saxony. The questionnaire focused on questions in the following fields: structure of the medical care system; diagnosis and therapy; information sources and information exchange; and improvement of healthcare situation. Data were analyzed using IBM SPSS 22.
  
  
  RESULTS
  We received 65 completed questionnaires. The evaluation indicates deficits in the medical services provided for people with a rare disease and shortcomings in the communication between clinical disciplines. In addition, diagnostic and therapeutic options are limited, and quality-tested information is rare.
  
  
  CONCLUSIONS
  Many of the identified deficits have already been addressed in the German national plan of action for people affected by rare diseases. Furthermore, newly discovered deficits have been evaluated. The German government implemented healthcare structures to improve healthcare services for people with rare diseases. However, budget deficits for specialized structures have occurred inhibiting the expansion of healthcare services. Moreover, many patients need systemic treatment requiring the further development of interdisciplinary care.
authors.affiliation: Center for Health Economics Research Hannover (CHERH), Leibniz Universität Hannover, Hannover, Deutschland. Electronic address: frp@cherh.de.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Pauer
authors.affiliation: Center for Health Economics Research Hannover (CHERH), Leibniz Universität Hannover, Hannover, Deutschland.
authors.forename: Uljana
authors.initials: U
authors.lastname: Pflaum
authors.affiliation: Zentrum für Qualität und Management im Gesundheitswesen, Ärztekammer Niedersachsen, Hannover, Deutschland.
authors.forename: Verena
authors.initials: V
authors.lastname: Lührs
authors.affiliation: Zentrum für Qualität und Management im Gesundheitswesen, Ärztekammer Niedersachsen, Hannover, Deutschland.
authors.forename: Martin
authors.initials: M
authors.lastname: Frank
authors.affiliation: Center for Health Economics Research Hannover (CHERH), Leibniz Universität Hannover, Hannover, Deutschland.
authors.forename: J-Matthias
authors.initials: JM
authors.lastname: Graf von der Schulenburg
mesh_terms: D003695:Delivery of Health Care; D005062:European Union; D005858:Germany; D006801:Humans; D011787:Quality of Health Care; D035583:Rare Diseases; D011795:Surveys and Questionnaires
keywords: Gesundheitspolitik; Gesundheitssystem; Nationaler Aktionsplan; Rare diseases; Seltene Erkrankungen; Versorgungsforschung; health policy; healthcare System; healthcare research; national plan of action