Cent Eur J Public Health 2020, 28(1):82-84 | DOI: 10.21101/cejph.a5652

State of knowledge about information sources and health care centres for rare diseases among affected people in Germany

Marcel Hanisch, Sabrina Wiemann, Lauren Bohner, Susanne Jung, Johannes Kleinheinz
Department of Oral, Maxillofacial and Facial Surgery, University Hospital Münster, Münster, Germany

Objectives: About four million people are affected by rare diseases in Germany and 30 million in the EU. In 2013, a national action plan for people with rare diseases was adopted in Germany which is also aimed at improving the information situation and better gathering of information for affected patients and their families. Since then, various sources of information and medical care structures have been made available. The aim of this study was to evaluate the state of knowledge about information sources and health care centres for rare diseases among those affected.

Methods: The study was carried out as anonymous survey among the member associations of the German Alliance for Chronic Rare Diseases (German acronym ACHSE e. V.). For this, a questionnaire was developed which in addition to questions on gender, age and disease comprised free text input referring to knowledge of health care centres or expert centres and source of information on rare diseases in Germany.

Results: A total of 484 individuals suffering from 96 different rare diseases participated in the survey. Of these, 74.47% are aware of medical or dental care centres for treatment of their types of rare disease; 69.31% use self-help groups as a source of information, only a few respondents know government-sponsored "se-atlas" and "Orphanet".

Conclusion: The majority of the respondents know medical care centres, most participants use self-help groups as information source, however, government-supported portals are largely unknown so that there is a need for further information in this regard.

Keywords: rare diseases, se-atlas, national action plan, Orphanet, NAMSE

Received: January 2, 2019; Revised: November 19, 2019; Accepted: November 19, 2019; Published: March 30, 2020  Show citation

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Hanisch M, Wiemann S, Bohner L, Jung S, Kleinheinz J. State of knowledge about information sources and health care centres for rare diseases among affected people in Germany. Cent Eur J Public Health. 2020;28(1):82-84. doi: 10.21101/cejph.a5652. PubMed PMID: 32228824.
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References

  1. Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medical products. Off J Eur Communities. 2000 Jan 22;43(L 18):1-5.
  2. Federal Ministry of Health. Prevention: rare diseases [Internet]. 2013 [cited 2015 Dec 15]. Available from: http://www.bmg.bund.de/praevention/gesundheitsgefahren/seltene-erkrankungen.html. (In German.)
  3. Council Recommendation of 8 June 2009 on an action in the field of rare diseases. Off J Eur Union. 2009 Jul 3;52(C 151):7-10.
  4. National action plan for people down with rare diseases: fields of action, recommendations and proposals of measures [Internet]. [cited 2018 May 16]. Available from: http://www.namse.de/images/stories/Dokumente/Aktionsplan/national%20plan%20of%20action.pdf. (In German.)
  5. Interim report on the implementation of the National Action Plan for People with Rare Diseases, as of October 2017 [Internet]. [cited 2018 Apr 4]. Available from: http://www.namse.de/images/stories/Dokumente/namse_monitoringbericht_oktober_2017.pdf. (In German.)
  6. se-atlas. Mapping of health care providers for people with rare diseases [Internet]. Federal Ministry of Health [cited 2017 May 10]. Available from: https://www.se-atlas.de.
  7. Storf H, Hartz T, Tegtbauer N, Pfeiffer W, Schmidtke J, Graessner H, et al. Vision and challenges of a cartographic representation of expert medical centres for rare diseases. Stud Health Technol Inform. 2014;205:677-81. Go to PubMed...
  8. Orphanet [Internet]. Paris: Orphanet [cited 2018 Apr 20]. Available from: http://www.orpha.net/consor/cgi-bin/index.php?lng=DE.
  9. ROMSE e.V. [Internet]. Witten [cited 2019 Apr 24]. Available from: http://romse.org. (In German.)
  10. Hanisch M, Hanisch L, Benz K, Kleinheinz J, Jackowski J. Development of a database to record orofacial manifestations in patients with rare diseases: a status report from the ROMSE (recording of orofacial manifestations in people with rare diseases) database. Br J Oral Maxillofac Surg. 2017 Jun;55(5):500-3. Go to original source... Go to PubMed...
  11. Eidt, D, Frank M, Reimann A, Wagner TOF, Mittendorf T, Graf von der Schulenburg JM. Measures for improving the heath situation of people with rare diseases in Germany: a study on behalf of the Federal Ministry of Health [Internet]. Federal Ministry of Health; 2009 [cited 2018 May 11]. Available from: https://www.bundesgesundheitsministerium.de/fileadmin/Dateien/5_Publikationen/Praevention/Berichte/110516_Forschungsbericht_Seltene_Krankheiten.pdf. (In German.)
  12. Héon-Klin V. European Reference networks for rare diseases: what is the conceptual framework? Orphanet J Rare Dis. 2017 Aug 7;12(1):137. doi: 10.1186/s13023-017-0676-3. Go to original source... Go to PubMed...