Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.

Blöß, Susanne; Klemann, Christian; Rother, Ann-Katrin; Mehmecke, Sandra; Schumacher, Ulrike; Mücke, Urs; Mücke, Martin; Stieber, Christiane; Klawonn, Frank; Kortum, Xiaowei; Lechner, Werner; Grigull, Lorenz

dc.contributor.author	Blöß, Susanne
dc.contributor.author	Klemann, Christian
dc.contributor.author	Rother, Ann-Katrin
dc.contributor.author	Mehmecke, Sandra
dc.contributor.author	Schumacher, Ulrike
dc.contributor.author	Mücke, Urs
dc.contributor.author	Mücke, Martin
dc.contributor.author	Stieber, Christiane
dc.contributor.author	Klawonn, Frank
dc.contributor.author	Kortum, Xiaowei
dc.contributor.author	Lechner, Werner
dc.contributor.author	Grigull, Lorenz
dc.date.accessioned	2017-03-24T10:22:46Z
dc.date.available	2017-03-24T10:22:46Z
dc.date.issued	2017
dc.identifier.citation	Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey. 2017, 12 (2):e0172532 PLoS ONE	en
dc.identifier.issn	1932-6203
dc.identifier.pmid	28234950
dc.identifier.doi	10.1371/journal.pone.0172532
dc.identifier.uri	http://hdl.handle.net/10033/620869
dc.description.abstract	Worldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to diagnosis is about 6 years and patients receive several incorrect diagnoses during this time. A multiplicity of factors renders diagnosing a rare disease extremely difficult. Detection of shared phenomena among individuals with different rare diseases could assist the diagnostic process. In order to explore the demand for diagnostic support and to obtain the commonalities among patients, a nationwide Delphi survey of centers for rare diseases and patient groups was conducted.
dc.language.iso	en	en
dc.rights.uri	http://creativecommons.org/licenses/by-nc-sa/4.0/	*
dc.title	Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.	en
dc.type	Article	en
dc.contributor.department	Helmholtz Centre for infection research, Inhoffenstr. 7, 38124 Braunschweig, Germany.	en
dc.identifier.journal	PloS one	en
refterms.dateFOA	2018-06-12T20:03:23Z
html.description.abstract	Worldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to diagnosis is about 6 years and patients receive several incorrect diagnoses during this time. A multiplicity of factors renders diagnosing a rare disease extremely difficult. Detection of shared phenomena among individuals with different rare diseases could assist the diagnostic process. In order to explore the demand for diagnostic support and to obtain the commonalities among patients, a nationwide Delphi survey of centers for rare diseases and patient groups was conducted.