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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
Blöß, Susanne
Klemann, Christian
Rother, Ann-Katrin
Mehmecke, Sandra
Schumacher, Ulrike
Mücke, Urs
Mücke, Martin
Stieber, Christiane
Klawonn, Frank
Kortum, Xiaowei
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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.
Citation
Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey. 2017, 12 (2):e0172532 PLoS ONE
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PubMed Central ID
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Article
Language
en
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Series/Report no.
ISSN
1932-6203