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. 2017 Feb 24;12(2):e0172532.
doi: 10.1371/journal.pone.0172532. eCollection 2017.

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

Susanne Blöß  1 , Christian Klemann  2   3 , Ann-Katrin Rother  1 , Sandra Mehmecke  1   4 , Ulrike Schumacher  5 , Urs Mücke  1 , Martin Mücke  6 , Christiane Stieber  6 , Frank Klawonn  7   8 , Xiaowei Kortum  7 , Werner Lechner  9 , Lorenz Grigull  1
Affiliations

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

Susanne Blöß et al. PLoS One. .

Abstract

Background: 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.

Methods: A two-step Delphi survey was conducted using web-based technologies in all centers for rare diseases in Germany. Moreover, the leading patient support group, the German foundation for rare diseases (ACHSE), was contacted to involve patients as experts in their disease. In the survey the experts were invited to name rare diseases with special need for diagnostic improvement. Secondly, communal experiences of affected individuals were collected.

Results: 166 of 474 contacted experts (35%) participated in the first round of the Delphi process and 95 of 166 (57%) participated in the second round. Metabolic (n = 74) and autoimmune diseases (n = 39) were ranked the highest for need for diagnostic support. For three diseases (i.e. scleroderma, Pompe's disease, and pulmonary arterial hypertension), a crucial need for diagnostic support was explicitly stated. A typical experience of individuals with a rare disease was stigmatization of having psychological or psychosomatic problems. In addition, most experts endured an 'odyssey' of seeing many different medical specialists before a correct diagnosis (n = 38) was confirmed.

Conclusion: There is need for improving the diagnostic process in individuals with rare diseases. Shared experiences in individuals with a rare disease were observed, which could possibly be utilized for diagnostic support in the future.

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Conflict of interest statement

Competing Interests: The commercial affiliation of FK, LG, and WL to Improved Medical Diagnostics, IMD GmbH, Germany, did not play a role in our study and this did not alter our adherence to all PLOS ONE policies on sharing data and materials.

Figures

Fig 1
Fig 1. The Delphi process is illustrated.
In the Delphi survey, a total of 474 experts were contacted initially. During the second round, 95 participated. All participants were invited to answer two questions.
See this image and copyright information in PMC

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