Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.
Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey.
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DOI：
10.1371/journal.pone.0172532
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发表时间：
2017
期刊：
影响因子：
3.7
通讯作者：
Grigull L
中科院分区：
文献类型：
--
作者：
Blöß S;Klemann C;Rother AK;Mehmecke S;Schumacher U;Mücke U;Mücke M;Stieber C;Klawonn F;Kortum X;Lechner W;Grigull L
目前，全球已发现约7,000种罕见疾病。因此，德国有400万人患有罕见疾病。平均诊断时间约为6年，在此期间，患者接受了几次错误的诊断。多种因素使得诊断罕见疾病极其困难。检测患有不同罕见疾病的个体之间的共同现象可以帮助诊断过程。为了探索诊断支持的需求，并获得患者之间的共性，在全国范围内进行了罕见病中心和患者群体的德尔菲调查。在德国的所有罕见病中心使用基于网络的技术进行了两步德尔菲调查。此外，还联系了主要的患者支持团体德国罕见疾病基金会（ACHSE），让患者作为其疾病的专家参与进来。在调查中，专家们被邀请命名特殊需要改进诊断的罕见疾病。第二，收集受影响个人的共同经验。474名联系的专家中有166名（35%）参加了德尔菲程序的第一轮，166名专家中有95名（57%）参加了第二轮。代谢性疾病（n = 74）和自身免疫性疾病（n = 39）在诊断支持需求中排名最高。对于三种疾病（即硬皮病、庞贝氏病和肺动脉高压），明确指出了诊断支持的关键需求。患有罕见疾病的个人的典型经历是因心理或身心问题而受到指责。此外，大多数专家经历了一个“奥德赛”，看到许多不同的医学专家之前，一个正确的诊断（n = 38）得到确认。需要改进罕见疾病患者的诊断过程。观察到患有罕见疾病的个体的共同经验，这可能在未来用于诊断支持。
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. 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. 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. 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.