Dysmorphology at a distance: results of a web-based diagnostic service
Dysmorphology at a distance: results of a web-based diagnostic service
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DOI：
10.1038/ejhg.2013.137
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发表时间：
2014-03-01
影响因子：
5.2
通讯作者：
Strong, K.
中科院分区：
文献类型：
--
作者：
Douzgou, S.;Clayton-Smith, J.;Strong, K.
2007年，由欧洲委员会公共卫生执行机构（EU DG Sanco）资助的DYSCERNE试点项目旨在为患有罕见畸形障碍的患者建立一个专门知识网络。作为DYSCERNE的一部分，建立了一个畸形诊断系统（DDS），使整个欧盟的临床医生能够使用一个安全的、基于网络的界面，在26个不同的欧洲国家的指定接入点（提交节点）上，以电子方式提交病例进行诊断。我们报告了2010年1月至2012年期间连续提交的200个案件的结果。每个案例平均由五位专家评审。每个病例平均有三种可能的综合征诊断。在22.5%的病例中，临床诊断一致。70.5%的病例建议进行基因检测，35.5%和26%的病例建议进行其他实验室检查和诊断性影像学检查。23.5%的案件提出了进一步的专业意见。总的来说，在200例的鉴别诊断中，总共考虑了181种非常罕见或极其罕见的遗传综合征。在两个病例中，审稿人认为这些发现代表了一种新的综合征，其中一个综合征的潜在遗传原因随后被确定。提交过程的其他好处包括有可能将病例提交人指导到特定中心进行诊断测试或参与研究，并为病例提交人和审查人带来教育方面的好处。
In 2007, the DYSCERNE pilot project funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for patients with rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System (DDS) was set up to enable clinicians throughout the EU to submit cases electronically for diagnosis using a secure, web-based interface, hosted at specified access points (Submitting nodes), in 26 different European countries. We report the outcome of this service for 200 cases submitted consecutively between January 2010 and 2012. Each case was reviewed by an average of five expert reviewers. An average of three possible syndromic diagnoses was suggested per case. In 22.5% of the cases, a consensus clinical diagnosis was reached. Genetic testing was suggested in 70.5% of the cases, whereas other laboratory investigations and diagnostic imaging were recommended in 35.5 and 26% of the cases, respectively. Further specialized opinions were suggested in 23.5% of the cases. Overall, a total of 181 very rare or extremely rare genetic syndromes were considered in the differential diagnosis of the 200 cases. In two cases, the reviewers suggested that the findings represented a new syndrome, and in one of these syndromes the underlying genetic cause was subsequently identified. Other benefits of the submission process included the possibility of directing the case submitters to specific centres for diagnostic testing or participation in research and educational benefit derived for both case submitters and reviewers.