Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience
Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience
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DOI：
10.1159/000440710
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发表时间：
2016-01-01
影响因子：
1.7
通讯作者：
Clayton-Smith, Jill
中科院分区：
文献类型：
--
作者：
Douzgou, Sofia;Pollalis, Yiannis A.;Clayton-Smith, Jill
大数据革命对卫生部门提供服务提出了挑战，以满足公众的期望。利用众包可以积极影响医疗保健的质量，成本和速度，涉及大量的专业人士和公众，并在道德框架内创造新的科学。2007年，DYSCERNE项目由欧盟委员会公共卫生执行机构（EU DG Sanco）资助，旨在建立一个罕见畸形障碍的专业知识网络。作为DYSCERNE的一部分，建立了一个畸形诊断系统，使整个欧盟的临床医生能够使用安全的基于网络的界面以电子方式提交病例进行诊断，该界面托管在26个不同欧洲国家的指定接入点（提交节点）。DYSCERNE利用众包国际专业知识的过程，对多种先天性异常的非常罕见的遗传综合征进行临床诊断。这是第一个报告的帐户协作众包畸形，作为临床遗传学服务的一部分。(C)2015 S. Karger AG，巴塞尔
The big-data revolution is creating a challenge for the provision of services in the health sector to keep pace with the expectations of the general population. Utilization of crowd-sourcing can impact positively on the quality, cost and speed of healthcare by involving large sections of professionals and the public and creating novel science within an ethical framework. In 2007, the DYSCERNE project was funded by the European Commission Public Health Executive Agency (EU DG Sanco) aimed at setting up a network of expertise for rare dysmorphic disorders. As part of DYSCERNE, a Dysmorphology Diagnostic System 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. DYSCERNE utilized the process of crowdsourcing international expertise for the clinical diagnosis of very rare genetic syndromes of multiple congenital anomalies. This is the first reported account of collaborative crowd sourcing in dysmorphology, as part of a clinical genetics service. (C) 2015 S. Karger AG, Basel