西班牙未确诊罕见病项目(SpainUDP):西班牙未确诊罕见病项目。
SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
机构信息
Institute of Rare Diseases Research (IIER) & Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
出版信息
Int J Environ Res Public Health. 2018 Aug 14;15(8):1746. doi: 10.3390/ijerph15081746.
One of the IRDiRC goals for 2017⁻2027 is to achieve definitive diagnosis for rare undiagnosed diseases within one year, as delay in diagnosis remains one of the pending issues in the rare diseases field. The Spanish Undiagnosed Rare Diseases Program (SpainUDP) was created in response to this challenging scenario to cover patients' needs and after seeing the success of the Undiagnosed Diseases Program (UDP) in the USA. SpainUDP offers a multidisciplinary approach to those patients who have long sought a diagnosis without any success. During the first phase of the protocol, undiagnosed cases are sent to SpainUDP by individual patients or families, patient organizations or hospitals. After careful analysis of phenotype, data from sequencing experiments (WES) is processed with a standard pipeline and detailed standardized phenotypic information (mapped to the Human Phenotype Ontology, HPO) is connected to genetic data. In addition, the participation of SpainUDP in international initiatives such as the European projects RD-Connect and Solve RD, the Undiagnosed Diseases Network International (UDNI), and the MatchMaker Exchange (MME) platform, allows the establishment of a global data sharing strategy across multiple projects submitting data to these international initiatives. From the official beginning of the program (at the end of 2015) until early 2018, 147 cases were accepted in SpainUDP. During this time, 37 cases (25%) dropped out the program due to several reasons. The remaining 110 cases are distributed as follows: phenotypic and genotypic (WES) characterization was finished in 30 cases, of which 20 (67%) were diagnosed; 21 cases are pending on variants' validation by Sanger sequencing; in 25 cases, WES is ongoing and 34 cases are being studied for deep phenotypic characterization. In conclusion, SpainUDP aims to achieve a diagnosis following two recommendations of the IRDiRC: the patients' diagnosis in as short a time as possible and the promotion of data sharing (especially genomic) at the international level.
IRDiRC 的 2017-2027 年目标之一是在一年内为罕见的未确诊疾病做出明确诊断,因为诊断延误仍然是罕见病领域的待解决问题之一。西班牙未确诊罕见疾病计划(SpainUDP)是为了应对这种具有挑战性的情况而创建的,旨在满足患者的需求,并借鉴了美国未确诊疾病计划(UDP)的成功经验。SpainUDP 为那些长期寻求诊断但未成功的患者提供了一种多学科的方法。在协议的第一阶段,未确诊的病例由个别患者或其家属、患者组织或医院提交给 SpainUDP。在仔细分析表型后,对测序实验(WES)的数据进行处理,使用标准的流程,并将详细的标准化表型信息(映射到人类表型本体,HPO)连接到遗传数据。此外,SpainUDP 参与了欧洲项目 RD-Connect 和 Solve RD、国际未确诊疾病网络(UDNI)以及 MatchMaker Exchange(MME)平台等国际倡议,允许在多个项目之间建立一个全球数据共享策略,这些项目向这些国际倡议提交数据。自该计划正式启动(2015 年底)至 2018 年初,SpainUDP 共接收了 147 例病例。在此期间,由于多种原因,37 例(25%)病例退出了该计划。其余 110 例病例的分布情况如下:30 例完成了表型和基因型(WES)特征描述,其中 20 例(67%)得到了诊断;21 例正在等待 Sanger 测序验证变异;25 例正在进行 WES,34 例正在进行深入的表型特征描述。总之,SpainUDP 的目标是按照 IRDiRC 的两条建议进行诊断:一是尽可能在短时间内为患者做出诊断,二是在国际层面促进数据共享(特别是基因组数据)。