国际未诊断疾病计划 (UDP):组成部分和结果
Ela Curic1, Lisa Ewans1,2,3, Ryan Pysar1,2,4
1Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, School of Clinical Medicine, University of New South Wales, Bright Alliance Building, Level 8, Randwick, NSW, Australia.
Orphanet journal of rare diseases
|November 10, 2023
概括
未诊断疾病计划 (UDPs) 整合了研究和临床护理,以诊断罕见的遗传疾病. 审查全球UDP突出了常见的步骤及其优势,改善了复杂病例的诊断产量.
科学领域:
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
- 医学诊断 医学诊断 医学诊断
背景情况:
- 在过去的15年里,未经诊断的疾病计划 (UDP) 在全球范围内出现了.
- 它们解决了对诊断罕见遗传疾病的未满足需求.
- 无线诊断计划将研究和临床护理整合在一起,以改善诊断结果.
研究的目的:
- 全球审查和总结关于未诊断疾病计划的出版文献.
- 探索UDPs的诊断和研究过程中的共同点.
- 评估UDP中的关键步骤的优势和局限性.
主要方法:
- 关于UDPs的出版文献的叙事综述.
- 包括十三项评估结果的研究和两篇评论论文.
- 评估六个常见的UDP步骤:招生,表型,研究诊断,数据共享,结果和后续.
主要成果:
- 目前的文献强调了UDP在研究诊断中的实用性.
- 研究管道使先进的诊断方法能够超越标准测序 (例如,多omics).
- 诊断产量有所不同,反映了UDP的潜力,但具有挑战性的直接比较.
结论:
- UDP显示出诊断罕见遗传疾病的巨大潜力.
- 需要进一步进行全球结果比较,以完善UDP流程.
- 改善UDP提高了它们在罕见疾病诊断和研究中的价值和实用性.
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