临床队列中常见的疾病 - - 并非总是看起来像什么
Fedik Rahimov1, Benjamin M Jacobs2,3, John S Lee1
1Genomics Research Center, AbbVie, North Chicago, IL.
The New England journal of medicine
|October 22, 2025
概括
未诊断的罕见疾病可能会使常见疾病的诊断和治疗复杂化. 系统的基因组测序有助于识别这些罕见疾病,改善患者护理和临床试验见解.
科学领域:
- 基因组学就是基因组学.
- 罕见疾病 罕见疾病
- 临床诊断 临床诊断 临床诊断
背景情况:
- 在患有常见疾病的患者中错误诊断罕见疾病会延迟治疗.
- 罕见疾病对常见疾病诊断的影响在研究中的研究不足.
研究的目的:
- 评估被诊断患有常见疾病的患者中单源罕见疾病的发病率.
- 调查罕见疾病在常见疾病的诊断挑战中的作用.
主要方法:
- 利用来自英国生物库和临床试验的外体和基因组测序数据.
- 分析了初级诊断为多发性硬化症,炎症性肠道疾病和亚托皮炎的参与者.
- 结合基因组和转录组分析以了解治疗反应.
主要成果:
- 在常见疾病队列中确定了153名患有单一性疾病罕见变异的参与者.
- 在研究的常见疾病人群中观察到1.12%至2.86%的罕见疾病变异发生率.
- 在独立的队列中重复发现,并将分子诊断与治疗反应联系起来.
结论:
- 系统的基因组测序对于理解疾病异质性和识别未被诊断的罕见疾病是有价值的.
- 深度分子表型化通过揭示罕见疾病来增强临床试验和患者护理.
- 强调在复杂患者病例中基因分析的重要性.
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