在脑中遗传发现的临床可行性
medRxiv : the preprint server for health sciences
|September 25, 2023
概括
脑 (CP) 中可操作的遗传发现发生在8%的患者中,为精准医学干预提供中等至高的临床实用性. 需要进一步的研究来加强这些遗传诊断的证据基础.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 临床医学 临床医学
背景情况:
- 单基因突变越来越多地被确定为脑 (CP) 的原因.
- 缺乏标准化的框架来衡量这些遗传突变的临床影响.
- 评估CP遗传检测的临床实用性对于指导患者护理至关重要.
研究的目的:
- 在CP患者中评估致病性/可能致病性 (P/LP) 变异.
- 为了确定基因检测结果的频率,在临床管理中需要改变.
- 建立关于CP遗传发现临床实用性的共识.
主要方法:
- 从临床和研究CP队列的OMIM基因中分析已发表的P/LP变异.
- 对与遗传性疾病相关的管理方法的文献进行系统审查.
- 由多学科工作组修改的Delphi方法来评估临床效用 (结果严重性,安全性/实用性,疗效).
主要成果:
- 在8% (140/1,841) 的CP患者中,发现了可采取行动的遗传诊断.
- 在58个可操作的基因中,16个具有主要治疗机制,16个预防策略和26个症状管理.
- 干预措施显示了中等至高的临床效用,其中97%解决了中等至高严重程度的结果,62%预测了中等至高的疗效.
结论:
- 在8%的CP病例中,可操作的遗传发现支持在精准医学中使用遗传测序.
- 基因检测具有中等至高的临床效用,可能改善CP患者的治疗结果.
- 许多干预措施的证据基础有限,这凸显了进一步研究的必要性.
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