目前美国临床外体和基因组再分析的现状
Michelle Frees1,2, Jennefer N Carter3,4,5, Matthew T Wheeler3,4,5
1Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Journal of genetic counseling
|September 16, 2024
概括
大多数临床遗传实验室都提供外体和基因组再分析,但提供者发起的请求很低. 重复分析的实验室实践差异很大,可能会阻碍采用并增加供应商的负担.
科学领域:
- 基因组学就是基因组学.
- 临床诊断 临床诊断 临床诊断
- 基因检测 基因检测 基因检测
背景情况:
- 许多患者从外体或基因组测序中获得非诊断结果.
- 定期重新分析可以提高诊断产量,但实验室实践尚不清楚.
研究的目的:
- 调查临床实验室中对外体和基因组再分析的当前情况.
- 了解重新分析的产品,政策,采用和方法.
主要方法:
- 美国临床遗传实验室的调查,提供外基因组/基因组测序.
- 收集关于重新分析可用性,启动,生物信息学和计费的数据.
- 用于分析的描述性统计数据.
主要成果:
- 重新分析是广泛可用的 (96%的外体,92%的基因组).
- 大多数实验室要求提供者开始重新分析 (86%).
- 据估计,提供者发起的再分析率很低 (大多数实验室的<10%).
结论:
- 临床实验室对外体和基因组再分析的方法非常可变.
- 提供商启动要求可能有助于低采用和管理负担.
- 需要制定标准化的临床再分析协议.
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