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在二次发现的背景下实施基于证据的临床可行性断言:ClinGen可行性工作组的更新
Christine M Pak1, Marian J Gilmore1, Joanna E Bulkley1
1Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR.
概括
临床基因可操作性工作组 (AWG) 扩大了其框架,包括基因条件对的可操作性断言. 这提高了基因组测序的二次发现的临床实用性.
科学领域:
- 基因组学就是基因组学.
- 临床遗传学 临床遗传学
- 生物信息学是一种生物信息学.
背景情况:
- 临床基因可操作性工作组 (AWG) 在二次发现中开发了基因条件对可操作性的框架.
- 这一框架旨在规范对可操作的遗传变异的评估.
研究的目的:
- 扩大现有的AWG框架,以纳入可操作性断言.
- 提高基因组测序的二次发现的临床实用性和决策支持.
主要方法:
- 基于专家评估和反的可操作性标签的代改进.
- 通过将27个基因条件对整合到可操作性评估中,对标题进行实用性评估.
- 为初步断言制定一个四分级 (有限,中等,强,明确) 的表格.
主要成果:
- 建立了一个基于共识的断言过程,以预先定义的标准指导讨论.
- 基于得分最高的结果-干预对的初步断言,可以通过共识进行修改.
- 对所有先前得分的对来说,断言已被追溯生成,有超过170个成年人和188个儿科对被前性评估.
结论:
- 扩展的AWG框架现在提供可操作性断言,增加了资源的临床价值.
- 这些断言可以为临床医生提供更好的决策辅助,以帮助医生决定是否返回二次发现.
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