小组测试标准:临床评估
Andrew C Fazenbaker1,2, Christine D Munro1, Jenna C Carlson1,3
1Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania, USA.
Journal of genetic counseling
|May 29, 2023
概括
评估了板测试标准的准确性. 纳入家族病史显著提高了敏感性,有助于患者进行适当的基因测试,并为保险覆盖决定提供了信息.
科学领域:
- 神经学 神经学
- 遗传学 遗传学 是一个
- 医学诊断 医学诊断 医学诊断
背景情况:
- 是一种常见的神经系统疾病,常有遗传成分.
- 现有指导方针对于订购和覆盖病面板 (EPs) 是有限的.
- 匹兹堡UPMC儿童医院 (CHP) 的基因测试管理计划 (GTSP) 自2017年以来就已经制定了EP测试的内部标准.
研究的目的:
- 评估内部开发 (EP) 面板测试标准的敏感性和积极预测值 (PPV).
- 提供数据支持EP订单和保险覆盖的基于证据的指导方针.
主要方法:
- 在2016-2018年期间诊断出的1242名神经病患者的电子病历 (EMR) 的回顾性图表审查.
- 对109名接受EP检测的患者的分析,将标准分类为组 (C1-C4).
- 对每个类别分组的敏感性和PPV的评估,单独和组合.
主要成果:
- 根据类别的最高灵敏度和PPV有所不同:C1 (64.7%,60%),C2 (88%,30.3%),C3 (94.1%,27.1%),C4 (94.1%,25.4%).
- 家庭病史被确定为提高测试灵敏度的关键因素.
- 将C4 PPV应用于未经测试的队列预测了121名额外的患者具有阳性EP.
结论:
- 该研究支持EP测试标准的预测能力,并建议纳入家族史.
- 这些发现可以为在中进行基因测试的证据驱动的保险政策的制定提供信息.
- 改进的指导方针可以促进适当的EP订购和覆盖,从而有可能提高患者获得诊断测试的机会.
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