在临床测序中可操作的单基发现后,对医疗保健利用的前性多站点研究
Jodell E Linder1, Ran Tao1, Wendy K Chung2
1Vanderbilt University Medical Center, Nashville, TN 37203, USA.
American journal of human genetics
|October 26, 2023
概括
基因组查可行的结果增加了病原性或可能病原性 (P/LP) 发现的个体的医疗保健服务和成本. 这项研究强调了基因检测回报后对医疗保健开支的适度影响.
科学领域:
- 基因组学就是基因组学.
- 医疗保健利用情况 医疗保健利用情况
- 临床影响评估临床影响评估
背景情况:
- 大规模的基因组查正在变得越来越普遍.
- 了解可操作的遗传结果对医疗保健的影响对于评估长期临床价值至关重要.
- eMERGE网络实施了基因组查和结果返回.
研究的目的:
- 为了比较那些具有可操作的基因组发现的个人与没有的个人所获得的医疗保健服务.
- 在返回可操作的基因组结果后,评估医疗保健利用和成本的变化.
- 评估返回单基风险结果的临床效用和经济影响.
主要方法:
- 在结果返回后12个月内比较医疗保健服务 (实验室,成像,程序测试).
- 将具有致病或可能致病 (P/LP) 发现的个体与具有负结果的个体匹配.
- 分析了服务利用率和年度医疗保健成本在结果回报之前和之后的差异.
主要成果:
- 与之前 (25.6%) 和负结果 (24.9%) 相比,P/LP发现的个人在结果返回后 (43.8%) 更频繁地获得服务.
- 在结果返回后,P/LP组的年度医疗费用显著增加 (从162美元增加到343美元),平均差异差异为149美元.
- 对于心律失常,乳腺癌和心肌病,观察到显著的成本增加.
结论:
- 不到一半的个人在收到可操作的单一基因结果后接受了收费医疗服务.
- 返回可操作的基因组结果在返回后的一年中适度增加了纳税人的医疗保健费用.
- 这些发现强调了将基因组信息整合到临床实践中的重要性,并了解其相关的医疗保健利用.
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