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当前遗传检测管理状况:一项多中心前瞻性研究。

The current landscape of genetic test stewardship: A multi-center prospective study.

机构信息

Regions Hospital/HealthPartners, St. Paul, MN, USA.

Seattle Children's Hospital/PLUGS, Seattle, WA, USA.

出版信息

J Genet Couns. 2021 Aug;30(4):1203-1210. doi: 10.1002/jgc4.1403. Epub 2021 Mar 17.

DOI:10.1002/jgc4.1403
PMID:33728729
Abstract

Genetic counselors (GCs) play a pivotal role in selecting clinically appropriate and cost-effective genetic testing. Several single-institution reports over the past decade provide evidence of the value GCs bring to this stewardship role across diverse settings in healthcare, including hospital laboratories, commercial laboratories, and insurance companies. This multi-center, prospective, and quantitative study describes the outcomes of GC review of genetic test requests over a four-week period at six hospital laboratories and three commercial laboratories, thus expanding our understanding of this emerging specialty in the genetic counseling field. This study also highlights the added value of utilizing GC expertise in stewardship efforts, namely selecting the most appropriate genetic testing and realizing significant cost savings. GC review of genetic test requests led to an average order modification rate of 22%-25%. It also resulted in significant cost savings to institutions. The projected average annual savings after GC review of genetic test requests approximated $665,600 for hospital laboratories and $1,651,000 for commercial laboratories. These study findings demonstrate the significant value of GC-led genetic test stewardship programs, allow for comparisons across institutions currently performing genetic test stewardship, and support the implementation of a GC-led stewardship program at institutions who currently do not have one.

摘要

遗传咨询师(GCs)在选择临床适用且具有成本效益的基因检测方面发挥着关键作用。过去十年中的几项单机构报告提供了证据,证明 GCs 在医疗保健的各种环境中,包括医院实验室、商业实验室和保险公司,在这一管理角色中具有价值。这项多中心、前瞻性和定量研究描述了在六家医院实验室和三家商业实验室的四周内,GC 对基因检测请求进行审查的结果,从而扩展了我们对遗传咨询领域这一新兴专业的理解。这项研究还强调了利用 GC 专业知识进行管理工作的附加值,即选择最合适的基因检测并实现显著的成本节约。GC 对基因检测请求的审查导致平均订单修改率为 22%-25%。它还为机构节省了大量成本。经过 GC 对基因检测请求的审查,医院实验室的预测平均年度节省额约为 665,600 美元,商业实验室的预测平均年度节省额约为 1,651,000 美元。这些研究结果表明,GC 主导的基因检测管理计划具有重大价值,允许在目前正在进行基因检测管理的机构之间进行比较,并支持在目前没有 GC 主导的管理计划的机构实施 GC 主导的管理计划。

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The current landscape of genetic test stewardship: A multi-center prospective study.当前遗传检测管理状况:一项多中心前瞻性研究。
J Genet Couns. 2021 Aug;30(4):1203-1210. doi: 10.1002/jgc4.1403. Epub 2021 Mar 17.
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Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing.遗传咨询师对参考实验室的基因检测订单进行审核可减少不必要的检测。
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引用本文的文献

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JMIR Form Res. 2025 Apr 30;9:e63028. doi: 10.2196/63028.
2
Clinical decision support with a comprehensive in-EHR patient tracking system improves genetic testing follow up.通过综合的电子健康记录(EHR)患者跟踪系统提供临床决策支持可改善基因检测的随访。
J Am Med Inform Assoc. 2023 Jun 20;30(7):1274-1283. doi: 10.1093/jamia/ocad070.
3
Current state of laboratory test utilization practices in the clinical laboratory.
临床实验室中实验室检测应用实践的现状。
Acad Pathol. 2022 Aug 9;9(1):100039. doi: 10.1016/j.acpath.2022.100039. eCollection 2022.