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促进适当的基因检测:联合测试审查和咨询服务的影响。

Promoting appropriate genetic testing: the impact of a combined test review and consultative service.

机构信息

Department of Pathology, Stanford University, Stanford, California, USA.

Stanford Health Care, Stanford, California, USA.

出版信息

Genet Med. 2017 Sep;19(9):1049-1054. doi: 10.1038/gim.2016.219. Epub 2017 Jan 26.

DOI:10.1038/gim.2016.219
PMID:28125079
Abstract

PURPOSE

Genetic test misorders can adversely affect patient care. However, little is known about the types of misorders and the overall impact of a utilization management (UM) program on curbing misorders. This study aimed to identify different types of misorders and analyze the impact of a combined test review and consultative service on reducing misorders over time.

METHODS

Selected genetic tests were systematically reviewed between January and December 2015 at Stanford Health Care. Misorders were categorized into five types: clerical errors, redundant testing, better alternatives, controversial, and uncategorized. Moreover, consultations were offered to help clinicians with test selection.

RESULTS

Of the 629 molecular test orders reviewed, 13% were classified as misorders, and 7% were modified or canceled. Controversial misorders constitute the most common type (42%); however, unlike the other misorder types, they were negligibly affected by test review. Simultaneously, 71 consults were received. With the introduction of the UM program, genetic test misorders went from 22% at baseline to 3% at the end of the year.

CONCLUSION

Our results show that the combined approach of test review and consultative service effectively reduced misorders over time and suggest that a UM program focused on eliminating misorders can positively influence health-care providers' behaviors.Genet Med advance online publication 26 January 2017.

摘要

目的

基因检测错误可能会对患者治疗产生不利影响。然而,人们对错误类型以及利用管理(UM)项目对遏制错误的整体影响知之甚少。本研究旨在确定不同类型的错误,并分析综合检测审查和咨询服务对随时间减少错误的影响。

方法

2015 年 1 月至 12 月,斯坦福健康医疗中心对选定的基因检测进行了系统审查。错误被分为五类:文书错误、重复检测、更好的替代方案、有争议的和未分类的。此外,还提供咨询服务以帮助临床医生选择检测。

结果

在审查的 629 项分子检测订单中,13%被归类为错误订单,其中 7%被修改或取消。有争议的错误构成最常见的类型(42%);然而,与其他错误类型不同,审查对其影响可以忽略不计。同时,共收到 71 次咨询。随着 UM 项目的引入,基因检测错误从基线时的 22%下降到年底的 3%。

结论

我们的研究结果表明,检测审查和咨询服务的综合方法可随时间有效减少错误,并提示以消除错误为重点的 UM 项目可以积极影响医疗服务提供者的行为。遗传医学在线发表 2017 年 1 月 26 日。

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Improving Molecular Genetic Test Utilization through Order Restriction, Test Review, and Guidance.通过订单限制、检测审查和指导提高分子遗传学检测的利用率。
J Mol Diagn. 2015 May;17(3):225-9. doi: 10.1016/j.jmoldx.2015.01.003. Epub 2015 Feb 27.
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Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing.
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Genet Med. 2020 Sep;22(9):1437-1449. doi: 10.1038/s41436-020-0825-2. Epub 2020 Jun 24.
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Genetic Counseling and Genome Sequencing in Pediatric Rare Disease.儿科罕见病的遗传咨询和基因组测序。
Cold Spring Harb Perspect Med. 2020 Mar 2;10(3):a036632. doi: 10.1101/cshperspect.a036632.
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The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia.基因组咨询服务:一项旨在优化不列颠哥伦比亚省全基因组测序患者选择的临床服务。
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