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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。

Improving Molecular Genetic Test Utilization through Order Restriction, Test Review, and Guidance.

作者信息

Riley Jacquelyn D, Procop Gary W, Kottke-Marchant Kandice, Wyllie Robert, Lacbawan Felicitas L

机构信息

Department of Laboratory Medicine, Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio.

Medical Operations Division, Cleveland Clinic, Cleveland, Ohio.

出版信息

J Mol Diagn. 2015 May;17(3):225-9. doi: 10.1016/j.jmoldx.2015.01.003. Epub 2015 Feb 27.

DOI:10.1016/j.jmoldx.2015.01.003
PMID:25732008
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5707195/
Abstract

The ordering of molecular genetic tests by health providers not well trained in genetics may have a variety of untoward effects. These include the selection of inappropriate tests, the ordering of panels when the assessment of individual or fewer genes would be more appropriate, inaccurate result interpretation and inappropriate patient guidance, and significant unwarranted cost expenditure. We sought to improve the utilization of molecular genetic tests by requiring providers without specialty training in genetics to use genetic counselors and molecular genetic pathologists to assist in test selection. We used a genetic and genomic test review process wherein the laboratory-based genetic counselor performed the preanalytic assessment of test orders and test triage. Test indication and clinical findings were evaluated against the test panel composition, methods, and test limitations under the supervision of the molecular genetic pathologist. These test utilization management efforts resulted in a decrease in genetic test ordering and a gross cost savings of $1,531,913 since the inception of these programs in September 2011 through December 2013. The combination of limiting the availability of complex genetic tests and providing guidance regarding appropriate test strategies is an effective way to improve genetic tests, contributing to judicious use of limited health care resources.

摘要

未经良好遗传学培训的医疗服务提供者进行分子遗传学检测的安排可能会产生多种不良影响。这些影响包括选择不适当的检测、在评估单个或较少基因更为合适时却安排检测组合、对检测结果的解读不准确以及对患者的指导不恰当,还有大量不必要的费用支出。我们试图通过要求未接受遗传学专业培训的医疗服务提供者利用遗传咨询师和分子遗传病理学家来协助检测选择,以提高分子遗传学检测的利用率。我们采用了一种遗传和基因组检测审查流程,其中基于实验室的遗传咨询师对检测订单进行分析前评估并进行检测分类。在分子遗传病理学家的监督下,对照检测组合构成、方法和检测局限性对检测指征和临床发现进行评估。自2011年9月至2013年12月这些项目启动以来,这些检测利用管理措施导致遗传学检测订单减少,总成本节省了1,531,913美元。限制复杂遗传学检测的可及性并提供关于适当检测策略的指导相结合,是改善遗传学检测的有效方法,有助于明智地使用有限的医疗资源。

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本文引用的文献

1
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。
Am J Med Genet A. 2014 May;164A(5):1094-101. doi: 10.1002/ajmg.a.36453. Epub 2014 Mar 24.
2
Genetic testing utilization and the role of the laboratory genetic counselor.基因检测的应用和实验室遗传咨询师的作用。
Clin Chim Acta. 2014 Jan 1;427:193-5. doi: 10.1016/j.cca.2013.09.033. Epub 2013 Sep 29.
3
Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training.神经科医生和精神科医生对基因检测的使用:知识、态度、行为及培训需求
J Genet Couns. 2014 Apr;23(2):156-63. doi: 10.1007/s10897-013-9624-0. Epub 2013 Jun 21.
4
Academic family physicians' perception of genetic testing and integration into practice: a CERA study.学术家庭医生对基因检测及其融入临床实践的看法:一项CERA研究。
Fam Med. 2013 Apr;45(4):257-62.
5
Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1.基层医疗医生对其执行基本医学遗传学任务能力的信心——一项在五个国家开展的欧洲调查——第1部分
J Community Genet. 2011 Mar;2(1):1-11. doi: 10.1007/s12687-010-0030-0. Epub 2010 Dec 4.