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Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.释放数据:一个实验室基于知识的基因组变异分类方法及为基因组数据与电子病历集成做准备。
Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.
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Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.健康个体中有害和致病变异体的流行率:来自当前预测、突变数据库和全人群重测序的见解。
Am J Hum Genet. 2012 Dec 7;91(6):1022-32. doi: 10.1016/j.ajhg.2012.10.015.
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Usability of a novel clinician interface for genetic results.新型临床医生界面在遗传结果中的可用性。
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Communicating new knowledge on previously reported genetic variants.就先前报道的基因变异传播新知识。
Genet Med. 2012;14(8):713-719. doi: 10.1038/gim.2012.19. Epub 2012 Apr 5.
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Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.外显子组时代评估扩张型心肌病罕见变异的致病性。
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Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.在多达66924名欧洲血统个体中,罕见且具有功能的SIAE变体与自身免疫性疾病风险无关。
Nat Genet. 2011 Dec 27;44(1):3-5. doi: 10.1038/ng.1037.
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American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.美国医学遗传学学会关于产后先天性拷贝数变异的解读和报告的标准和指南。
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The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing.GeneInsight 套件:一个支持实验室和提供者使用基于 DNA 的基因检测的平台。
Hum Mutat. 2011 May;32(5):532-6. doi: 10.1002/humu.21470. Epub 2011 Mar 22.
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Carrier testing for severe childhood recessive diseases by next-generation sequencing.下一代测序技术在严重儿童隐性疾病中的携带者检测
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Inherited susceptibility to common cancers.常见癌症的遗传易感性。
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一种新颖的临床医生界面,可改善临床医生获取最新基因结果的途径。

A novel clinician interface to improve clinician access to up-to-date genetic results.

机构信息

Clinical and Quality Analysis, Partners HealthCare System, Inc, Wellesley, Massachusetts, USA.

出版信息

J Am Med Inform Assoc. 2014 Feb;21(e1):e117-21. doi: 10.1136/amiajnl-2013-001965. Epub 2013 Sep 7.

DOI:10.1136/amiajnl-2013-001965
PMID:24013137
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3957398/
Abstract

OBJECTIVES

To understand the impact of GeneInsight Clinic (GIC), a web-based tool designed to manage genetic information and facilitate communication of test results and variant updates from the laboratory to the clinics, we measured the use of GIC and the time it took for new genetic knowledge to be available to clinicians.

METHODS

Usage data were collected across four study sites for the GIC launch and post-GIC implementation time periods. The primary outcome measures were the time (average number of days) between variant change approval and notification of clinic staff, and the time between notification and viewing the patient record.

RESULTS

Post-GIC, time between a variant change approval and provider notification was shorter than at launch (average days at launch 503.8, compared to 4.1 days post-GIC). After e-mail alerts were sent at launch, providers clicked into the patient record associated with 91% of these alerts. In the post period, clinic providers clicked into the patient record associated with 95% of the alerts, on average 12 days after the e-mail was sent.

DISCUSSION

We found that GIC greatly increased the likelihood that a provider would receive updated variant information as well as reduced the time associated with distributing that variant information, thus providing a more efficient process for incorporating new genetic knowledge into clinical care.

CONCLUSIONS

Our study results demonstrate that health information technology systems have the potential effectively to assist providers in utilizing genetic information in patient care.

摘要

目的

为了了解 GeneInsight Clinic(GIC)的影响,这是一个基于网络的工具,旨在管理遗传信息,并促进实验室向诊所传递测试结果和变体更新。我们测量了 GIC 的使用情况以及新遗传知识可供临床医生使用的时间。

方法

在 GIC 启动和实施后的时间段内,在四个研究地点收集使用数据。主要的结果衡量标准是变体更改批准与通知诊所工作人员之间的时间(平均天数),以及通知和查看患者记录之间的时间。

结果

在 GIC 实施后,变体更改批准与提供者通知之间的时间比启动时短(启动时的平均天数为 503.8,而 GIC 实施后为 4.1 天)。在启动时发送电子邮件提醒后,提供者点击了与 91%的这些提醒相关的患者记录。在后续期间,诊所提供者平均在电子邮件发送后 12 天点击了与 95%的提醒相关的患者记录。

讨论

我们发现 GIC 大大增加了提供者接收更新变体信息的可能性,并减少了分发变体信息所需的时间,从而为将新遗传知识纳入临床护理提供了更有效的流程。

结论

我们的研究结果表明,健康信息技术系统有可能有效地帮助提供者在患者护理中利用遗传信息。