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基因检测管理计划:非遗传学医疗服务提供者通向精准诊断的桥梁。

The Genetic Testing Stewardship Program:: A Bridge to Precision Diagnostics for the Non-genetics Medical Provider.

作者信息

Thomas Morgan, Amlie-Wolf Louise, Baker Laura, Gripp Karen W

机构信息

Nemours Children's Hospital.

出版信息

Dela J Public Health. 2021 Dec 15;7(5):20-23. doi: 10.32481/djph.2021.12.007. eCollection 2021 Dec.

DOI:10.32481/djph.2021.12.007
PMID:35619979
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9124555/
Abstract

Genetic/genomic testing can reveal important diagnostic information, provided the appropriate test is chosen and the results are interpreted accurately. Choosing an informative, cost-effective genetic testing strategy is a complex process. Nemours' Genetic Testing Stewardship Program (GTSP) is a genetic counselor-staffed consultative service serving the Nemours Children's Health (NCH) system. This program assists non-genetics providers and their patients access genetic testing for improved patient care and reduced costs. GTSP genetic counselors provide pre- and post-test genetic counseling, obtain informed consent, ensure complete documentation, and provide results interpretation/disclosure support for ordering providers. Implementation of this program began with genetic testing needs assessments and presentations about this novel service at subspecialty division meetings. GTSP expanded at NCH Delaware and NCH Orlando to include review of inpatient genetic testing for medical necessity. GTSP has experienced success from provider satisfaction and cost savings perspectives. GTSP has produced cost savings of >$400,000, supporting financial sustainability of the program. Additionally, genetic counselors bill for visits, creating the foundation for a future revenue stream which is likely to increase as reimbursement for genetic counseling services improves. GTSP has become integral in the NCH system by improving patient access to genetic testing in a safe, efficient, effective manner.

摘要

基因/基因组检测能够揭示重要的诊断信息,前提是选择了合适的检测方法并对结果进行准确解读。选择一种信息丰富、性价比高的基因检测策略是一个复杂的过程。Nemours基因检测管理项目(GTSP)是一项由基因咨询师提供的咨询服务,服务于Nemours儿童健康(NCH)系统。该项目协助非遗传学专业的医疗人员及其患者进行基因检测,以改善患者护理并降低成本。GTSP的基因咨询师提供检测前和检测后的遗传咨询,获取知情同意书,确保完整记录,并为开单的医疗人员提供结果解读/披露支持。该项目的实施始于基因检测需求评估以及在专科部门会议上对这项新服务的介绍。GTSP在NCH特拉华州分院和NCH奥兰多分院进行了扩展,将住院患者基因检测的医疗必要性审查纳入其中。从医疗人员满意度和成本节约的角度来看,GTSP取得了成功。GTSP已节省了超过40万美元的成本,为该项目的财务可持续性提供了支持。此外,基因咨询师为咨询问诊计费,为未来的收入来源奠定了基础,随着基因咨询服务报销情况的改善,收入可能会增加。GTSP通过以安全、高效、有效的方式改善患者获得基因检测的机会,已成为NCH系统中不可或缺的一部分。

相似文献

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The Genetic Testing Stewardship Program:: A Bridge to Precision Diagnostics for the Non-genetics Medical Provider.基因检测管理计划:非遗传学医疗服务提供者通向精准诊断的桥梁。
Dela J Public Health. 2021 Dec 15;7(5):20-23. doi: 10.32481/djph.2021.12.007. eCollection 2021 Dec.
2
Comparison of genetic testing documentation between genetic counselors and non-genetic counselors.遗传咨询师和非遗传咨询师之间的基因检测文件比较。
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The Importance of Genetics Experts in Optimizing Genetic Test Orders Through Prospective and Retrospective Reviews.遗传专家在通过前瞻性和回顾性审查优化遗传检测订单方面的重要性。
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Characterization of genetic counselor practices in inpatient care settings.住院医疗环境中遗传咨询师实践的特征描述。
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PLoS One. 2020 May 29;15(5):e0233411. doi: 10.1371/journal.pone.0233411. eCollection 2020.

本文引用的文献

1
The Importance of Genetics Experts in Optimizing Genetic Test Orders Through Prospective and Retrospective Reviews.遗传专家在通过前瞻性和回顾性审查优化遗传检测订单方面的重要性。
Am J Clin Pathol. 2020 Mar 9;153(4):537-547. doi: 10.1093/ajcp/aqz188.
2
Primary Care Physicians' Knowledge, Attitudes, and Experience with Personal Genetic Testing.基层医疗医生关于个人基因检测的知识、态度及经验
J Pers Med. 2019 May 24;9(2):29. doi: 10.3390/jpm9020029.
3
Current conditions in medical genetics practice.当前医学遗传学实践中的情况。
Genet Med. 2019 Aug;21(8):1874-1877. doi: 10.1038/s41436-018-0417-6. Epub 2019 Jan 28.
4
A Rapid Systematic Review of Outcomes Studies in Genetic Counseling.遗传咨询结局研究的快速系统评价
J Genet Couns. 2017 Jun;26(3):361-378. doi: 10.1007/s10897-017-0067-x. Epub 2017 Feb 6.
5
Preventing Genetic Testing Order Errors With a Laboratory Utilization Management Program.通过实验室利用管理程序防止基因检测医嘱错误。
Am J Clin Pathol. 2016 Aug;146(2):221-6. doi: 10.1093/ajcp/aqw105.