The "Genetic Test Request": A genomic stewardship intervention for inpatient exome and genome orders at a tertiary pediatric hospital.

IF 6.6 1区医学 Q1 GENETICS & HEREDITY Genetics in Medicine Pub Date : 2024-11-15 DOI:10.1016/j.gim.2024.101330

Lisa F Saba, Haley Streff, Dolores Lopez-Terrada, Jennifer Scull

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引用次数: 0

Abstract

Purpose: Exome and genome sequencing (ES, GS) are useful tests to diagnose rare disease in pediatric patients in critical care settings. Genomic test stewardship can increase appropriate use of these tests leading to improved diagnostics and cost savings.

Methods: Mandatory review of ES and GS orders for admitted patients was implemented in March 2023. Outcomes of the reviews, cost analysis, and subsequent test results through February 2024 were analyzed with descriptive statistics.

Results: There were 444 Genetic Test Request (GTR) orders placed for 412 unique patients. Of these, 81 (18.2%) were redirected and 57 (12.8%) required modification after approval leading to an overall cost savings of $345,821.00 USD or $778 USD per order. The combined diagnostic rate was 28.2% in this patient population.

Conclusion: Stewardship of ES/GS orders for pediatric inpatients is an effective tool to improve appropriate usage of these genomic tests. Additional collaboration with stakeholders and expansion of genomic stewardship initiatives may shorten the diagnostic odyssey for critically ill pediatric patients and result in cost savings.

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基因检测申请"：一家三级儿科医院对住院病人外显子组和基因组订单的基因组管理干预。

目的：外显子组和基因组测序（ES、GS）是诊断重症监护环境中儿科患者罕见疾病的有用检测方法。基因组检验管理可提高这些检验的合理使用率，从而改善诊断并节约成本：方法：2023 年 3 月开始对入院患者的 ES 和 GS 订单进行强制审查。方法：2023 年 3 月开始对入院患者的 ES 和 GS 订单进行强制审核，通过描述性统计分析了审核结果、成本分析以及截至 2024 年 2 月的后续检测结果：结果：共为 412 名患者下达了 444 份基因检测申请单（GTR）。其中，81 份（18.2%）被重新定向，57 份（12.8%）在批准后需要修改，从而节省了总成本 345,821.00 美元，即每份订单节省 778 美元。该患者群体的综合诊断率为 28.2%：结论：对儿科住院患者的 ES/GS 订单进行管理是提高这些基因组检验合理使用率的有效工具。与利益相关者开展更多合作并扩大基因组监管措施的范围，可缩短儿科重症患者的诊断时间并节约成本。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.