Improving genetic testing utilization in a tertiary care neonatal intensive care unit through quality improvement.

IF 1.7 4区 生物学 Q3 GENETICS & HEREDITY American Journal of Medical Genetics Part A Pub Date : 2024-08-12 DOI:10.1002/ajmg.a.63834
Andrew T Jacobsmeyer, Lauren B Carter, Talia L Buitrago-Mogollon, Blanche White, Jasmyne-Rian Charles, Jessica P Clarke-Pounder, Jodi Amador
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Abstract

There is an increasing recognition of the importance of diagnosing genetic conditions with an ever-growing list of genetic testing options. However, most providers do not have formal genetics training, which makes choosing the most appropriate test to order challenging. Our project sought to improve cytogenetic testing utilization in a tertiary care neonatal intensive care unit (NICU) through utilizing quality improvement techniques, specifically the Model for Improvement framework with rapid Plan-Do-Study-Act cycles. Our project utilized various interventions including the implementation of a NICU genetic testing algorithm. Interventions demonstrated improvement in all areas, specifically a 92% reduction in unnecessary cytogenetic testing with improvement in the diagnostic rate. Our work also resulted in a 59% decrease in charges with an estimated projected savings of $21,000 per year. Quality improvement can minimize redundancies and inefficiencies in genetic testing in a Level IV NICU in a large tertiary care children's hospital and result in substantial cost-savings.

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通过质量改进提高新生儿重症监护病房基因检测的利用率。
人们越来越认识到诊断遗传病的重要性,基因检测的选择也越来越多。然而,大多数医疗服务提供者并没有接受过正规的遗传学培训,因此选择最合适的检测项目具有挑战性。我们的项目旨在利用质量改进技术,特别是采用快速 "计划-执行-研究-行动 "周期的 "改进模式 "框架,提高三级护理新生儿重症监护病房(NICU)的细胞遗传学检测利用率。我们的项目采用了各种干预措施,包括实施新生儿重症监护室基因检测算法。干预措施在所有方面都取得了改善,特别是不必要的细胞遗传学检测减少了 92%,诊断率也有所提高。我们的工作还使收费减少了 59%,预计每年可节省 21,000 美元。在一家大型三甲儿童医院的四级新生儿重症监护室中,质量改进可以最大限度地减少基因检测中的冗余和低效,从而节省大量成本。
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来源期刊
CiteScore
3.50
自引率
5.00%
发文量
432
审稿时长
2-4 weeks
期刊介绍: The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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