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.
摘要：
随着基因检测选项的不断增加，人们越来越认识到诊断遗传状况的重要性。然而,大多数提供者没有正规的遗传学培训，这使得选择最合适的测试来订购具有挑战性。我们的项目旨在通过利用质量改进技术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，特别是具有快速计划-做-研究-行动周期的改进框架模型。我们的项目利用了各种干预措施，包括实施NICU遗传测试算法。干预措施显示在所有领域都有所改善，特别是减少92%的不必要的细胞遗传学检测和提高诊断率。我们的工作还使费用减少了59％，预计每年可节省21,000美元。质量改进可以最大程度地减少在一家大型三级保健儿童医院的IV级NICU中基因检测的冗余和低效率，并节省大量成本。
