Division of Neonatology, Children's Hospital of Philadelphia Philadelphia, PA; Department of Medical Ethics and Health Policy, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Division of Neonatology, Children's Hospital of Philadelphia Philadelphia, PA.
Genet Med. 2023 Mar;25(3):100357. doi: 10.1016/j.gim.2022.12.004. Epub 2022 Dec 13.
This study aimed to examine variation in genetic testing between neonatal intensive care units (NICUs) across hospitals over time.
We performed a multicenter large-scale retrospective cohort study using NICU discharge data from the Pediatric Hospital Information System database between 2016 and 2021. We analyzed the variation in the percentage of NICU patients who had any genetic testing across hospitals and over time. We used a multivariable multilevel logistic regression model to investigate the potential association between patient characteristics and genetic testing.
The final analysis included 207,228 neonates from 38 hospitals. Overall, 13% of patients had at least 1 genetic test sent, although this varied from 4% to 50% across hospitals. Over the study period, the proportion of patients tested increased, with the increase disproportionately borne by hospitals already testing high proportions of patients. On average, patients who received genetic testing had higher illness severity. Controlling for severity, however, only minimally reduced the degree of hospital-level variation in genetic testing.
The percentage of NICU patients who undergo genetic testing varies among hospitals and increasingly so over time. Variation is largely unexplained by differences in severity between hospitals. The degree of variation suggests that clearer guidelines for NICU genetic testing are warranted.
本研究旨在考察不同医院新生儿重症监护病房(NICU)随时间推移的基因检测差异。
我们使用儿科医院信息系统数据库中的 NICU 出院数据,进行了一项 2016 年至 2021 年期间的多中心大规模回顾性队列研究。我们分析了医院间和随时间推移的 NICU 患者接受任何基因检测的比例变化。我们使用多变量多层次逻辑回归模型来研究患者特征与基因检测之间的潜在关联。
最终分析包括来自 38 家医院的 207228 名新生儿。总体而言,有 13%的患者至少进行了 1 项基因检测,但医院间的比例差异从 4%到 50%不等。在研究期间,接受检测的患者比例有所增加,而已经检测了高比例患者的医院的增幅不成比例。平均而言,接受基因检测的患者病情严重程度更高。然而,控制严重程度后,仅略微降低了医院间基因检测的差异程度。
接受基因检测的 NICU 患者比例在医院间存在差异,且随时间推移差异越来越大。医院间严重程度的差异在很大程度上无法解释基因检测的差异。这种差异程度表明,需要为 NICU 基因检测制定更明确的指南。