在四级新生儿重症监护病房中检测和评估遗传疾病。
Detection and impact of genetic disease in a level IV neonatal intensive care unit.
机构信息
Deparment of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
出版信息
J Perinatol. 2022 May;42(5):580-588. doi: 10.1038/s41372-022-01338-0. Epub 2022 Feb 18.
OBJECTIVE
To determine detection rates of genetic disease in a level IV neonatal intensive care unit (NICU) and cost of care.
STUDY DESIGN
We divided 2703 neonates, admitted between 2013 and 2016 to a level IV NICU, into two epochs and determined how genetic testing utilization, genetic diagnoses identified, and cost of NICU care changed over time.
RESULT
The increasing use of multi-gene panels 104 vs 184 (P = 0.02) and whole exome sequencing (WES) 9 vs 28 (P = 0.03) improved detection of genetic disease, 9% vs 12% (P < 0.01). Individuals with genetic diagnoses had higher mean NICU charges, $723,422 vs $417,013 (P < 0.01) secondary to longer lengths of stay, not genetic services.
CONCLUSION
The increased utilization of broad genetic testing improved the detection of genetic disease but contributed minimally to the cost of care while bolstering understanding of the patient's condition and prognosis.
目的
确定四级新生儿重症监护病房（NICU）中遗传疾病的检出率和治疗成本。
研究设计
我们将 2013 年至 2016 年期间入住四级 NICU 的 2703 名新生儿分为两个时期，以确定遗传检测利用率、确定的遗传诊断以及 NICU 治疗成本随时间的变化。
结果
多基因面板检测的使用从 104 例增加到 184 例（P=0.02），全外显子组测序（WES）从 9 例增加到 28 例（P=0.03），遗传疾病的检出率从 9%提高到 12%（P<0.01）。有遗传诊断的个体的 NICU 费用更高，平均值为 723422 美元对 417013 美元（P<0.01），这主要是由于住院时间延长，而不是遗传服务导致的。
结论
广泛的遗传检测利用率的提高提高了遗传疾病的检出率，但对治疗成本的影响很小，同时增强了对患者病情和预后的了解。
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