Identifying characteristics associated with genetic testing in the NICU.

IF 1.5 Q4 GENETICS & HEREDITY
Madison Rumsey, Sabrina Malone-Jenkins, Rachel Palmquist, Michael P Torre, Mallory R Sdano, Amy Baca, Con Yee Ling, Laila Andoni
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Abstract

Genetic testing is an integral part of Neonatal Intensive Care Unit (NICU) care. There are reported disparities in both NICU care and genetic testing related to race and language spoken. Identifying characteristics associated with genetic testing in NICUs could help detect patients who may benefit from genetic testing, as well as any current disparities. We sought to analyze characteristics of NICU admits who had genetic testing in general and specific test categories. Characteristics were requested from the Children's Hospital Neonatal Consortium database for patients admitted to Primary Children's Hospital's NICU in 2022. Statistical analysis was performed to determine if characteristics were more likely to result in genetic testing and if differences between those with genetic testing and those without were significant. All genetic test types were more likely ordered with genetic consultations. Cytogenetic testing was more likely in patients with a cardiology consult or who were Spanish-speaking. Patients who were of Hispanic origin were more likely to have molecular testing ordered. The average number of specialty consults for a patient was higher for those with genetic testing. Premature and low birthweight infants had longer time to genetic test ordering. No disparities were identified, which could be due to a small, homogenous sample. The differences with Spanish-speaking patients and those with mothers of Hispanic origin could be due to many factors, including consenting practices. It may be difficult to identify infants who might need genetic testing when they are low birthweight and/or premature. It is important to continue monitoring for differences in ordering practice for this vulnerable population.

识别与新生儿重症监护室基因检测相关的特征。
基因检测是新生儿重症监护病房(NICU)护理的一个组成部分。据报道,新生儿重症监护室的护理和基因检测与种族和语言有关。识别与新生儿重症监护病房基因检测相关的特征可以帮助发现可能从基因检测中受益的患者,以及当前的任何差异。我们试图分析在一般和特定测试类别中进行基因检测的新生儿重症监护病房住院患者的特征。从儿童医院新生儿联盟数据库中获取2022年初级儿童医院NICU收治患者的特征。进行统计分析,以确定特征是否更有可能导致基因检测,以及进行基因检测和未进行基因检测的人之间的差异是否显著。所有基因检测类型都更有可能与遗传咨询一起订购。接受过心脏病学咨询或说西班牙语的患者更可能进行细胞遗传学检测。西班牙裔患者更有可能进行分子检测。接受基因检测的患者接受专业咨询的平均次数更高。早产儿和低出生体重儿的基因检测排序时间较长。没有发现差异,这可能是由于样本小,同质性。说西班牙语的患者和母亲是西班牙裔的患者之间的差异可能是由于许多因素造成的,包括同意的做法。当婴儿出生体重过低和/或早产时,可能很难确定他们是否需要进行基因检测。重要的是继续监测这一弱势群体订购做法的差异。
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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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