Madison Rumsey, Sabrina Malone-Jenkins, Rachel Palmquist, Michael P Torre, Mallory R Sdano, Amy Baca, Con Yee Ling, Laila Andoni
{"title":"Identifying characteristics associated with genetic testing in the NICU.","authors":"Madison Rumsey, Sabrina Malone-Jenkins, Rachel Palmquist, Michael P Torre, Mallory R Sdano, Amy Baca, Con Yee Ling, Laila Andoni","doi":"10.1007/s12687-025-00780-9","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5000,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Community Genetics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12687-025-00780-9","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
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.
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.