Evaluating parental satisfaction and empowerment with genetic testing in the Neonatal Intensive Care Unit (NICU)

Genetic disorders are highly represented in the neonatal intensive care unit (NICU). Genetic testing (in particular rapid genome-wide sequencing) has transformed the ability to diagnose and manage these infants. The NICU is a place of stress and overwhelm for parents and implementing genetic testing can pose additional challenges, including anxiety. There is a critical gap in knowledge related to parents' empowerment and satisfaction with the NICU experience for those undergoing genetic testing. The goal of this mixed-methods study was to identify the key contributing factors related to empowerment and areas for improvement in care of parents undergoing genetic testing in the NICU by using validated tools that have not been previously implemented in Canada. A demographic survey and validated online survey tools were distributed to eligible parents. Descriptive statistics and linear regression analysis were performed. We conducted semi-structured interviews to gain insight into the genetic testing experience. The transcribed interviews were analyzed using an interpretive description framework and thematic analysis. A total of 31 surveys and 17 interviews were completed. We have identified self-reported demographic predictors of decreased satisfaction and empowerment for parents, including high income, English-speaking, ethnicity, sex of the parent, prematurity of the newborn, and length of hospital stay. Emerging themes from interviews fall under the broad category of communication and include information, logistics, parental perspective, and support. Subthemes include expectations and delivery of information, attention to timing and organization, comprehensive support, and parental distress and expectations when ordering genetic testing. The findings suggest the need for systematic improvement of the current genetic testing process in NICUs.

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Publication Details

Journal
European Journal of Medical Genetics
Published
2025-04-07
DOI
https://doi.org/10.1016/j.ejmg.2025.105014
Primary Topic
Infant Development and Preterm Care
Type
article
Field-Weighted Citation Impact
0.00

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article

Evaluating parental satisfaction and empowerment with genetic testing in the Neonatal Intensive Care Unit (NICU)

Horacio Osiovich, Sylvie Langlois, S.J. Kim, Ye Shen et al.
European Journal of Medical Genetics
Infant Development and Preterm Care
article

Evaluating parental satisfaction and empowerment with genetic testing in the Neonatal Intensive Care Unit (NICU)

Horacio Osiovich, Sylvie Langlois, S.J. Kim, Ye Shen, Alice Virani, Alison M. Elliott
article en

Abstract

Genetic disorders are highly represented in the neonatal intensive care unit (NICU). Genetic testing (in particular rapid genome-wide sequencing) has transformed the ability to diagnose and manage these infants. The NICU is a place of stress and overwhelm for parents and implementing genetic testing can pose additional challenges, including anxiety. There is a critical gap in knowledge related to parents' empowerment and satisfaction with the NICU experience for those undergoing genetic testing. The goal of this mixed-methods study was to identify the key contributing factors related to empowerment and areas for improvement in care of parents undergoing genetic testing in the NICU by using validated tools that have not been previously implemented in Canada. A demographic survey and validated online survey tools were distributed to eligible parents. Descriptive statistics and linear regression analysis were performed. We conducted semi-structured interviews to gain insight into the genetic testing experience. The transcribed interviews were analyzed using an interpretive description framework and thematic analysis. A total of 31 surveys and 17 interviews were completed. We have identified self-reported demographic predictors of decreased satisfaction and empowerment for parents, including high income, English-speaking, ethnicity, sex of the parent, prematurity of the newborn, and length of hospital stay. Emerging themes from interviews fall under the broad category of communication and include information, logistics, parental perspective, and support. Subthemes include expectations and delivery of information, attention to timing and organization, comprehensive support, and parental distress and expectations when ordering genetic testing. The findings suggest the need for systematic improvement of the current genetic testing process in NICUs.

European Journal of Medical GeneticsVol. 75
University of British Columbia (CA), Provincial Health Services Authority (CA), BC Children's Hospital (CA)
University of British Columbia, Canadian Institutes of Health Research
Gender equality
Openalex Percentile: Top 91%
Infant Development and Preterm Care
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