Identifying characteristics associated with genetic testing in the NICU

Area of Science:

• Medical Genetics
• Neonatal Care
• Health Disparities Research

Background:

• Genetic testing is crucial in Neonatal Intensive Care Units (NICUs).
• Existing research indicates potential disparities in NICU care and genetic testing based on race and language.
• Understanding patient characteristics associated with genetic testing can identify at-risk infants and reveal disparities.

Purpose of the Study:

• To analyze characteristics of NICU admissions who underwent genetic testing.
• To identify factors influencing the ordering of general and specific genetic tests.
• To investigate potential disparities in genetic testing within the NICU population.

Main Methods:

• Utilized data from the Children's Hospital Neonatal Consortium database for NICU admissions in 2022.
• Performed statistical analysis to correlate patient characteristics with genetic testing orders.
• Examined differences in testing rates based on demographics, consults, and infant characteristics.

Main Results:

• Genetic testing was more frequently ordered with genetic consultations.
• Cytogenetic testing was associated with cardiology consults and Spanish-speaking patients.
• Molecular testing was more common in patients of Hispanic origin.
• Infants with genetic testing had a higher average number of specialty consults.
• Premature and low birthweight infants experienced delays in genetic testing.

Conclusions:

• No significant racial disparities in genetic testing were identified, possibly due to sample limitations.
• Observed differences in testing for Spanish-speaking and Hispanic patients warrant further investigation into factors like consenting practices.
• Identifying genetic testing needs in premature and low birthweight infants presents challenges.
• Continuous monitoring of genetic testing ordering practices is essential for this vulnerable population.