Exploring the Role of Genetic Testing in Decisions to Redirect Care in Critically Ill Infants.

Objective: Genetic disorders are a major determinant of morbidity and mortality within neonatal intensive care units (NICUs). Studies have found genetic testing in critically ill infants may lead to changes in clinical decisions such as pursuing end of life care. This study surveyed palliative care providers to explore the influence of genetic testing on decisions to redirect care in critically ill infants.

Methods: This study was conducted retrospectively on cases who were admitted to the Level IV NICU at Primary Children's Hospital, underwent redirection to end of life care, and whose death date was between 2019-2023. A review of the case's electronic medical record was performed to construct a clinical case summary. The clinical summary and questionnaire were sent to the case's palliative care provider.

Results: Fifty-six cases were included in this study and 73% had genetic testing completed. Our results suggest the information from genetic testing played a relatively minor role in the decision to redirect care for cases with negative or uncertain genetic testing and positive genetic testing results, although the influence appeared higher in the latter group.

Conclusion: Our results suggest the assumptions of several studies that genetic testing is responsible for changes in clinical management and cost savings, especially in cases of redirection of care may have been overestimated. Our results fill a critical gap in current literature and demonstrate the need for further investigation to clarify the direct role of genetic testing in clinical decisions in the NICU, especially related to redirection of care.