Editor’s Note: Dr. Preston Klein (he/him) is a resident physician in child Neurology at the University of Virginia. He is interested in neonatal neurology and medical education. -Rachel Y. Moon, MD, Associate Editor, Digital Media, Pediatrics
The utility and feasibility of genetic testing continues to increase with recent advances in the field. Cost and length of time for testing to result have both decreased, allowing for increased utilization of genetic testing and quicker diagnosis.
The neonatal intensive care unit (NICU) is an area where patients could most benefit from these advances. Genetic testing in these patients has the potential to alter their medical management and lead to better outcomes and shorter hospital stays. Despite these promises, there remain few guidelines on genomic testing within the NICU.
Dr. Benjamin Helm and colleagues at Indiana University and Riley Hospital for Children sought to determine the effects of implementation of a standardized NICU genomic testing algorithm in an article being early released this week in Pediatrics (10.1542/peds.2024-069591). Riley Hospital implemented a NICU genetic evaluation guideline on May 1, 2022. This guideline created standard phenotypic criteria that would prompt a genetic consultation.
The authors completed a retrospective and prospective cohort study following implementation of the guidelines. Primary outcomes included proportion of patients qualifying for genetic services, rate of genetics consultation, utilization of genetic testing, and genetic diagnoses. Secondary outcomes were hospital charges and length of stay. The cohort included 2,169 patients, over a 19-month period.
The authors demonstrated that following implementation of the algorithm:
- Patients receiving genomic testing increased (from 9% to 24.5%).
- Genetic disorder detection increased (8.2% to 11.6%).
- Patients who received genomic testing had a decrease in length of stay (46 versus 24 days). Decrease in length of stay was seen regardless of whether the test was diagnostic or nondiagnostic for a genetic disorder.
- Rates of testing completed and genetic disorder detection were similar for white and Black infants who qualified for genetic testing by the algorithm.
- Collective hospital savings of approximately 75 million dollars.
When comparing effects between the level 3 NICU and the level 4 NICU or cardiovascular intensive care unit (CVICU), the level 4 NICU and CVICU each had over a 50% increase in genetic disease detection following implementation of the guidelines. There was no increase in detection within the level 3 NICU, likely because the majority of these patients were admitted for complications of prematurity or a transient neonatal disorder, so fewer of these patients had concern for an underlying genetic disorder.
This study highlights the importance of genetic testing within the NICU, with increases in genetic testing leading to both decreased length of stay and hospital charges. It also demonstrates the utility of a clinical guideline for genomic evaluation to ensure equitable utilization of services and increase detection of genetic disorders. As the understanding of genetic disorders continues to expand, the resulting positive outcomes of genetic testing in the NICU outlined above will likely become more pronounced and further increase the importance for development of standardized genomic evaluations.
