Genetic Testing and Challenges in a Level IV Midwestern NICU: Who, What, When, and Then?

Area of Science:

• Genetics
• Neonatal Medicine
• Clinical Diagnostics

Background:

• Genetic testing is increasingly utilized in neonatal intensive care units (NICUs).
• Understanding the impact of genetic testing on clinical decision-making and prognostic clarity is crucial.

Purpose of the Study:

• To evaluate genetic testing strategies in the NICU.
• To assess the influence of genetic testing on care redirection and prognostic uncertainty.

Main Methods:

• Retrospective cohort study.
• Analysis of data from 2020-2021.
• Review of genetic testing utilization and outcomes in NICU infants.

Main Results:

• 17% of NICU infants (133/774) underwent genetic testing, primarily whole exome sequencing.
• A genetic diagnosis was reached in 33% of tested infants.
• Care redirection decisions were linked to critical illness severity, not genetic diagnosis.
• Many diagnoses showed variable phenotypic presentations, complicating interpretation.

Conclusions:

• Genetic testing provides unifying diagnoses for many NICU patients but often with variable clinical implications.
• Clinical illness severity is a stronger determinant of care redirection than genetic diagnosis.
• Interpreting genetic results and managing uncertainty remain key challenges for clinicians and families.