To delineate specific ways in which neonatologists integrate genetic information into their clinical decision making.

We employed chart-stimulated recall, in which neonatologists described how they used genetic tests in specific patient cases, as well as semi-structured questioning about genetic information.

Based on 28 interviews with neonatologists, we document 6 uses of genetic information: making a diagnosis, categorizing/stereotyping as “genetic,” informing prognosis, influencing treatment, informing goals of care, and supporting accountability. Both specific genetic diagnoses as well as a general categorization as “genetic” help neonatologists make sense of unusual clinical situations and calibrate their predictions about the future. Predictions, in turn, inform goals of care decisions, the timing of medical technology placement, and neonatologists' self-evaluations. Diagnoses rarely influence day-to-day treatment directly. Neonatologists assign great value to improved prognostication, but simultaneously feel a responsibility to ensure that genetic information is not applied in ways that are overly deterministic or reflect ableism.

Frameworks for measuring successes and failures of genetic information in the neonatal intensive care unit need to be aligned with the ways neonatologists use this information. Understanding neonatologists’ use creates opportunity to maximize benefit and reduce bias in applying this complex information.