TOP 76 - Perceptions of uncertainty: comparing perspectives from neonatologists and parents when considering genetic testing
Monday, April 27, 2026
8:00am - 10:00am ET
Publication Number: 4781.TOP 76
Carly Eiduson, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Jeanne Krick, Brooke Army Medical Center, San Antonio, TX, United States; Luis Rohena, Brooke Army Medical Center, San Antonio, TX, United States; Katharine P. Callahan, Children's Hospital of Philadelphia, Haddonfield, NJ, United States
Pediatric Resident Children's Hospital of Philadelphia Philadelphia, Pennsylvania, United States
Background: Uncertainty is omnipresent in the Neonatal Intensive Care Unit (NICU), arising from diagnostic ambiguity, unpredictable prognoses, and the limited efficacy of evidence for many interventions. In the NICU, neonates can present with nonspecific or complex clinical concerns that make reaching a definitive diagnosis or understanding prognosis difficult. Genetic testing has rapidly evolved and is frequently employed as a diagnostic and prognostic tool in the NICU. Yet, parent and clinician perception of uncertainty associated with genetic testing remains undertheorized. While uncertainty is typically assumed to be problematic in medical science, families may be more ambivalent or even welcoming of uncertainty that creates space for hope. Mismatches in perceptions of uncertainty can erode effective communication. Exploring perceptions about genetic testing, ripe with uncertainty from the explicit and scientific variants of uncertain significance to existential uncertainty about why a particular child is born ill, provide an opportunity to explore how both neonatologists and parents perceive and make sense of uncertainty. Such work will develop frameworks for understanding what types of uncertainty matter to parents and neonatologists, ultimately designing strategies for these two groups to collaboratively discuss and manage uncertainty. Objective: This study aims to characterize how diagnostic uncertainty shapes the experiences of parents and neonatologists during discussions of genetic testing in the NICU. Design/Methods: We will conduct a secondary analysis of interviews completed with 28 neonatologists and 43 parents of 36 neonates. Neonatologists and parents were identified over a two-week period as having offered or having been offered broad genetic testing in the NICU. The interviews with the clinicians and parents involved chart-stimulated recall and semi-structured questions related to the use of genetic information in the NICU and uncertainty.
Through qualitative analysis and reference to the tailored taxonomy of neonatal care, researchers will identify times where diagnostic uncertainty was mentioned by the parent or the neonatologist. Researchers will complete open coding on those excerpts to explore how uncertainty shapes the participants' experiences, actions, and perceptions. Based on these codes, a thematic analysis will be completed with a particular focus on how each group makes sense of uncertainty and how uncertainty functions in each group. Coding will be complete when thematic saturation is reached. This study is IRB approved.
