P2.G123: The lived experiences of parents whose infants receive diagnostic genetic testing in the Neonatal Intensive Care Unit: A qualitative interview study.

Background: Many rare genetic disorders manifest within the first 28 days of infant life and result in admission to the neonatal intensive care unit (NICU), where prior research suggests that parents may experience high levels of stress, trauma, and uncertainty. However, further in-depth research into outcomes for these infants and their families is lacking. We therefore investigated parent-reported outcomes for infants with suspected genetic disorders, with a particular focus on quality of life, psychosocial outcomes, and unmet needs within the current system of care.

Methods: We conducted a mixed-methods study utilizing an exploratory sequential approach, in which parents whose infants received genetic and/or metabolic evaluation in the NICU were enrolled for a quantitative analysis of parental values and multidimensional outcomes for the infants. In order to further explore the factors that drive parent-child resiliency post-NICU discharge, we subsequently performed a qualitative investigation in a subset of 20 families identified by purposive sampling. Iterative thematic analysis of interview transcripts was performed in an inductive approach informed by grounded theory.

Results: We identified 2 domains and 4 main themes: (1) Rare Disease as “Culture Shock,” (2) Parental Trauma & Stressors in Domain 1: genetic testing in the NICU, and (3) Family Resiliency and (4) Hospital System Recommendations in Domain 2: post-NICU genetic support needs. Analyzing these findings through the familial lived experiences, we found that the experiences of NICU parents can be understood and contextualized through observing parental stress at the individual, interpersonal, community, and public policy levels. Although early, rapid, and broad genomic testing was appreciated and alleviated some degree of parental stress, we found that the majority of parents whose infant remained undiagnosed even despite such testing reported decreasing interest in finding a diagnosis for their child over time, and instead began to adapt their expectations, form more practical goals, and find pride in their child’s medical and social resilience.

Conclusion: These data further enhance our understanding of outcomes of infants with rare disease post-NICU discharge and inform potential future interventions that may prevent or remedy adverse parental mental and psychosocial health outcomes. By applying these findings to the NICU setting, parental, neonatal, psychological, and social service providers may better meet the needs of families experiencing complex medical circumstances within the realm of genomic medicine. This research offers key insights to physicians working with neonatal patient populations and their families, especially in understanding the socio-emotional needs and lived experiences of parents.