Journal of Personalized Medicine
Background: It is critical to understand the wide-ranging clinical and non-clinical effects of genome sequencing (GS) for parents in the NICU context. We assessed parents’ experiences with GS as a first-line diagnostic tool for infants with suspected genetic conditions in the NICU. Methods: Parents of newborns (N = 62) suspected of having a genetic condition were recruited across five hospitals in the southeast United States as part of the SouthSeq study. Semi-structured interviews (N = 78) were conducted after parents received their child’s sequencing result (positive, negative, or variants of unknown significance). Thematic analysis was performed on all interviews. Results: Key themes included that (1) GS in infancy is important for reproductive decision making, preparing for the child’s future care, ending the diagnostic odyssey, and sharing results with care providers; (2) the timing of disclosure was acceptable for most parents, although many reported the NICU environment was overwhelming; and (3) parents deny that receiving GS results during infancy exacerbated parent–infant bonding, and reported variable impact on their feelings of guilt. Conclusion: Parents reported that GS during the neonatal period was useful because it provided a “backbone” for their child’s care. Parents did not consistently endorse negative impacts like interference with parent–infant bonding.
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Lemke, Amy A.; Thompson, Michelle L.; Gimpel, Emily C.; McNamara, Katelyn C.; Rich, Carla A.; Finnila, Candice R.; Cochran, Meagan E.; Lawlor, James M.J.; East, Kelly M.; Bowling, Kevin M.; Latner, Donald R.; Hiatt, Susan M.; Amaral, Michelle D.; Kelley, Whitley V.; Greve, Veronica; Gray, David E.; Felker, Stephanie A.; Meddaugh, Hannah; Cannon, Ashley; Luedecke, Amanda; Jackson, Kelly E.; Hendon, Laura G.; Janani, Hillary M.; Johnston, Marla; Merin, Lee Ann; Deans, Sarah L.; Tuura, Carly; and Hughes, Trent, "Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit" (2023). School of Medicine Faculty Publications. 1380.