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Published on: April 4, 2018
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
Amy A Lemke1, Michelle L Thompson2, Emily C Gimpel1
1Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA.
Insights
Genome sequencing (GS) in the NICU helps parents make reproductive decisions and plan future care for their infants. Most parents found GS results acceptable and did not report negative impacts on bonding.
Area of Science:
- Genomics
- Neonatal Intensive Care Unit (NICU)
- Pediatric Medicine
Background:
- Understanding the effects of genome sequencing (GS) on parents in the NICU is crucial.
- GS is increasingly used as a first-line diagnostic tool for infants with suspected genetic conditions.
Purpose of the Study:
- To assess parents' experiences with genome sequencing (GS) for infants in the NICU.
- To evaluate the clinical and non-clinical effects of GS on parents during the neonatal period.
Main Methods:
- Recruited 62 parents of newborns with suspected genetic conditions across five US hospitals.
- Conducted 78 semi-structured interviews after parents received their child's sequencing results.
- Performed thematic analysis on interview data to identify key experiences and perceptions.
Main Results:
- GS in infancy aids reproductive decision-making, future care planning, and diagnostic resolution.
- Most parents found the timing of GS results acceptable, though the NICU environment was often overwhelming.
- Parents reported no negative impact on infant bonding and variable effects on guilt.
Conclusions:
- Genome sequencing in the neonatal period provides a crucial foundation for infant care.
- Parents generally did not report adverse effects on parent-infant bonding due to neonatal GS.
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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