Authors

Amy A. Lemke, University of Louisville Health Sciences Center
Michelle L. Thompson, HudsonAlpha Institute for Biotechnology
Emily C. Gimpel, University of Louisville Health Sciences Center
Katelyn C. McNamara, University of Louisville Health Sciences Center
Carla A. Rich, University of Louisville Health Sciences Center
Candice R. Finnila, HudsonAlpha Institute for Biotechnology
Meagan E. Cochran, HudsonAlpha Institute for Biotechnology
James M.J. Lawlor, HudsonAlpha Institute for Biotechnology
Kelly M. East, HudsonAlpha Institute for Biotechnology
Kevin M. Bowling, Washington University School of Medicine in St. Louis
Donald R. Latner, HudsonAlpha Institute for Biotechnology
Susan M. Hiatt, HudsonAlpha Institute for Biotechnology
Michelle D. Amaral, HudsonAlpha Institute for Biotechnology
Whitley V. Kelley, HudsonAlpha Institute for Biotechnology
Veronica Greve, HudsonAlpha Institute for Biotechnology
David E. Gray, HudsonAlpha Institute for Biotechnology
Stephanie A. Felker, HudsonAlpha Institute for Biotechnology
Hannah Meddaugh, Ochsner Health
Ashley Cannon, Department of Genetics
Amanda Luedecke, Department of Genetics
Kelly E. Jackson, University of Louisville Health Sciences Center
Laura G. Hendon, University of Mississippi Medical Center
Hillary M. Janani, Woman's Hospital
Marla Johnston, LSU Health Sciences Center - New OrleansFollow
Lee Ann Merin, The University of Alabama at Birmingham
Sarah L. Deans, University of Louisville Health Sciences Center
Carly Tuura, University of Mississippi Medical Center
Trent Hughes, University of Mississippi Medical Center

Document Type

Article

Publication Date

6-21-2023

Publication Title

Journal of Personalized Medicine

Abstract

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.

PubMed ID

37511639

Volume

13

Issue

7

Creative Commons License

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

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