Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

Amy A Lemke¹, Michelle L Thompson², Emily C Gimpel¹, Katelyn C McNamara¹, Carla A Rich¹, Candice R Finnila², Meagan E Cochran², James M J Lawlor², Kelly M East², Kevin M Bowling³, Donald R Latner², Susan M Hiatt², Michelle D Amaral², Whitley V Kelley², Veronica Greve², David E Gray², Stephanie A Felker^{2

4}, Hannah Meddaugh⁵, Ashley Cannon⁶, Amanda Luedecke⁶, Kelly E Jackson⁷, Laura G Hendon⁸, Hillary M Janani⁹, Marla Johnston¹⁰, Lee Ann Merin¹¹, Sarah L Deans¹, Carly Tuura⁸, Trent Hughes⁸, Heather Williams⁸, Kelly Laborde⁹, Matthew B Neu^{2

6}, Jessica Patrick-Esteve¹⁰, Anna C E Hurst⁶, Brian M Kirmse⁸, Renate Savich¹², Steven B Spedale⁹, Sara J Knight¹³, Gregory S Barsh², Bruce R Korf⁶, Gregory M Cooper², Kyle B Brothers¹

Affiliations

¹ Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA.
² HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
³ Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
⁴ Department of Biological Sciences, University of Alabama in Huntsville, Huntsville, AL 35899, USA.
⁵ Department of Genetics, Ochsner Health System, New Orleans, LA 70121, USA.
⁶ Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
⁷ Division of Genetics, Norton Children's Genetics Center, University of Louisville School of Medicine, Louisville, KY 40202, USA.
⁸ Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
⁹ Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA 70817, USA.
¹⁰ Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA 70118, USA.
¹¹ Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
¹² Pediatrics Neonatology Division, University of New Mexico Health Sciences Center, Albuquerque, NM 87106, USA.
¹³ Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112, USA.

PMID: 37511639
PMCID: PMC10382030
DOI: 10.3390/jpm13071026

Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

Amy A Lemke et al. J Pers Med. 2023.

. 2023 Jun 21;13(7):1026.

doi: 10.3390/jpm13071026.

Authors

Affiliations

¹ Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA.
² HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
³ Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA.
⁴ Department of Biological Sciences, University of Alabama in Huntsville, Huntsville, AL 35899, USA.
⁵ Department of Genetics, Ochsner Health System, New Orleans, LA 70121, USA.
⁶ Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
⁷ Division of Genetics, Norton Children's Genetics Center, University of Louisville School of Medicine, Louisville, KY 40202, USA.
⁸ Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA.
⁹ Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA 70817, USA.
¹⁰ Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA 70118, USA.
¹¹ Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
¹² Pediatrics Neonatology Division, University of New Mexico Health Sciences Center, Albuquerque, NM 87106, USA.
¹³ Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112, USA.

PMID: 37511639
PMCID: PMC10382030
DOI: 10.3390/jpm13071026

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.

Keywords: genome sequencing; parental guilt; parent–infant bonding; timing of disclosure of results; utility.

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Conflict of interest statement

The authors declare that they have no competing interest.

References

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Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

Affiliations

Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit

Authors

Affiliations

Abstract

Conflict of interest statement

References

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