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author 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
Hughes, Trent
Williams, Heather
Laborde, Kelly
Neu, Matthew B.
Patrick-Esteve, Jessica
Hurst, Anna C. E.
Kirmse, Brian M.
Savich, Renate
Spedale, Steven B.
Knight, Sara J.
Barsh, Gregory S.
Korf, Bruce R.
Cooper, Gregory M.
Brothers, Kyle B.
author_facet 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
Hughes, Trent
Williams, Heather
Laborde, Kelly
Neu, Matthew B.
Patrick-Esteve, Jessica
Hurst, Anna C. E.
Kirmse, Brian M.
Savich, Renate
Spedale, Steven B.
Knight, Sara J.
Barsh, Gregory S.
Korf, Bruce R.
Cooper, Gregory M.
Brothers, Kyle B.
author_sort Lemke, Amy A.
collection PubMed
description 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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spelling pubmed-103820302023-07-29 Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit 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 Hughes, Trent Williams, Heather Laborde, Kelly Neu, Matthew B. Patrick-Esteve, Jessica Hurst, Anna C. E. Kirmse, Brian M. Savich, Renate Spedale, Steven B. Knight, Sara J. Barsh, Gregory S. Korf, Bruce R. Cooper, Gregory M. Brothers, Kyle B. J Pers Med Article 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. MDPI 2023-06-21 /pmc/articles/PMC10382030/ /pubmed/37511639 http://dx.doi.org/10.3390/jpm13071026 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
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
Hughes, Trent
Williams, Heather
Laborde, Kelly
Neu, Matthew B.
Patrick-Esteve, Jessica
Hurst, Anna C. E.
Kirmse, Brian M.
Savich, Renate
Spedale, Steven B.
Knight, Sara J.
Barsh, Gregory S.
Korf, Bruce R.
Cooper, Gregory M.
Brothers, Kyle B.
Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
title Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
title_full Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
title_fullStr Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
title_full_unstemmed Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
title_short Parents’ Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit
title_sort parents’ perspectives on the utility of genomic sequencing in the neonatal intensive care unit
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382030/
https://www.ncbi.nlm.nih.gov/pubmed/37511639
http://dx.doi.org/10.3390/jpm13071026
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