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Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Special Edition #1 2022 List
Text
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Special Edition #1 2022 List
URL Address
<a href="http://doi.org/10.1002/jgc4.1353" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/jgc4.1353</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Rapid genome-wide sequencing in a neonatal intensive care unit: A retrospective qualitative exploration of parental experiences
Publisher
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Journal of Genetic Counseling
Date
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2020
Subject
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genetic counseling; lived experience; neonates; Decisional regret; genome-wide sequencing
Creator
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Aldridge CE; Osiovich H; Siden H; Elliott AM
Description
An account of the resource
Abstract Genome-wide sequencing (GWS) is increasingly being used in neonatal intensive care units. While studies have explored its clinical utility, little is known about parental experiences with this testing post-return of results. We conducted a qualitative study, using an interpretive description framework and thematic analysis, to gain further insight into parents’ perceptions of the value and utility of GWS for their infant. We sought to explore whether parents’ perceptions differ if their child received a diagnosis or not, and whether their child is living or deceased. Semi-structured, telephone interviews were conducted with parents of infants who had rapid exome sequencing while in the neonatal intensive care unit at BC Women's Hospital in Vancouver, Canada. Interviews addressed perceived benefits and harms of GWS and included an evaluation of decisional regret. Parents of 27 probands were approached and 14 (52%; 13 mothers and 1 father) participated in interviews. On average, 26 months had elapsed from the time of results to the interview. Six themes were identified. Firstly, parents had a positive regard for GWS. The results of GWS helped provide context for their child's admission to the NICU, and all parents experienced relief following receiving the results. A diagnosis by GWS enabled parents to picture the future, form connections with other parents, and coordinate their child's care. Lastly, some parents experienced discomfort with the concept of a genetic diagnosis, and interestingly felt lack of a genomic diagnosis indicated a reduced severity of their infant's condition. Decisional regret post-results was found to be low. Our results highlight how parents cope with the results of GWS and suggest that a genetic counselor can have an important role in helping families understand and adjust to these results in the neonatal intensive care unit.
Identifier
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<a href="http://doi.org/10.1002/jgc4.1353" target="_blank" rel="noreferrer noopener">10.1002/jgc4.1353</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2020
2022 Special Edition 1 - Parent Perspectives
Aldridge CE
Decisional regret
Elliott AM
Genetic Counseling
genome-wide sequencing
Journal of Genetic Counseling
lived experience
Neonates
Osiovich H
Siden H
-
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
December 2020 List
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
December 2020 List
URL Address
<a href="http://doi.org/10.1002/jgc4.1353" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/jgc4.1353</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Rapid genome-wide sequencing in a neonatal intensive care unit: A retrospective qualitative exploration of parental experiences
Publisher
An entity responsible for making the resource available
Journal of Genetic Counseling
Date
A point or period of time associated with an event in the lifecycle of the resource
2020
Subject
The topic of the resource
Decisional regret; genetic counseling; genome-wide sequencing; lived experience; neonates
Creator
An entity primarily responsible for making the resource
Aldridge CE; Osiovich H; Siden H; Elliott AM
Description
An account of the resource
Abstract Genome-wide sequencing (GWS) is increasingly being used in neonatal intensive care units. While studies have explored its clinical utility, little is known about parental experiences with this testing post-return of results. We conducted a qualitative study, using an interpretive description framework and thematic analysis, to gain further insight into parents’ perceptions of the value and utility of GWS for their infant. We sought to explore whether parents’ perceptions differ if their child received a diagnosis or not, and whether their child is living or deceased. Semi-structured, telephone interviews were conducted with parents of infants who had rapid exome sequencing while in the neonatal intensive care unit at BC Women's Hospital in Vancouver, Canada. Interviews addressed perceived benefits and harms of GWS and included an evaluation of decisional regret. Parents of 27 probands were approached and 14 (52%; 13 mothers and 1 father) participated in interviews. On average, 26 months had elapsed from the time of results to the interview. Six themes were identified. Firstly, parents had a positive regard for GWS. The results of GWS helped provide context for their child's admission to the NICU, and all parents experienced relief following receiving the results. A diagnosis by GWS enabled parents to picture the future, form connections with other parents, and coordinate their child's care. Lastly, some parents experienced discomfort with the concept of a genetic diagnosis, and interestingly felt lack of a genomic diagnosis indicated a reduced severity of their infant's condition. Decisional regret post-results was found to be low. Our results highlight how parents cope with the results of GWS and suggest that a genetic counselor can have an important role in helping families understand and adjust to these results in the neonatal intensive care unit.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/jgc4.1353" target="_blank" rel="noreferrer noopener">10.1002/jgc4.1353</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2020
Aldridge CE
December 2020 List
Decisional regret
Elliott AM
Genetic Counseling
genome-wide sequencing
Journal of Genetic Counseling
lived experience
Neonates
Osiovich H
Siden H