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Parental experience of whole genome sequencing for children with sensorineural hearing loss

Elander, Johanna LU orcid ; Värendh, Maria LU ; Ehinger, Johannes K. LU orcid ; Stenfeldt, Karin LU orcid and Widén, Stephen (2026) In International Journal of Qualitative Studies on Health and Well-being 21(1).
Abstract

Purpose: The purpose of this in-depth interview study was to explore how parents of children with sensorineural hearing loss (SNHL) experienced genetic testing and whether they experienced risks and benefits. Background: Most children with SNHL have a genetic etiology, which can be identified through genetic sequencing. A genetic test does not influence treatment, and whether patients and parents perceived genetic tests as valuable is unclear. Methods: In this study, 10 parents of children with SNHL who underwent genetic testing were interviewed, and the content was analyzed using inductive thematic analysis. Results: Three global themes were identified. In the first theme, (1) Limited knowledge creates uncertainty, parents described... (More)

Purpose: The purpose of this in-depth interview study was to explore how parents of children with sensorineural hearing loss (SNHL) experienced genetic testing and whether they experienced risks and benefits. Background: Most children with SNHL have a genetic etiology, which can be identified through genetic sequencing. A genetic test does not influence treatment, and whether patients and parents perceived genetic tests as valuable is unclear. Methods: In this study, 10 parents of children with SNHL who underwent genetic testing were interviewed, and the content was analyzed using inductive thematic analysis. Results: Three global themes were identified. In the first theme, (1) Limited knowledge creates uncertainty, parents described uncertainty related to the information provided, the test result itself and child-related factors. The second theme, (2) Genetic knowledge is considered important for the family and the future, explored the importance of knowledge. Parents wanted an explanation to make the future predictable, and the test had practical implications. In the last category, (3) Knowledge adds complexity and can be challenging, ethical considerations and risks associated with knowledge were highlighted. Conclusion: The main conclusion was that parents experienced that genetic testing provided valuable personal information and had practical implications. However, a genetic diagnosis can cause concern and may affect family planning.

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author
; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
genetic sequencing, interview study, parental experiences, Sensorineural hearing loss, thematic analysis
in
International Journal of Qualitative Studies on Health and Well-being
volume
21
issue
1
article number
2641802
publisher
Taylor & Francis
external identifiers
  • scopus:105032675314
  • pmid:41820818
ISSN
1748-2623
DOI
10.1080/17482631.2026.2641802
language
English
LU publication?
yes
additional info
Publisher Copyright: © 2026 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.
id
74fb944d-9960-45f3-8541-d6c1e9dda595
date added to LUP
2026-05-11 15:06:49
date last changed
2026-06-08 17:00:09
@article{74fb944d-9960-45f3-8541-d6c1e9dda595,
  abstract     = {{<p>Purpose: The purpose of this in-depth interview study was to explore how parents of children with sensorineural hearing loss (SNHL) experienced genetic testing and whether they experienced risks and benefits. Background: Most children with SNHL have a genetic etiology, which can be identified through genetic sequencing. A genetic test does not influence treatment, and whether patients and parents perceived genetic tests as valuable is unclear. Methods: In this study, 10 parents of children with SNHL who underwent genetic testing were interviewed, and the content was analyzed using inductive thematic analysis. Results: Three global themes were identified. In the first theme, (1) Limited knowledge creates uncertainty, parents described uncertainty related to the information provided, the test result itself and child-related factors. The second theme, (2) Genetic knowledge is considered important for the family and the future, explored the importance of knowledge. Parents wanted an explanation to make the future predictable, and the test had practical implications. In the last category, (3) Knowledge adds complexity and can be challenging, ethical considerations and risks associated with knowledge were highlighted. Conclusion: The main conclusion was that parents experienced that genetic testing provided valuable personal information and had practical implications. However, a genetic diagnosis can cause concern and may affect family planning.</p>}},
  author       = {{Elander, Johanna and Värendh, Maria and Ehinger, Johannes K. and Stenfeldt, Karin and Widén, Stephen}},
  issn         = {{1748-2623}},
  keywords     = {{genetic sequencing; interview study; parental experiences; Sensorineural hearing loss; thematic analysis}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{Taylor & Francis}},
  series       = {{International Journal of Qualitative Studies on Health and Well-being}},
  title        = {{Parental experience of whole genome sequencing for children with sensorineural hearing loss}},
  url          = {{http://dx.doi.org/10.1080/17482631.2026.2641802}},
  doi          = {{10.1080/17482631.2026.2641802}},
  volume       = {{21}},
  year         = {{2026}},
}