Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study.

Turbitt, E; Bourne, M; McEwen, A; Amor, DJ

Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study.

Turbitt, E

Bourne, M McEwen, A Amor, DJ

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Publisher:: WILEY
Publication Type:: Journal Article
Citation:: Dev Med Child Neurol, 2023
Issue Date:: 2023-12-18

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Field	Value	Language
dc.contributor.author	Turbitt, E https://orcid.org/0000-0002-6650-9702
dc.contributor.author	Bourne, M
dc.contributor.author	McEwen, A
dc.contributor.author	Amor, DJ
dc.date.accessioned	2024-01-25T05:36:02Z
dc.date.available	2023-11-20
dc.date.available	2024-01-25T05:36:02Z
dc.date.issued	2023-12-18
dc.identifier.citation	Dev Med Child Neurol, 2023
dc.identifier.issn	0012-1622
dc.identifier.issn	1469-8749
dc.identifier.uri	http://hdl.handle.net/10453/174949
dc.description.abstract	AIM: To investigate parents' preferences and motivations for receiving and discussing prognostic genetic test results. METHOD: We used a cross-sectional, interpretive description qualitative study design. We collected data through semi-structured interviews with Australian parents, which we analysed using reflexive thematic analysis. RESULTS: Parents (n = 32) had a child or children with a genetic neurodevelopmental condition, such as fragile X syndrome, DiGeorge (22q11.2 deletion) syndrome, or Angelman syndrome. Parents of mildly impacted or older children were tolerant to prognostic uncertainty. Parents found conversations about their child's prognosis emotional and preferred to discuss their child's potential strengths and challenges. While most were enthusiastic about prognostic tests and described many motivations for testing, the potential for prognostic information to contribute to a loss of hope and stigmatizing societal views were also discussed. INTERPRETATION: Parents had mixed preferences and motivations for acquiring prognostic genetic information about their child, contrasting evidence in other contexts such as cancer where parents typically have minimal tolerance of uncertainty. Health professionals should consider strength-based framing of prognostic information gained from current and emerging technologies when returning results to families.
dc.format	Print-Electronic
dc.language	eng
dc.publisher	WILEY
dc.relation.ispartof	Dev Med Child Neurol
dc.relation.isbasedon	10.1111/dmcn.15830
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	11 Medical and Health Sciences
dc.subject.classification	Pediatrics
dc.subject.classification	32 Biomedical and clinical sciences
dc.subject.classification	42 Health sciences
dc.subject.classification	52 Psychology
dc.title	Parents' preferences for receiving and discussing prognostic genetic information regarding their children's neurodevelopmental condition: A qualitative study.
dc.type	Journal Article
utslib.location.activity	England
utslib.for	11 Medical and Health Sciences
pubs.organisational-group	University of Technology Sydney
pubs.organisational-group	University of Technology Sydney/Faculty of Health
pubs.organisational-group	University of Technology Sydney/Faculty of Health/Graduate School of Health
pubs.organisational-group	University of Technology Sydney/Faculty of Health/Graduate School of Health/GSH.Genetic Counselling
utslib.copyright.status	open_access	*
dc.date.updated	2024-01-25T05:36:01Z
pubs.publication-status	Published online

Abstract:

AIM: To investigate parents' preferences and motivations for receiving and discussing prognostic genetic test results. METHOD: We used a cross-sectional, interpretive description qualitative study design. We collected data through semi-structured interviews with Australian parents, which we analysed using reflexive thematic analysis. RESULTS: Parents (n = 32) had a child or children with a genetic neurodevelopmental condition, such as fragile X syndrome, DiGeorge (22q11.2 deletion) syndrome, or Angelman syndrome. Parents of mildly impacted or older children were tolerant to prognostic uncertainty. Parents found conversations about their child's prognosis emotional and preferred to discuss their child's potential strengths and challenges. While most were enthusiastic about prognostic tests and described many motivations for testing, the potential for prognostic information to contribute to a loss of hope and stigmatizing societal views were also discussed. INTERPRETATION: Parents had mixed preferences and motivations for acquiring prognostic genetic information about their child, contrasting evidence in other contexts such as cancer where parents typically have minimal tolerance of uncertainty. Health professionals should consider strength-based framing of prognostic information gained from current and emerging technologies when returning results to families.

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http://hdl.handle.net/10453/174949