A content analysis of parents' reflections on pathogenic and uncertain pediatric oncology germline sequencing results.
Cancer predisposition
Genetic testing
Hereditary cancer
Pediatric cancer
Psychosocial impact
Variant of uncertain significance
Journal
Familial cancer
ISSN: 1573-7292
Titre abrégé: Fam Cancer
Pays: Netherlands
ID NLM: 100898211
Informations de publication
Date de publication:
20 Sep 2024
20 Sep 2024
Historique:
received:
14
04
2024
accepted:
18
08
2024
medline:
21
9
2024
pubmed:
21
9
2024
entrez:
20
9
2024
Statut:
aheadofprint
Résumé
Germline genomic sequencing is increasingly integrated into pediatric cancer care, with pathogenic cancer-predisposing variants identified among 5-18% of affected children and variants of uncertain significance (VUS) in up to 70%. Given the potential medical implications for children and their families, parents' psychosocial responses to learning results are important to understand. Parents of children with cancer who learned their children's germline pathogenic or VUS results following paired tumor and germline genomic sequencing described their cognitive and affective responses to results in an open-ended write-in question after disclosure (M = 10 months post-disclosure; range = 1-28). Responses were coded and categorized using content analysis, then compared across results using chi-square and Fisher's exact test. Parents of children with pathogenic (n = 9), VUS (n = 52), and pathogenic plus VUS results (n = 9) described negative emotions, positive reactions, mixed emotions (i.e., positive and negative emotions), and neutral reactions. Negative emotions were described significantly more frequently with pathogenic results than VUS only (χ
Identifiants
pubmed: 39302531
doi: 10.1007/s10689-024-00417-9
pii: 10.1007/s10689-024-00417-9
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : American Cancer Society
ID : CSDG-22-102-01-CPSH
Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer Nature B.V.
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