A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease.
Krabbe disease
communication
false positive
genetic counseling
newborn screening
parent perceptions
parents
Journal
Journal of genetic counseling
ISSN: 1573-3599
Titre abrégé: J Genet Couns
Pays: United States
ID NLM: 9206865
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
revised:
30
03
2021
received:
17
01
2021
accepted:
29
06
2021
pubmed:
16
7
2021
medline:
8
3
2022
entrez:
15
7
2021
Statut:
ppublish
Résumé
Numerous US states have implemented newborn screening for Krabbe disease (Krabbe NBS) as a result of legislative state mandates. While healthcare provider opinions toward Krabbe NBS have been documented, few studies have explored parental experiences and opinions regarding Krabbe NBS. Eleven families, who received a false-positive Krabbe NBS result and received genetic counseling at an institution in central Ohio, were consented to participate in semistructured interviews. Interviews explored parents' experiences throughout the NBS process and ascertained their opinions regarding Krabbe NBS. Three major themes emerged from thematic analysis: (1) improved understanding of the NBS process from a parent perspective, (2) the role of healthcare provider communication, and (3) the value of Krabbe NBS. Parents saw value in Krabbe NBS, despite many disclosing emotional distress and uncertainty throughout the NBS process. Parent experiences throughout the NBS process varied widely. Due to the expressed emotional distress, further research assessing effective communication during the NBS process is warranted. The researchers suggest additional NBS education for non-genetics healthcare providers (i.e., nurses or primary care physicians) and further participation of genetic counselors in the NBS process may benefit families with a positive Krabbe NBS result.
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
252-260Informations de copyright
© 2021 National Society of Genetic Counselors.
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