Genetic testing preferences and intentions in patients with clinically diagnosed familial hypercholesterolemia.
clinical diagnosis
decision-making
familial hypercholesterolemia
genetic counseling
genetic diagnosis
genetic testing
genetic testing intentions
genetic testing predictors
genetic testing utility
patient preference
public health
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:
12 2020
12 2020
Historique:
received:
17
04
2019
accepted:
04
11
2019
pubmed:
27
11
2019
medline:
24
4
2021
entrez:
27
11
2019
Statut:
ppublish
Résumé
Familial hypercholesterolemia (FH) is a common Mendelian disorder characterized by elevated LDL cholesterol levels, which if untreated can cause premature heart disease. Less than 10% of cases in the United States are diagnosed. This study investigates decision-making factors associated with intentions to have FH genetic testing among patients clinically diagnosed with FH. Fifty-three clinically diagnosed adults with FH and no genetic testing were recruited through the FH Foundation and lipid clinics. Participants completed a survey containing items capturing various reasons to engage in genetic testing. Exploratory factor analysis of survey items identified three factors: (a) aversion to FH genetic information, (b) curiosity regarding medical/family history, (c) and psychological reassurance. Psychological reassurance was, in turn, the only significant predictor of genetic testing intentions. The positive effect of reassurance on genetic testing intention was moderated by aversion such that individuals who were low in reassurance were more inclined to decline testing if aversion was high. Findings suggest that clinically diagnosed patients' decisions about FH genetic testing are driven principally by psychological reassurance, particularly when low in aversion to FH genetic information.
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
919-927Informations de copyright
© Published 2019. This article is a U.S. Government work and is in the public domain in the USA.
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