Perspectives of carriers of X-linked retinal diseases on genetic testing and gene therapy: A global survey.
X-linked
carrier
experience
females
genetics
inherited retinal disease
perspectives
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
20 Oct 2023
20 Oct 2023
Historique:
revised:
03
10
2023
received:
03
08
2023
accepted:
06
10
2023
medline:
20
10
2023
pubmed:
20
10
2023
entrez:
20
10
2023
Statut:
aheadofprint
Résumé
Female carriers of X-linked inherited retinal diseases (IRDs) are burdened with potentially passing their disease-causing variant to future generations, as well as exhibiting signs of retinal disease themselves. This study aimed to investigate carriers' experiences of genetic testing, emotions relating to having affected children, and their knowledge regarding genetic testing and gene therapy. An online survey was advertised to self-identified carriers worldwide. Two hundred and twenty-eight carriers completed the survey with mean age of 51 years (SD ± 15.0). A majority of respondents resided in the United States of America (51%), Australia (19%), and the United Kingdom (14%). Most carriers identified with feelings of guilt (70%), concern (91%), and anxiety (88%) for their child. Female carriers who had given birth to children had significantly greater gene therapy knowledge compared to carriers who had not (p < 0.05). Respondents agreed that their eyecare provider and general practitioner helped them understand their condition (63%), however, few carriers reported receiving psychological counselling (9%) or family planning advice (5%). Most respondents (78%) agreed that gene therapy should be available to carriers. This study emphasises the importance of providing appropriate counselling to female carriers and illustrates the motivation of many to participate in emerging treatment options, such as gene therapy.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Australian Government
Organisme : Choroideremia Research Foundation
Organisme : National Health and Medical Research Council
ID : GNT#1195713
Organisme : National Institute for Health and Care Research
Organisme : University of Melbourne
Organisme : University of Melbourne Driving Research Momentum Fellowship
Organisme : Centre for Eye Research Australia
Organisme : National Institute for Health and Social Care Fellowship
Informations de copyright
© 2023 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
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