ArticleEuropean journal of human genetics : EJHG2013
Understanding the impact of genetic testing for inherited retinal dystrophy.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed.
- Genetic testing and reproductive decision-making in Chinese families with inherited retinal disease: a cross-sectional study.Frontiers in medicine · 2026Article
- Stargardt's Connected Research Network Inaugural Meeting: Landscape Review and Horizon Scanning of Stargardt Disease.Translational vision science & technology · 2025Review
- Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.Scientific reports · 2024Article
- Physicians' use and perceptions of genetic testing for rare diseases in China: a nationwide cross-sectional study.Orphanet journal of rare diseases · 2023Article
- Validation and comparison of five preference-based measures among age-related macular degeneration patients: evidence from mainland China.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2022Article
- Access to genetic testing for rare diseases: Existing gaps in public-facing information.World medical & health policy · 2021Article
- The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies.Journal of community genetics · 2019Article
- Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families.Molecular vision · 2019Article
- Article
- The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.Journal of genetic counseling · 2017Article
- Exploring the feasibility of delivering standardized genomic care using ophthalmology as an example.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Diagnostic exome sequencing in 266 Dutch patients with visual impairment.European journal of human genetics : EJHG · 2017Article
- Identifying variation in models of care for the genomic-based diagnosis of inherited retinal dystrophies in the United Kingdom.Eye (London, England) · 2016Article
- Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS.Journal of community genetics · 2015Article
- Patient expectations and attitudes towards specialist genetic eye services.Journal of genetic counseling · 2015Article
- Willingness to pay for genetic testing for inherited retinal disease.European journal of human genetics : EJHG · 2015Article
- Current understanding of genetics and genetic testing and information needs and preferences of adults with inherited retinal disease.European journal of human genetics : EJHG · 2014Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
The capability of genetic technologies is expanding rapidly in the field of inherited eye disease. New genetic testing approaches will deliver a step change in the ability to diagnose and extend the possibility of targeted treatments. However, evidence is lacking about the benefits of genetic testing to support service planning. Here, we report qualitative data about retinal dystrophy families' experiences of genetic testing in United Kingdom. The data were part of a wider study examining genetic eye service provision. Twenty interviewees from families in which a causative mutation had been identified by a genetic eye clinic were recruited to the study. Fourteen interviewees had chosen to have a genetic test and five had not; one was uncertain. In-depth telephone interviews were conducted allowing a thorough exploration of interviewees' views and experiences of the benefits of genetic counselling and testing. Transcripts were analysed using thematic analysis. Both affected and unaffected interviewees expressed mainly positive views about genetic testing, highlighting benefits such as diagnostic confirmation, risk information, and better preparation for the future. Negative consequences included the burden of knowledge, moral dilemmas around reproduction, and potential impact on insurance. The offer of genetic testing was often taken up, but was felt unnecessary in some cases. Interviewees in the study reported many benefits, suggesting genetic testing should be available to this patient group. The benefits and risks identified will inform future evaluation of models of service delivery. This research was part of a wider study exploring experiences of families with retinal dystrophy.
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Registered trials
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