ArticleThe British journal of ophthalmology2013
Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.
Article in The British journal of ophthalmology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 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
- Socioeconomic and clinical factors associated with genetic testing completion in Stargardt disease.Genetics in medicine open · 2026Article
- Considering Clinical Implementation of Polygenic Scores in Hereditary Cancer Risk Assessment: Recipients' Perspectives on Influencing Factors and Strategies.The patient · 2025Article
- Inherited retinal disease pathway in the UK: a patient perspective and the potential of AI.The British journal of ophthalmology · 2025Article
- Australian research priorities for inherited retinal diseases: a James Lind Alliance priority setting partnership.BMJ open · 2025Article
- Experiences across a genetic screening and testing programme pathway: a qualitative study of mammogram patient perspectives.BMJ open · 2024Article
- Impacts of X-linked Retinitis Pigmentosa and Patient Pathways in European Countries: Results from the Cross-sectional EXPLORE XLRP-1 Physician Survey.Advances in therapy · 2024Article
- Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.Scientific reports · 2024Article
- Nigerian parents' perspectives on genetic testing in their children with genetic eye diseases.Journal of community genetics · 2023Article
- A qualitative interview study of the attitudes toward reproductive options of people with genetic visual loss.Journal of genetic counseling · 2022Article
- Measurement Properties of the Attitudes to Gene Therapy for the Eye (AGT-Eye) Instrument for People With Inherited Retinal Diseases.Translational vision science & technology · 2022Article
- Preimplantation genetic diagnosis for retinoblastoma survivors: a cost-effectiveness study.Reproductive biomedicine & society online · 2020Article
- Genomic testing is best integrated into clinical practice when it is actionable.Personalized medicine · 2020Article
- The psychosocial and service delivery impact of genomic testing for inherited retinal dystrophies.Journal of community genetics · 2019Article
- Patient expectations and attitudes towards specialist genetic eye services.Journal of genetic counseling · 2015Article
- 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
- Willingness to pay for genetic testing for inherited retinal disease.European journal of human genetics : EJHG · 2015Article
- Genetic knowledge and attitudes of parents of children with congenital heart defects.American journal of medical genetics. Part A · 2014Article
- 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
- Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.PloS one · 2014Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
BACKGROUND/
aimsThe views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing.
methodsTelephone questionnaires comprising quantitative and qualitative items were completed with adults with inherited retinal disease. Participants were recruited via postal invitation (response rate 48%), approach at clinic or newsletters of relevant charitable organisations.
resultsQuestionnaires were completed with 200 participants. Responses indicated that participants' perceived understanding of genetic testing for inherited retinal disease was variable. The majority (90%) considered testing to be good/very good and would be likely to undergo genetic testing (90%) if offered. Most supported the provision of diagnostic (97%) and predictive (92%) testing, but support was less strong for testing as part of reproductive planning. Most (87%) agreed with the statement that testing should be offered only after the individual has received genetic counselling from a professional. Subgroup analyses revealed differences associated with participant age, gender, education level and ethnicity (p<0.02). Participants reported a range of perceived benefits (eg, family planning, access to treatment) and risks (eg, impact upon family relationships, emotional consequences).
conclusionsAdults with inherited retinal disease strongly support the provision of publicly funded genetic testing. Support was stronger for diagnostic and predictive testing than for testing as part of reproductive planning.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.