Short Communication: Lived experience perspectives on genetic testing for a rare eye disease.

IF 1.5 Q4 GENETICS & HEREDITY Journal of Community Genetics Pub Date : 2024-02-01 Epub Date: 2023-10-03 DOI:10.1007/s12687-023-00677-5
Mallorie T Tam, Alonso Daboub, Hayami Lou, Julie M Robillard
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Abstract

This qualitative study explored the motivators and barriers for genetic testing for individuals with aniridia. Semi-structured interviews were conducted with 8 participants. The main findings highlighted the complex and interrelated factors involved in the decision-making process, including family planning, learning about the specific pathogenic variant of the disease and having access to genetic testing. Benefits and potential risks of genetic testing for aniridia were also discussed. For participants, gaining knowledge about their condition was perceived as a benefit, while administrative issues and concerns around privacy were identified as risks. Increased access to quality information about genetic testing and to the service and associated resources are needed to better support people living with aniridia.

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简短交流:一种罕见眼病基因检测的生活经验视角。
这项定性研究探讨了无虹膜症患者进行基因检测的动机和障碍。对8名参与者进行了半结构化访谈。主要研究结果强调了决策过程中涉及的复杂和相互关联的因素,包括计划生育、了解疾病的特定致病变种以及获得基因检测。还讨论了无虹膜基因检测的益处和潜在风险。对参与者来说,了解自己的病情被认为是一种好处,而行政问题和对隐私的担忧被认为是风险。需要更多地获得有关基因检测的高质量信息、服务和相关资源,以更好地支持无虹膜患者。
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来源期刊
Journal of Community Genetics
Journal of Community Genetics GENETICS & HEREDITY-
CiteScore
3.30
自引率
5.30%
发文量
54
期刊介绍: The Journal of Community Genetics is an international forum for research in the ever-expanding field of community genetics, the art and science of applying medical genetics to human communities for the benefit of their individuals. Community genetics comprises all activities which identify persons at increased genetic risk and has an interest in assessing this risk, in order to enable those at risk to make informed decisions. Community genetics services thus encompass such activities as genetic screening, registration of genetic conditions in the population, routine preconceptional and prenatal genetic consultations, public education on genetic issues, and public debate on related ethical issues. The Journal of Community Genetics has a multidisciplinary scope. It covers medical genetics, epidemiology, genetics in primary care, public health aspects of genetics, and ethical, legal, social and economic issues. Its intention is to serve as a forum for community genetics worldwide, with a focus on low- and middle-income countries. The journal features original research papers, reviews, short communications, program reports, news, and correspondence. Program reports describe illustrative projects in the field of community genetics, e.g., design and progress of an educational program or the protocol and achievement of a gene bank. Case reports describing individual patients are not accepted.
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