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- W2007215577 abstract "Abstract Purpose To present the genetic counselling needs of families with inherited eye disease and examine the ethical and emotional issues around genetic testing Methods The presentation will focus on the psychosocial impact of inherited eye disease and the dilemmas in counselling and testing using case discussions and data from qualitative studies. Results Genetic counselling is a process of communication to provide information about a genetic condition, inheritance and support decision making and adjustment in families. Genetic testing for inherited eye diseases is rapidly advancing with massive improvements in high throughput molecular testing. While this can allow accurate diagnosis and information, the issues of genetic heterogeneity, variable penetrance and overlapping phenotypes mean that the provision of accurate information particularly challenging for genetic eye disease. These scientific advances have also led to increased patient demand and expectations. Complex cases presenting to the multi‐disciplinary genetic eye clinic in Manchester will be presented to highlight the needs of families requesting genetic counselling including approaches to complex situations such as pre‐symptomatic testing, childhood testing and pre‐natal diagnosis. Qualitative data involving in‐depth interviews with families with inherited retinal dystrophy describes the burden of living with the risk of blindness and decision making around genetic tests. Research evidence also demonstrates that families feel their needs are not met by current services, suggesting a need for improvements in evidenced‐based practice. Conclusion Families with inherited eye disease have complex genetic counselling needs requiring multidisciplinary services to provide accurate diagnosis, information, genetic testing, decision‐making, support and follow‐up." @default.
- W2007215577 created "2016-06-24" @default.
- W2007215577 creator A5088502139 @default.
- W2007215577 date "2011-09-01" @default.
- W2007215577 modified "2023-09-26" @default.
- W2007215577 title "Principles of Genetic Counseling" @default.
- W2007215577 doi "https://doi.org/10.1111/j.1755-3768.2011.2321.x" @default.
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