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image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Acta Ophthalmologicaarrow_drop_down
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Acta Ophthalmologica
Article . 2011 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
image/svg+xml Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao Closed Access logo, derived from PLoS Open Access logo. This version with transparent background. http://commons.wikimedia.org/wiki/File:Closed_Access_logo_transparent.svg Jakob Voss, based on art designer at PLoS, modified by Wikipedia users Nina and Beao
Acta Ophthalmologica
Article . 2010 . Peer-reviewed
License: Wiley Online Library User Agreement
Data sources: Crossref
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Principles of Genetic Counseling

Authors: G Hall;

Principles of Genetic Counseling

Abstract

AbstractPurpose To present the genetic counselling needs of families with inherited eye disease and examine the ethical and emotional issues around genetic testingMethods 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.

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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Average
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