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Journal article

Pre-symptomatic genetic testing for inherited cardiac conditions: A qualitative exploration of psychosocial and ethical implications

Abstract:

Inherited cardiac conditions (ICCs) can lead to sudden cardiac death at any age, yet are often asymptomatic and clinically undetected. Prophylactic interventions are available and cascade testing is recommended to identify family members at risk. When a disease-causing mutation has been identified in a family, pre-symptomatic genetic testing (PSGT) is available. This study explores perceptions of the cascade process, impact of PSGT and attitudes towards direct contact as an alternative to fam...

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Publisher copy:
10.1038/ejhg.2013.81

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Institution:
University of Oxford
Division:
MSD
Department:
Nuffield Department of Population Health
Sub department:
Population Health
Role:
Author
Journal:
European Journal of Human Genetics
Volume:
22
Issue:
1
Pages:
88-93
Publication date:
2014-01-01
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
Language:
English
Keywords:
Pubs id:
pubs:444653
UUID:
uuid:5240dec6-8c20-464d-99a7-2e33f337f381
Local pid:
pubs:444653
Source identifiers:
444653
Deposit date:
2014-05-09

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