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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

Authors


Ormondroyd, E More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Population Health
Watkins, H More by this author
Journal:
European Journal of Human Genetics
Volume:
22
Issue:
1
Pages:
88-93
Publication date:
2014-01-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:5240dec6-8c20-464d-99a7-2e33f337f381
Source identifiers:
444653
Local pid:
pubs:444653
Language:
English
Keywords:

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