lunes, 13 de mayo de 2013

Pre-symptomatic genetic testing for inherite... [Eur J Hum Genet. 2013] - PubMed - NCBI

Pre-symptomatic genetic testing for inherite... [Eur J Hum Genet. 2013] - PubMed - NCBI


Eur J Hum Genet. 2013 May 1. doi: 10.1038/ejhg.2013.81. [Epub ahead of print]


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





Source


Department of Cardiovascular Medicine, University of Oxford, Level 6 West Wing, John Radcliffe Hospital, Oxford, UK.



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 family-mediated dissemination for ICCs. In depth, interviews were conducted with 22 participants eligible for PSGT for Hypertrophic Cardiomyopathy or Long QT syndrome. Data were analysed using an inductive, thematic approach. Risk is perceived to be low pre-test in the absence of symptoms, and participants frequently test with the aim of ruling out risk to self and children. Testing of children is a complex decision; although older participants have concerns about possible adverse effects of genetic testing early in the life course, young participants are pragmatic about their result. The meaning of a positive genetic test result may be difficult to conceptualise in the absence of clinical evidence of disease, and this may deter further dissemination to at-risk family members. A majority of participants see advantages in direct contact from health professionals and support it in principle. Implications for practice include addressing risk perception pre-test, and presenting genetic test information as part of a risk stratification process rather than a binary outcome. Families may require more support or intervention in cascading genetic test information.European Journal of Human Genetics advance online publication, 1 May 2013; doi:10.1038/ejhg.2013.81.



PMID:

23632793
[PubMed - as supplied by publisher]

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