Young people's experience of predictive genetic testing for inherited cardiac conditions: a qualitative study

年轻人对遗传性心脏病预测基因检测的体验:一项定性研究

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Abstract

Inherited cardiac conditions (ICCs), like inherited cardiomyopathies (ICMs) and long QT syndrome (LQTS), are serious genetic conditions that carry a risk of sudden death. Predictive genetic testing (PT) is routinely available, however, the impact of this testing during the adolescent period is understudied. To understand the lived experience of young people who have undergone PT for ICCs, semi-structured, in-depth interviews were conducted with young people who underwent PT for an ICC between the ages of 10-17 years between January 2009 and July 2020. Their parents were also invited to participate. Participant experiences and views relating to the PT process were explored. Inductive thematic analysis was used to elicit a deep understanding of the experiences and needs of this cohort. Nineteen predictively tested young people were interviewed (8 tested for ICM, 11 for LQTS; of these, 11 were gene-positive) as well as 15 parents. Three intersecting themes were identified: 'it's a family affair' (impact of/on family relationships and experience of the condition); 'post-test day-to-day implications' (impact of integrating gene-status on self-perception); and 'needing developmentally-appropriate intervention and support' (recognising the evolving needs of the young person as an individual and within their family unit). Young people, regardless of their gene status, require individualised support and follow-up. Family structure and experience influences perception and understanding of the PT process, highlighting the need to appropriately involve, support and educate all family members.

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