"You're One of Us Now": Young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP)
"You're One of Us Now": Young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP)
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DOI：
10.1002/ajmg.c.30158
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发表时间：
2008-02-15
影响因子：
3.1
通讯作者：
Delatycki, Martin B.
中科院分区：
文献类型：
--
作者：
Duncan, Rony E.;Gillam, Lynn;Delatycki, Martin B.
关于未成年人预测性基因检测的心理社会影响，一直存在很多争论。这场辩论的大部分是理论性的，很少有经验证据发表。我们对18名接受过测试的年轻人进行了深入访谈，以探索他们认为与测试相关的危害和益处。参与者包括8名接受过亨廷顿病检测的人（2名基因阳性，6名基因阴性）和10名接受过家族性腺瘤性息肉病检测的人（5名基因阳性，5名基因阴性）。在测试时，他们的年龄从10岁到25岁不等。受访者年龄在14至26岁之间。所描述的伤害包括了解未来的疾病，目睹父母的痛苦，对家庭关系和友谊的负面影响，对就业和学校的影响，经历遗憾，感到内疚和不得不面对困难的问题。好处包括基因阴性状态的知识，从不确定性中解脱出来，目睹父母的解脱，感觉能够为未来做计划，对家庭关系和友谊产生积极影响，感觉有能力并对生活中重要的事情有清晰的认识。描述了与基因阴性检测结果相关的损害，以及与基因阳性检测结果相关的获益。测试过程本身对年轻人有几个积极和消极的影响，与实际测试结果不同。未来关于预测性基因检测对年轻人的影响的研究必须保持广泛性，并应旨在衡量对年轻人本身产生共鸣的有益和有害影响。(c)2008 Wiley-Liss，Inc.
There has been much debate about the psychosocial effects of predictive genetic testing in minors. The majority of this debate has been theoretical, with little empirical evidence published. We conducted in-depth interviews with 18 young people who had undergone testing, to explore the range of harms and benefits that they perceived were associated with their tests. Participants were eight individuals who were tested for Huntington disease (two gene-positive, six gene-negative) and ten who were tested for familial adenomatous polyposis (five gene-positive, five gene-negative). At the time of their test they ranged from 10 to 25 years of age. When interviewed they ranged from 14 to 26 years of age. Harms described included knowledge of future illness, witnessing distress in parents, negative effects on family relationships and friendships, effects upon employment and school, experiencing regret, feeling guilty and having to confront difficult issues. Benefits included knowledge of gene-negative status, relief from uncertainty, witnessing relief in parents, feeling able to plan for the future, positive effects on family relationships and friendships, feeling empowered and experiencing a sense of clarity about what is important in life. Harms were described in relation to gene-negative test results, as were benefits in relation to gene-positive test results. The testing process itself had several positive and negative effects for young people, distinct from the actual test result. Future research concerning the effects of predictive genetic testing in young people must remain broad and should aim to measure the beneficial as well as the harmful effects that resonate for young people themselves. (c) 2008 Wiley-Liss, Inc.