Managing genetic discrimination: Strategies used by individuals found to have the Huntington disease mutation
Managing genetic discrimination: Strategies used by individuals found to have the Huntington disease mutation
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DOI：
10.1111/j.1399-0004.2007.00770.x
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发表时间：
2007-03-01
影响因子：
3.5
通讯作者：
Hayden, M. R.
中科院分区：
文献类型：
--
作者：
Bombard, Y.;Penziner, E.;Hayden, M. R.
20 多年前引入亨廷顿病 (HD) 预测测试，导致出现了一组新的患有 HD 突变的个体，这些人目前无症状，但很可能在未来某个时候受到影响。遗传歧视是一种与预测测试相关的社会风险，是基于基因型差异而不是身体特征对个体进行区别对待。虽然存在遗传歧视的证据，但人们对患有 HD 突变的个体如何应对遗传歧视的可能性或经历知之甚少。本研究的目的是探讨携带 HD 突变的个体如何管理基因歧视的风险和经历。对 37 名被发现患有 HD 突变的人进行了半结构化个人访谈，并使用扎根理论方法进行了分析。研究结果提出了四种主要策略：“保持低调”、尽量减少、先发制人和对抗基因歧视。策略根据个人参与基因歧视的程度和经历的性质（基因歧视的实际经历或对其潜力的关注）而有所不同。这一探索性框架可以解释HD风险增加的个体对遗传歧视的方法和反应的差异，并可以为有其他迟发性遗传病风险的人应对遗传歧视提供见解。
The introduction of predictive testing for Huntington disease (HD) over 20 years ago has led to the advent of a new group of individuals found to have the HD mutation that are currently asymptomatic, yet destined in all likelihood to become affected at some point in the future. Genetic discrimination, a social risk associated with predictive testing, is the differential treatment of individuals based on genotypic difference rather than physical characteristics. While evidence for genetic discrimination exists, little is known about how individuals found to have the HD mutation cope with the potential for or experiences of genetic discrimination. The purpose of this study was to explore how individuals found to have the HD mutation manage the risk and experience of genetic discrimination. Semi-structured individual interviews were conducted with 37 individuals who were found to have the HD mutation and analysed using grounded theory methods. The findings suggest four main strategies: "keeping low", minimizing, pre-empting and confronting genetic discrimination. Strategies varied depending on individuals' level of engagement with genetic discrimination and the nature of the experience (actual experience of genetic discrimination or concern for its potential). This exploratory framework may explain the variation in approaches and reactions to genetic discrimination among individuals living with an increased risk for HD and may offer insight for persons at risk for other late-onset genetic diseases to cope with genetic discrimination.