"Am I my genes?": Questions of identity among individuals confronting genetic disease.
"Am I my genes?": Questions of identity among individuals confronting genetic disease.
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DOI：
10.1097/gim.0b013e3181bfd212
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发表时间：
2009-12
期刊：
影响因子：
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通讯作者：
Klitzman R
中科院分区：
文献类型：
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作者：
Klitzman R
探索遗传学提出的许多尚未得到充分调查的有关个人身份的问题。我们对 64 名患有亨廷顿病、乳腺癌或 α-1 抗胰蛋白酶缺乏症或有风险的人进行了深度访谈，每次 2 小时。这些人在身份认同的几个难题上苦苦挣扎。他们利用了一系列基因型和表型（例如，仅家族史；突变，但没有症状；或有症状）。他们经常觉得自己的困境不太符合先前存在的类别（例如“生病”、“健康”、“残疾”、“易感”），部分原因是涉及不确定性（例如，预后不明确，因为突变可能不会产生症状）。因此，基因对他们身份的影响程度、影响方式以及负面影响程度各不相同。出现的因素与疾病、家族史和其他身份来源有关。这些身份反过来可能会影响披露、应对和其他健康决策。个体努力构建遗传身份。他们以高度主观的方式看待遗传信息，在关注遗传信息的哪些方面以及如何关注方面差异很大。这些数据对于提供者（帮助患者解决这些问题）、患者和家庭成员的教育具有重要意义；并进行研究，更全面地了解这些问题。
To explore many questions raised by genetics concerning personal identities that have not been fully investigated. We interviewed in depth, for 2 hours each, 64 individuals who had or were at risk for Huntington disease, breast cancer, or alpha-1 antitrypsin deficiency. These individuals struggled with several difficult issues of identity. They drew on a range of genotypes and phenotypes (e.g., family history alone; mutations, but no symptoms; or symptoms). They often felt that their predicament did not fit preexisting categories well (e.g., “sick,” “healthy,” “disabled,” “predisposed”), due in part to uncertainties involved (e.g., unclear prognoses, since mutations may not produce symptoms). Hence, individuals varied in how much genetics affected their identity, in what ways, and how negatively. Factors emerged related to disease, family history, and other sources of identity. These identities may, in turn, shape disclosure, coping, and other health decisions. Individuals struggle to construct a genetic identity. They view genetic information in highly subjective ways, varying widely in what aspects of genetic information they focus on and how. These data have important implications for education of providers (to assist patients with these issues), patients, and family members; and for research, to understand these issues more fully.