Perception, experience, and response to genetic discrimination in Huntington disease: the international RESPOND-HD study.
Perception, experience, and response to genetic discrimination in Huntington disease: the international RESPOND-HD study.
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DOI：
10.1002/ajmg.b.31079
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发表时间：
2010-07
影响因子：
2.8
通讯作者：
Paulsen, Jane S.
中科院分区：
文献类型：
--
作者：
Erwin, Cheryl;Williams, Janet K.;Juhl, Andrew R.;Mengeling, Michelle;Mills, James A.;Bombard, Yvonne;Hayden, Michael R.;Quaid, Kimberly;Shoulson, Ira;Taylor, Sandra;Paulsen, Jane S.
基因歧视-定义为仅基于遗传信息（包括家族史）而剥夺权利，特权或机会或其他不利待遇-是患者，医疗保健专业人员，立法者和有携带有害基因风险的家庭成员的重要关注点。来自美国、加拿大和澳大利亚的数据收集自433名有亨廷顿病（HD）风险的个体，他们对导致HD的基因进行了阳性或阴性检测，以及受影响个体的家庭成员，他们有50%的患病风险，但尚未进行检测。在这三个国家中，共有46.2%的受访者报告了基于HD家族史或HD基因突变基因检测的遗传歧视或耻辱。我们报告了美国、加拿大和澳大利亚在保险（25.9%）、就业（6.5%）、人际关系（32.9%）和其他交易（4.6%）领域的歧视和耻辱的总体发生率。自我报告的歧视发生率低于对歧视风险的总体担忧，后者在每个领域都更为普遍。尽管与个人关系中的歧视和耻辱感相比，健康保险和就业领域的基因歧视率相对较低，但所有经验领域的基因歧视累积负担对那些有HD风险的人来说是一个挑战。这种累积负担对日常生活决定的影响仍然未知。
Genetic discrimination—defined as the denial of rights, privileges, or opportunities or other adverse treatment based solely on genetic information (including family history)—is an important concern to patients, healthcare professionals, lawmakers, and family members at risk for carrying a deleterious gene. Data from the United States, Canada, and Australia were collected from 433 individuals at risk for Huntington disease (HD) who have tested either positive or negative for the gene that causes HD and family members of affected individuals who have a 50% risk for developing the disorder but remain untested. Across all three countries, a total of 46.2% of respondents report genetic discrimination or stigma based on either their family history of HD or genetic testing for the HD gene mutation. We report on the overall incidence of discrimination and stigma in the domains of insurance (25.9%), employment (6.5%), relationships (32.9%), and other transactions (4.6%) in the United States, Canada, and Australia combined. The incidence of self-reported discrimination is less than the overall worry about the risk of discrimination, which is more prevalent in each domain. Despite a relatively low rate of perceived genetic discrimination in the areas of health insurance and employment, compared to the perception of discrimination and stigma in personal relationships, the cumulative burden of genetic discrimination across all domains of experience represents a challenge to those at risk for HD. The effect of this cumulative burden on daily life decisions remains unknown.
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