Quaid K A, Morris M
Indiana University School of Medicine, Department of Medical and Molecular Genetics, Indianapolis 46202-5251.
Am J Med Genet. 1993 Jan 1;45(1):41-5. doi: 10.1002/ajmg.1320450112.
The development of a presymptomatic test for Huntington Disease (HD) has enabled some persons at risk to determine whether or not they are gene carriers. The purpose of this study was to explore the reasons why those at risk choose not to be tested in a situation where testing is available and most of the test-associated costs are covered by state funding. Subjects were also asked their levels of knowledge about testing, attitudes towards aspects of the testing protocols, and intentions towards testing once the gene for HD is found. Sixty-six individuals at risk for HD who had chosen not to be tested completed a mailed questionnaire. The most important reasons for not being tested were increased risk to children if one was found to be a gene carrier, absence of an effective cure, potential loss of health insurance, financial costs of testing, and the inability to "undo" the knowledge. Individuals comprising this sample were quite knowledgeable about predictive testing. Most supported the availability of testing despite the lack of a cure, the need for special counseling prior to testing, and the idea that testing should be a voluntary decision. Most said they would take the test if a treatment was available, if the mechanics of the test were simplified, or if the test was 100% accurate. The risk to relatives, lack of treatment or cure, fear of losing one's health insurance, and the accuracy of the information to be gained from testing are important factors in the decision not to be tested.
亨廷顿舞蹈症（HD）症状前检测方法的发展，使一些有患病风险的人能够确定自己是否为基因携带者。本研究旨在探讨在检测可行且大部分检测相关费用由国家资助的情况下，那些有患病风险的人选择不进行检测的原因。研究对象还被问及他们对检测的了解程度、对检测方案各方面的态度，以及一旦发现亨廷顿舞蹈症基因后的检测意向。66名有亨廷顿舞蹈症患病风险且选择不进行检测的个体填写了一份邮寄问卷。不进行检测的最重要原因包括：若被发现是基因携带者，会增加子女患病风险；没有有效的治疗方法；可能失去医疗保险；检测的经济成本；以及无法“消除”已获知的信息。构成该样本的个体对预测性检测相当了解。尽管缺乏治疗方法、检测前需要特殊咨询，且认为检测应是自愿决定，但大多数人支持进行检测。大多数人表示，如果有治疗方法、检测流程简化或检测100%准确，他们会接受检测。对亲属的风险、缺乏治疗手段、担心失去医疗保险，以及检测所获信息的准确性，都是决定不进行检测的重要因素。
