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年轻女性对亨廷顿舞蹈症预测性检测的认知:宁愿选择不确定性而非确定性?

Perception of predictive testing for Huntington's disease by young women: preferring uncertainty to certainty?

作者信息

Decruyenaere M, Evers-Kiebooms G, Van den Berghe H

机构信息

Centre for Human Genetics, UZ Gasthuisberg, Leuven, Belgium.

出版信息

J Med Genet. 1993 Jul;30(7):557-61. doi: 10.1136/jmg.30.7.557.

DOI:10.1136/jmg.30.7.557
PMID:8411027
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016454/
Abstract

Opinions on the implications of predictive testing for Huntington's disease were evaluated in a group of 169 women (aged 21-35 years) with interest in psychosocial issues, but with no special pre-existing knowledge or training in genetics. Predictive testing for Huntington's disease (HD) is considered to be a test case for predictive testing for other late onset diseases, monogenic as well as multifactorial disorders. In the hypothetical situation of having a 50% risk for developing HD, about half of the group expressed interest in a predictive test. As to the question of giving results of predictive tests to third parties, the group would be very reluctant to inform the employer or the insurer, but not their own family. Prenatal testing for late onset diseases was considered acceptable by half of the women; only one quarter of the total group would terminate a pregnancy of a child that might develop a late onset disease. The assessment of attitudes towards predictive testing was carried out within the context of a global evaluation of perceived advantages and disadvantages of genetic counselling. The attitudes towards predictive testing were systematically associated with perceiving 'having more certainty about the future' as an advantage of genetic counselling and with rejecting 'knowing everything in advance' as a disadvantage.

摘要

对169名年龄在21至35岁之间、关注心理社会问题但此前没有遗传学方面专门知识或培训的女性,评估了她们对亨廷顿舞蹈症预测性检测影响的看法。亨廷顿舞蹈症(HD)的预测性检测被视为其他迟发性疾病(单基因和多因素疾病)预测性检测的一个测试案例。在患HD风险为50%的假设情况下,约一半的人表示有兴趣进行预测性检测。关于将预测性检测结果告知第三方的问题,该群体非常不愿意告知雇主或保险公司,但愿意告知自己的家人。一半的女性认为对迟发性疾病进行产前检测是可以接受的;在整个群体中,只有四分之一的人会终止可能患迟发性疾病胎儿的妊娠。对预测性检测态度的评估是在对基因咨询感知到的利弊进行全面评估的背景下进行的。对预测性检测的态度与将“对未来更确定”视为基因咨询的一个优势以及将“提前知晓一切”视为一个劣势有系统关联。