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德国神经科医生、精神科医生和心理治疗师对亨廷顿舞蹈症预测性检测的态度。

Attitudes of neurologists, psychiatrists, and psychotherapists towards predictive testing for Huntington's disease in Germany.

作者信息

Thies U, Bockel B, Bochdalofsky V

机构信息

Institute of Human Genetics, University of Göttingen, Germany.

出版信息

J Med Genet. 1993 Dec;30(12):1023-7. doi: 10.1136/jmg.30.12.1023.

Abstract

Predictive testing for Huntington's disease (HD) in Germany is performed by genetic counsellors, neurologists, psychiatrists, and psychotherapists. In order to evaluate the attitudes of neurologists, psychiatrists, and psychotherapists in Germany towards predictive testing for HD, a postal questionnaire was sent to this group. Two German Bundesländer were chosen, Baden Württemberg (BW) and Niedersachsen (NS). Of 469 persons interviewed the response rate was 32.6%. The questionnaire consisted of 17 items assessing sociodemographic data, acquaintance with HD patients, lay organisations, attitudes towards genetic counselling, presymptomatic and prenatal DNA testing, and reproduction of persons at risk for HD. More than 70% of the subjects were well informed about predictive DNA testing but knowledge about the details of the test procedure, especially the World Federation of Neurology (WFN) and International Huntington Association (IHA)1 recommendations, was quite low (11.8%). Nevertheless, the majority would recommend predictive testing for HD although they anticipated problems for the probands. The majority of our respondents favoured psychological test and post-test counselling for those tested. Concerning reproduction, most subjects favoured prenatal testing or that persons at risk should refrain from having children. We found that the opinions of practitioners and at risk persons differed with respect to the predictive DNA test and, particularly, to prenatal testing. Therefore the testing procedure could be improved if practitioners were better informed about the DNA test in general and about the attitudes and wishes of their patients.

摘要

在德国,亨廷顿舞蹈症(HD)的预测性检测由遗传咨询师、神经科医生、精神科医生和心理治疗师进行。为了评估德国神经科医生、精神科医生和心理治疗师对HD预测性检测的态度,向该群体发送了一份邮政调查问卷。选择了德国的两个联邦州,巴登-符腾堡州(BW)和下萨克森州(NS)。在接受采访的469人中,回复率为32.6%。问卷包括17个项目,评估社会人口统计学数据、与HD患者的相识情况、患者组织、对遗传咨询的态度、症状前和产前DNA检测,以及HD高危人群的生育情况。超过70%的受试者对预测性DNA检测有充分了解,但对检测程序细节的了解,尤其是世界神经病学联合会(WFN)和国际亨廷顿协会(IHA)的建议,相当有限(11.8%)。尽管如此,大多数人仍会推荐进行HD预测性检测,尽管他们预计检测者会遇到问题。我们的大多数受访者赞成对检测者进行心理测试和检测后咨询。关于生育,大多数受试者赞成进行产前检测,或者高危人群应避免生育。我们发现,从业者和高危人群在预测性DNA检测方面,尤其是在产前检测方面,意见存在分歧。因此,如果从业者对DNA检测总体情况以及患者的态度和愿望有更充分的了解,检测程序可以得到改进。

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Attitudes toward presymptomatic testing in Huntington disease.
Am J Med Genet. 1987 Feb;26(2):271-82. doi: 10.1002/ajmg.1320260205.

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