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荷兰全科医生对亨廷顿舞蹈症症状前DNA检测的态度。

Attitudes of Dutch general practitioners towards presymptomatic DNA-testing for Huntington disease.

作者信息

Thomassen R, Tibben A, Niermeijer M F, van der Does E, van de Kamp J J, Verhage F

机构信息

Department of Medical Psychology, Erasmus University, Rotterdam, The Netherlands.

出版信息

Clin Genet. 1993 Feb;43(2):63-8. doi: 10.1111/j.1399-0004.1993.tb04428.x.

Abstract

The attitudes of 1020 Dutch GP's towards presymptomatic and prenatal testing for Huntington disease (HD) were studied by means of a postal questionnaire. The questionnaire contained questions about: approval of presymptomatic DNA-testing, informing individuals at-risk who do not request predictive testing, referral to a clinical genetics center, and opinions about different strategies of informing and supporting individuals at-risk. The response rate was 62%. More than two-thirds of the GP's considered post-test counselling and support as their responsibility. Twenty-six per cent were of the opinion that the test results should be disclosed by the GP. Fifty-nine per cent of GP's who had an individual at-risk in their practice were familiar with the test. The attitudes of GP's towards giving support and giving test results were independent of familiarity with the test and the incidence of HD-patients or at-risk individuals in the practice. Although GP's were willing to play an important role in presymptomatic DNA-testing procedures, there is a risk that they might underestimate the difficulties in communicating genetic information and the psychosocial effects of DNA-testing. Hence, we favor the premise that extensive pretest counselling and test disclosure should remain the prime responsibility of the clinical geneticist. Increasing involvement of GP's should, however, be encouraged and combined with appropriate postgraduate education about predictive DNA-testing in general.

摘要

通过邮政问卷对1020名荷兰全科医生对亨廷顿舞蹈病(HD)症状前和产前检测的态度进行了研究。问卷包含以下问题:对症状前DNA检测的认可、告知未要求进行预测性检测的高危个体、转介至临床遗传学中心,以及对告知和支持高危个体的不同策略的看法。回复率为62%。超过三分之二的全科医生认为检测后咨询和支持是他们的责任。26%的人认为检测结果应由全科医生披露。在其诊疗中有高危个体的全科医生中,59%熟悉该检测。全科医生在提供支持和检测结果方面的态度与对检测的熟悉程度以及诊疗中HD患者或高危个体的发病率无关。尽管全科医生愿意在症状前DNA检测程序中发挥重要作用,但存在他们可能低估传达遗传信息的困难以及DNA检测的社会心理影响的风险。因此,我们支持这样的前提,即广泛的检测前咨询和检测结果披露应仍然是临床遗传学家的主要责任。然而,应鼓励全科医生更多地参与,并结合关于一般预测性DNA检测的适当研究生教育。

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