Mennie M E, Holloway S M, Brock D J
Department of Medicine, University of Edinburgh, Western General Hospital.
J Med Genet. 1990 Apr;27(4):224-7. doi: 10.1136/jmg.27.4.224.
A postal questionnaire was sent to all 797 general practitioners (GPs) in the Lothians, Borders, and Fife (Scotland), enquiring about attitudes to presymptomatic testing for Huntington's disease. The response rate was 74%. Eighty-two percent were in favour of the principle of predictive testing for Huntington's disease. A majority of those not in favour were prepared to refer their patients for testing. However, three-quarters of GPs were unfamiliar with the details of DNA based linkage analysis. Half of the respondents felt that disclosure of the test result and subsequent counselling and support were the responsibility of the genetic clinic. A third of respondents considered that the genetic clinic should disclose the test result while the GP should give post-test counselling and support. These findings suggest that delivering presymptomatic testing to persons at risk of Huntington's disease would be facilitated by a closer involvement of local GPs.
一份邮政调查问卷被寄给了洛锡安、边境地区和法夫郡(苏格兰)的所有797名全科医生(GPs),询问他们对亨廷顿舞蹈症症状前检测的态度。回复率为74%。82%的人赞成对亨廷顿舞蹈症进行预测性检测的原则。大多数不赞成的人准备将他们的患者转介进行检测。然而,四分之三的全科医生不熟悉基于DNA的连锁分析的细节。一半的受访者认为检测结果的披露以及随后的咨询和支持是基因诊所的责任。三分之一的受访者认为基因诊所应该披露检测结果,而全科医生应该提供检测后咨询和支持。这些发现表明,当地全科医生更密切的参与将有助于为有亨廷顿舞蹈症风险的人提供症状前检测。