Hersch S, Jones R, Koroshetz W, Quaid K
Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322.
Neurology. 1994 Aug;44(8):1369-73. doi: 10.1212/wnl.44.8.1369.
Even though the discovery of the HD gene will make genetic testing much easier to perform, until there is an effective treatment, it will be no easier for HD families to learn who among them carries the mutation. We believe that the standard of care for obtaining genetic testing for HD, as well as for other inherited neurodegenerative disorders, must continue to include extensive counseling, psychological assessment and support, a neurologic examination, and post-test follow-up. We advocate a flexible approach consistent with the individual's particular needs, but we emphasize that it is essential that these basic elements be adequately addressed.
尽管亨廷顿舞蹈症基因的发现将使基因检测的操作变得更加容易，但在出现有效治疗方法之前，亨廷顿舞蹈症患者家庭要弄清楚家族中谁携带这种突变并不会变得更容易。我们认为，针对亨廷顿舞蹈症以及其他遗传性神经退行性疾病进行基因检测的护理标准，必须继续包括广泛的咨询、心理评估与支持、神经学检查以及检测后的随访。我们提倡一种符合个人特定需求的灵活方法，但我们强调充分处理这些基本要素至关重要。
