Taylor S D
Department of Psychiatry, Launceston General Hospital, TAS.
Med J Aust. 1994 Sep 19;161(6):351, 354-5. doi: 10.5694/j.1326-5377.1994.tb127485.x.
To assess the demand for genetic testing for Huntington's disease among at-risk individuals and for prenatal testing among parents at risk of transmitting the disease, from January 1987 to March 1993.
Questionnaires were sent to all State coordinators of genetic testing services.
One hundred and ninety adults (5.5% of those at risk) and 56 fetuses were tested. Nine per cent more women than men used the service. Most people tested were married and had offspring. Men generally presented for testing at an older age than women.
The low uptake for testing is not surprising given the severity and untreatability of the illness. Careful monitoring is required, particularly of the effects on individuals told of their genetic status and of possible abuse of the information by third parties.
评估1987年1月至1993年3月期间，有患亨廷顿舞蹈病风险的个体对基因检测的需求，以及有疾病遗传风险的父母对产前检测的需求。
向所有基因检测服务的州协调员发送问卷。
190名成年人（占风险人群的5.5%）和56名胎儿接受了检测。使用该服务的女性比男性多9%。大多数接受检测的人已婚并有后代。男性进行检测的年龄通常比女性大。
鉴于该疾病的严重性和不可治愈性，检测接受率低并不令人惊讶。需要进行仔细监测，特别是监测告知个体其基因状况所产生的影响以及第三方可能对信息的滥用。
