Scuffham Tracey M, MacMillan John C
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia,
J Genet Couns. 2014 Oct;23(5):754-61. doi: 10.1007/s10897-013-9678-z. Epub 2014 Jan 8.
The aims of this study were to: 1) quantify the characteristics of those seeking presymptomatic testing for HD, 2) identify their motivations for testing, 3) quantify the waiting times between the various steps within the testing process, and 4) quantify the outcomes of testing at a large state-wide genetic testing center in Australia. A review of medical charts for all referrals for presymptomatic testing of Huntington disease received over a 4 year period (2006-2010) was undertaken. A total of 152 cases met the study inclusion criteria; the mean age was 39 years, 46 % were male and 61 % underwent genetic testing. Of the males who were tested there was a non-significant trend towards having an affected mother vs father (62 %, p = 0.09), whereas females tested were just as likely to have an affected mother or father. The most frequently cited reasons for seeking testing were "family planning", "plan future", and "need to know". Some 11 % deferred testing following the psychological assessment. Of those at 50 % prior risk, 57.5 % tested positive; this was higher than expected and much higher than reported in other studies. The median times from referral to initial appointment, and then to results was 69 days and 144 days respectively. Overall, this review of medical charts shows the depth of information obtainable from routinely collected data and revealed that a high proportion of patients tested positive for HD at this centre.
1）量化那些寻求亨廷顿舞蹈症（HD）症状前检测者的特征；2）确定他们进行检测的动机；3）量化检测过程中各个步骤之间的等待时间；4）量化澳大利亚一家大型全州基因检测中心的检测结果。对在4年期间（2006 - 2010年）收到的所有亨廷顿舞蹈症症状前检测转诊的病历进行了回顾。共有152例符合研究纳入标准；平均年龄为39岁，46%为男性，61%接受了基因检测。在接受检测的男性中，母亲患病与父亲患病的比例无显著差异（62%，p = 0.09），而接受检测的女性中，母亲或父亲患病的可能性相同。寻求检测最常提及的原因是“计划生育”“规划未来”和“需要知道”。约11%的人在心理评估后推迟了检测。在有50%患病风险的人群中，57.5%检测呈阳性；这高于预期，且远高于其他研究报告的比例。从转诊到首次预约以及到获得结果的中位时间分别为69天和144天。总体而言，本次病历回顾显示了从常规收集的数据中可获得的信息深度，并表明该中心有很大比例的患者HD检测呈阳性。
