Holloway S M, Porteous M E, Fitzpatrick D R, Crosbie A E, Cetnarskyj R, Warner J, Barron L
Clinical Genetics Unit, University of Edinburgh Department of Medicine, Western General Hospital, U.K..
Genet Couns. 1998;9(2):103-11.
In Edinburgh, we have compared presymptomatic testing by linkage and by direct mutation analysis by investigating the demand for testing and characteristics of test applicants. Annual new requests for the direct test (DT) are now double the peak with the linkage test (LT) but only 6% individuals have requested re-testing. DT applicants were older with a smaller proportion having lived with an affected relative that LT applicants. This was because many were relatives of newly diagnosed first known cases in their family. This may also explain why DT applicants were less likely to expect a negative result and more likely to be uncertain about their risk. A greater proportion of DT applicants first heard about the test from relatives or their GP than LT applicants who were more likely to hear from Genetic Centre. The demand for follow-up by the Geneticist/Genetic Nurse was much less for DT than for LT applicants largely due to the support offered by the HD Advisors.
在爱丁堡，我们通过调查检测需求和检测申请者的特征，对连锁分析预症状检测和直接突变分析进行了比较。目前，直接检测（DT）的年度新申请量是连锁检测（LT）高峰期的两倍，但只有6%的个体要求重新检测。DT申请者年龄较大，与受影响亲属共同生活的比例低于LT申请者。这是因为许多人是其家族中新确诊的首例已知病例的亲属。这也可能解释了为什么DT申请者不太可能预期得到阴性结果，且对自身风险更不确定。与更有可能从遗传中心得知检测信息的LT申请者相比，更大比例的DT申请者最初是从亲属或全科医生那里听说这项检测的。遗传学家/遗传护士对DT申请者的随访需求远低于LT申请者，这主要是由于亨廷顿舞蹈症顾问提供的支持。
