Decruyenaere M, Evers-Kiebooms G, Boogaerts A, Cassiman J J, Cloostermans T, Demyttenaere K, Dom R, Fryns J P, Van den Berghe H
Genet Couns. 1995;6(1):1-13.
In the Center for Human Genetics in Leuven, predictive DNA-testing for Huntington's disease is available as a clinical service since November 1987, initially by DNA-linkage and since mid 1993 by direct mutation analysis. The multidisciplinary approach as well as the detailed test protocol are described. The present paper gives a sociodemographic description of the test applicants, their subjective evaluation of the risk and their motives for requesting the predictive test. Major attention is paid to the personality profile of the applicants who proceeded with testing. Psychometric testing revealed that this group of test applicants did not differ significantly from the general population for most characteristics and even had a number of more positive characteristics e.g. a higher ego-strength. The latter may reflect a self-selection of a more resourceful and emotionally healthier subgroup of at-risk persons. Nevertheless psychological evaluation also has identified a number of applicants with extremely high anxiety levels and other problems, who needed extra pretest and posttest counseling. The relatively high number of withdrawals from the test programme is another indication of the importance of adequate pretest counseling.
自1987年11月起，鲁汶人类遗传学中心便提供亨廷顿舞蹈症的预测性DNA检测临床服务，最初采用DNA连锁分析，自1993年年中起采用直接突变分析。文中描述了多学科方法以及详细的检测方案。本文给出了检测申请者的社会人口学描述、他们对风险的主观评估以及申请预测性检测的动机。主要关注接受检测的申请者的性格特征。心理测试显示，这组检测申请者在大多数特征上与普通人群并无显著差异，甚至有一些更积极的特征，比如更强的自我力量。后者可能反映出高危人群中一个更有智谋且情绪更健康的亚组的自我选择。尽管如此，心理评估也发现了一些焦虑水平极高和有其他问题的申请者，他们需要额外的检测前和检测后咨询。检测项目中相对较高的退出人数是充分的检测前咨询重要性的另一个迹象。
