Forrest Keenan K, McKee L, Miedzybrodzka Z
Health Services Research Unit, University of Aberdeen, Aberdeen, AB25 2ZD, UK.
Clin Genet. 2015 Jun;87(6):563-9. doi: 10.1111/cge.12439. Epub 2014 Jul 26.
A growing number of young people (YP) are requesting predictive testing (PT) for Huntington's disease (HD), yet there is little research in this area. The aim of this study was to explore YP's experiences of PT for HD, the impact of their result and any gaps in information or support. In-depth interviews were conducted with YP who sought PT for HD from nationally funded Genetics Services. Participants were recruited through the Grampian Genetics Service or Scottish Huntington's Association. Twelve female participants aged 17-26 years were recruited (seven below 20 years). Pre- and post-test interviews were conducted where possible. A qualitative thematic analysis suggests three main testing experiences, regardless of test result. Testing may be: (i) a journey of empowerment, (ii) an ambivalent process or (iii) a poor experience. In pre-test counselling, gaps in emotional support were highlighted. The post-test period was particularly difficult if there were unanticipated changes in family dynamics or an individual's result contradicted what they expected 'deep down'. YP's experiences of PT for HD are generally similar to those of adults, but testing may help or interfere with key issues related to this age and stage. Implications for clinical practice are outlined.
越来越多的年轻人（YP）要求对亨廷顿舞蹈症（HD）进行预测性检测（PT），然而该领域的研究很少。本研究的目的是探讨年轻人对HD进行PT的经历、检测结果的影响以及信息或支持方面的任何差距。对从国家资助的遗传学服务机构寻求HD的PT的年轻人进行了深入访谈。参与者通过格兰扁遗传学服务机构或苏格兰亨廷顿舞蹈症协会招募。招募了12名年龄在17 - 26岁的女性参与者（7名年龄在20岁以下）。尽可能进行了检测前和检测后的访谈。定性主题分析表明，无论检测结果如何，主要有三种检测经历。检测可能是：（i）一个赋权的过程，（ii）一个矛盾的过程，或（iii）一次糟糕的经历。在检测前的咨询中，情感支持方面的差距被凸显出来。如果家庭动态出现意外变化或个人的检测结果与他们“内心深处”的预期相矛盾，检测后的时期会特别困难。年轻人对HD进行PT的经历通常与成年人相似，但检测可能有助于或干扰与这个年龄和阶段相关的关键问题。概述了对临床实践的启示。
