Dudok deWit A C, Duivenvoorden H J, Passchier J, Niermeijer M F, Tibben A
Department of Medical Psychology, Erasmus University Rotterdam, The Netherlands.
Psychosom Med. 1998 Sep-Oct;60(5):543-9. doi: 10.1097/00006842-199809000-00005.
To compare the effects of predictive DNA testing on participants at risk for either Huntington disease (HD), or familial adenomatous polyposis (FAP), or hereditary breast and ovarian cancer (HBOC).
Psychological distress was measured with the Impact of Event Scale before testing and at 1 week and 6 months after the test result, in individuals at 50% risk for either HD (N = 25), FAP (N = 23), or HBOC (N = 10).
A marginally significant trend was found indicating that carriers of the disease genes tended to show unchanged levels of distress during the study period whereas noncarriers showed the expected decrease. Men reported significantly less distress than women, and 1 week after the test result male noncarriers showed a sharp significant increase in the reported distress followed by a steady decline up to 6 months later.
The course of distress over time reported by carriers and noncarriers of the three disease genes was similar, which leads one to conclude that the previous experience with predictive testing for Huntington Disease may be a useful paradigm. However, those formerly at risk for HD reported more distress than those at risk for FAP and HBOC. From our clinical experience we learned that individuals at risk for FAP and HBOC are more inclined to ward off the emotions involved. Additional qualitative studies should be undertaken to investigate this.
比较预测性DNA检测对患亨廷顿舞蹈症（HD）、家族性腺瘤性息肉病（FAP）或遗传性乳腺癌和卵巢癌（HBOC）风险人群的影响。
对患HD（N = 25）、FAP（N = 23）或HBOC（N = 10）风险均为50%的个体，在检测前、检测结果出来后1周和6个月时，用事件影响量表测量其心理困扰程度。
发现一个边缘显著趋势，即疾病基因携带者在研究期间的困扰水平往往保持不变，而非携带者则如预期那样下降。男性报告的困扰明显少于女性，检测结果出来后1周，男性非携带者报告的困扰急剧显著增加，随后直至6个月后稳步下降。
三种疾病基因携带者和非携带者报告的随时间变化的困扰过程相似，这使人得出结论，先前亨廷顿舞蹈症预测性检测的经验可能是一个有用的范例。然而，先前有HD风险的人报告的困扰比有FAP和HBOC风险的人更多。从我们的临床经验来看，有FAP和HBOC风险的个体更倾向于回避相关情绪。应开展更多定性研究对此进行调查。
