Almqvist E W, Brinkman R R, Wiggins S, Hayden M R
Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.
Clin Genet. 2003 Oct;64(4):300-9. doi: 10.1034/j.1399-0004.2003.00157.x.
The promise of genetic medicine is to provide information, based on genotype, to persons not yet sick about their risk of future illness. However, little is known of the long-term psychological effects for asymptomatic persons learning their risk of having a serious disease. Predictive genetic testing for Huntington's disease (HD) has been offered for the longest time for any disease. In the present study, the psychological consequences of predictive testing were assessed prospectively in individuals at risk for HD during seven visits over 5 years. Questionnaires of standard measures of psychological distress (the General Severity Index of the Symptom Check List-90-Revised), depression (the Beck Depression Inventory), and general well-being (the General Well-Being Scale) were administered to the participants. A significant reduction in psychological distress was observed for both result groups throughout 2 years (p < 0.001) and at 5 years (p = 0.002). Despite the overall improvement of the psychological well-being, 6.9% (14 of 202) of the participants experienced an adverse event during the first 2 years after predictive testing that was clinically significant. The frequency of all defined adverse events in the participants was 21.8%, with higher frequency in the increased risk group (p = 0.03) and most occurring within 12 months of receiving results.
基因医学的前景是根据基因型为尚未患病的人提供有关其未来患病风险的信息。然而，对于无症状个体了解自己患严重疾病风险的长期心理影响，我们知之甚少。针对亨廷顿舞蹈症（HD）的预测性基因检测是针对任何疾病开展时间最长的检测。在本研究中，对有HD风险的个体在5年中的7次访视期间前瞻性地评估了预测性检测的心理后果。向参与者发放了心理困扰标准测量问卷（症状自评量表90修订版的总体严重指数）、抑郁问卷（贝克抑郁量表）和总体幸福感问卷（总体幸福感量表）。在两年（p < 0.001）和五年（p = 0.002）时，两个结果组的心理困扰均显著降低。尽管总体心理健康状况有所改善，但6.9%（202人中的14人）的参与者在预测性检测后的头两年内经历了具有临床意义的不良事件。参与者中所有明确不良事件的发生率为21.8%，风险增加组的发生率更高（p = 0.03），且大多数发生在收到检测结果后的十二个月内。
