Taylor C A, Myers R H
Department of Neurology, Boston University School of Medicine, Massachusetts 02118, USA.
Am J Med Genet. 1997 Jun 27;70(4):365-70.
We performed a long-term follow-up of Huntington disease (HD) predictive testing (an average of 6 years post-test) for 16 of 20 people who received informative linkage test results. Although no pre-test or baseline psychological differences were noted between those with an increased versus a decreased risk of HD, the long-term impact was dramatically different in these two groups. The low-risk group reported less uncertainty, anxiety or worry, fear, and worry about children's risk, whereas the high-risk group reported either the same or increased concern in these areas. Those at low risk also acknowledged an increased sense of control and self-esteem, whereas those at high risk reported decreases or no changes. One high-risk individual reported chronic depression that had occurred since the testing. Additionally, those at low risk reported greater reliance and faith in spiritual or religious beliefs than those at high risk. The emotional impact of HD genetic testing justifies the continued utilization of pre- and post-test counseling protocols. Pre-test counseling should include discussion of the known risks and benefits of predictive testing, with special emphasis on the participant's expectations for future change and improvement. Although the psychological impact appears mostly favorable for those with decreased risk, there is risk for a decline in psychological well-being over time for those with an increased risk for HD.
我们对20名接受了信息性连锁检测结果的人中的16人进行了亨廷顿舞蹈症（HD）预测性检测的长期随访（检测后平均6年）。尽管在HD风险增加者和风险降低者之间未发现检测前或基线时的心理差异，但这两组的长期影响却截然不同。低风险组报告的不确定性、焦虑或担忧、恐惧以及对子女风险的担忧较少，而高风险组在这些方面的担忧要么相同，要么增加。低风险者还承认控制感和自尊有所增强，而高风险者则报告有所下降或没有变化。一名高风险个体报告自检测后出现了慢性抑郁症。此外，低风险者报告比高风险者更依赖和相信精神或宗教信仰。HD基因检测的情感影响证明继续采用检测前和检测后咨询方案是合理的。检测前咨询应包括讨论预测性检测已知的风险和益处，特别强调参与者对未来变化和改善的期望。尽管心理影响对风险降低者似乎大多有利，但HD风险增加者随着时间推移心理健康可能会下降。
