Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD 20892-2073, USA.
Eur J Hum Genet. 2010 Dec;18(12):1296-301. doi: 10.1038/ejhg.2010.119. Epub 2010 Jul 28.
This study evaluates the extent to which psychological adaptation (validated measures of depressive symptoms, anxiety, and test-specific distress) after genetic susceptibility testing is influenced by changes in beliefs about Alzheimer's disease (AD) and sharing of test results with others. Adult children of AD patients (N=269) from a randomized clinical trial involving genetic testing for apolipoprotein E (APOE) provided information before, as well as 6 weeks and 12 months after results disclosure. The levels of adaptation varied highly among participants at 12-month assessment. Participants who learned that they were ε4 negative (lower risk) had a reduction in perceived risk and concern about developing AD compared with those who learned that they were ε4 positive. Those who received results through an extended educational protocol (three in-person visits) had a larger decline in AD concern than those in a condensed protocol (educational brochure and two in-person visits). Increase in AD concern 6 weeks after disclosure was associated with increase in depression scores (b=0.20, P<0.01) and anxiety levels (b=0.20, P<0.01), and higher distress associated with AD genetic testing (b=0.18, P=0.02) 1 year after testing. Increase in perceived risk (b=0.16, P=0.04) was also associated with higher AD genetic testing distress. Sharing the test results with health professionals and friends (but not family) was associated with decrease in depression (b=-0.11, P=0.05) and anxiety levels (b=-0.16, P<0.01), respectively after a year. Enhancing discussion with regard to risks and concerns about AD during pretesting counseling and obtaining support through sharing the results after testing may help facilitate test recipients' long-term psychological adaptation.
本研究评估了心理适应（经过验证的抑郁症状、焦虑和特定测试的困扰测量）在多大程度上受到对阿尔茨海默病（AD）的信念变化以及与他人分享测试结果的影响。来自一项涉及载脂蛋白 E（APOE）基因检测的随机临床试验的 AD 患者的成年子女（N=269）在结果披露之前、之后 6 周和 12 个月提供了信息。在 12 个月评估中，参与者的适应水平差异很大。与得知自己为 ε4 阳性（更高风险）的参与者相比，得知自己为 ε4 阴性（较低风险）的参与者降低了对患 AD 的感知风险和担忧。通过扩展教育方案（三次面对面访问）获得结果的参与者比通过浓缩方案（教育小册子和两次面对面访问）获得结果的参与者对 AD 的担忧程度下降更大。披露后 6 周 AD 担忧的增加与抑郁评分（b=0.20，P<0.01）和焦虑水平（b=0.20，P<0.01）的增加以及与 AD 基因检测相关的更高困扰（b=0.18，P=0.02）有关测试后 1 年。感知风险的增加（b=0.16，P=0.04）也与 AD 基因检测的更高困扰相关。与健康专业人员和朋友（但不是家人）分享测试结果与一年后抑郁（b=-0.11，P=0.05）和焦虑水平（b=-0.16，P<0.01）的降低分别相关。在预测试咨询期间增强对 AD 的风险和担忧的讨论，并通过测试后分享结果获得支持，可能有助于促进测试接受者的长期心理适应。
