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Predictive Genetic Testing for Alzheimer's Disease: Impact upon Risk Perception

机译:阿尔茨海默氏病的预测基因测试:对风险感知的影响

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The aim of this study was to determine the impact on risk perceptions of disclosing genetic test results used to estimate the risk of Alzheimer's disease (AD). Adult children (n = 149) of people with AD were randomized to one of two groups—Intervention group: lifetime risk estimates of AD based on age, gender, family history, and Apolipoprotein E (APOE) genotype; Control group: lifetime risk estimates of AD based on the same risk factors excluding APOE genotype. Perceptions of personal risk (PPR) for AD were assessed six weeks after risk assessments. PPR were correlated with actual lifetime risk estimates (r = 0.501; p < 0.0001). After controlling for lifetime risks communicated to participants, age, and number of affected relatives, PPR scores among those with an ε4positive test result (the test result associated with increased AD susceptibility) (adjusted mean: 3.4 (SD: 0.7)) were not different from the PPR scores in the Control group (adjusted mean: 3.4 (SD: 0.7) (F_(1.98) = 1.98; p = 0.162). Again, controlling for lifetime risk estimates, age, and number of affected relatives, the PPR score of those receiving an ε4-negative test result was significantly lower (adjusted mean: 3.1 (SD: 0.8)) than those in the Control group (adjusted mean: 3.4 (SD: 0.7) (F_(1.95) = 6.23; p = 0.014). Perceptions of risk of developing AD are influenced by genetic test disclosure in those receiving ε4-negative, but not those receiving ε4-positive test results. Despite the reduced perceptions of risk in the former group, there was no evidence of false reassurance (i.e., perceiving risks as equal to or lower than population risks of AD), although this possibility should be assessed in other testing contexts.
机译:这项研究的目的是确定公开遗传测试结果的风险感知的影响,该遗传测试结果用于估计阿尔茨海默氏病(AD)的风险。成年AD患者(n = 149)被随机分为两组,即干预组:基于年龄,性别,家族史和载脂蛋白E(APOE)基因型的AD终生风险评估;干预组。对照组:基于除APOE基因型以外的相同风险因素的AD终生风险估计。在风险评估后六周评估对AD的个人风险(PPR)感知。 PPR与实际一生风险估计值相关(r = 0.501; p <0.0001)。在控制了传达给参与者的终生风险,年龄和受影响的亲属数量后,那些具有ε4阳性测试结果(与AD易感性增加相关的测试结果)的患者中的PPR得分(调整后平均值:3.4(标准差:0.7))没有差异根据对照组的PPR评分(调整后平均值:3.4(标准差:0.7)(F_(1.98)= 1.98; p = 0.162)。同样,控制终身风险估计,年龄和受影响亲戚的数量,PPR评分接受ε4阴性测试结果的受访者(调整后平均值:3.1(SD:0.8))显着低于对照组(调整后平均值:3.4(SD:0.7)(F_(1.95)= 6.23; p = 0.014) )。接受ε4阴性的患者接受基因测试会影响罹患AD的风险,但接受ε4阳性的结果则不会受到影响。尽管前者对风险的看法有所降低,但没有证据表明有错误的保证(即,感知到等于或低于人口风险的风险o f AD),尽管应该在其他测试环境中评估这种可能性。

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