A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone
A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone
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DOI：
10.1038/gim.2017.103
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发表时间：
2018-01-01
影响因子：
8.8
通讯作者：
Green, Robert C.
中科院分区：
文献类型：
--
作者：
Christensen, Kurt D.;Uhlmann, Wendy R.;Green, Robert C.
目的：通过电话披露基因检测结果可以改善服务的获得。迄今为止，其影响的研究集中在孟德尔风险信息，主要是遗传性癌症syndrome.Methods：在阿尔茨海默病遗传风险披露的多地点试验，无症状的成年人被随机接受测试结果的人或通过电话。主要分析检查病人的结果12个月后disclose.Results：从257名参与者的数据显示，电话披露发生提前7.4天，是30%，平均短于人披露（均P < 0.001）。各方案的焦虑和抑郁评分均远低于临床问题的临界值。比较电话和面对面的披露协议，99%的置信区间的平均差异的非劣效性范围内的规模评估焦虑，抑郁和测试相关的困扰，但不确定的积极影响。在回忆和主观影响的测量上没有观察到差异。亚组分析支持载脂蛋白E（APOE）β 4阴性受试者所有结局的非劣效性。亚组分析是不确定的APOE β 4阳性的参与者，虽然平均焦虑和抑郁的分数仍然远低于cutoffs的临床concerns.Conclusion：电话披露的APOE结果和阿尔茨海默病的风险一般是安全的，并帮助供应商满足服务的需求，即使当结果确定疾病的风险增加。
Purpose: Telephone disclosure of genetic test results can improve access to services. To date, studies of its impact have focused on return of Mendelian risk information, principally hereditary cancer syndromes.Methods: In a multisite trial of Alzheimer disease genetic risk disclosure, asymptomatic adults were randomized to receive test results in person or via telephone. Primary analyses examined patient outcomes 12 months after disclosure.Results: Data from 257 participants showed that telephone disclosure occurred 7.4 days sooner and was 30% shorter, on average, than in-person disclosure (both P < 0.001). Anxiety and depression scores were well below cutoffs for clinical concern across protocols. Comparing telephone and in-person disclosure protocols, 99% confidence intervals of mean differences were within noninferiority margins on scales assessing anxiety, depression, and test-related distress, but inconclusive about positive impact. No differences were observed on measures of recall and subjective impact. Subanalyses supported noninferiority on all outcomes among apolipoprotein E (APOE) epsilon 4-negative participants. Subanalyses were inconclusive for APOE epsilon 4-positive participants, although mean anxiety and depression scores were still well below cutoffs for clinical concern.Conclusion: Telephone disclosure of APOE results and risk for Alzheimer disease is generally safe and helps providers meet demands for services, even when results identify an increased risk for disease.