Broady K M, Ormond K E, Topol E J, Schork N J, Bloss Cinnamon S
Department of Genetics, Stanford University School of Medicine, 291 Campus Drive, Stanford, CA, 94305, USA.
Stanford Center for Biomedical Ethics, 1215 Welch Rd, Stanford, CA, 94305, USA.
J Community Genet. 2018 Jul;9(3):217-225. doi: 10.1007/s12687-017-0339-z. Epub 2017 Nov 13.
This study aimed to identify predictors of adverse psychological experiences among direct-to-consumer (DTC) genomic test consumers. We performed a secondary analysis on data from the Scripps Genomic Health Initiative (SGHI), which studied 2037 individuals tested with commercially available tests yielding personalized risk estimates for 23 common, genetically complex diseases. As part of the original study, the participants completed baseline and follow-up survey measures assessing demographics, personal and family health history, attitudes toward genetic testing, anxiety (State-Trait Anxiety Inventory (STAI)), test-related distress (Impact of Event Scale-Revised (IES-R)), and reactions to receipt of results. To further describe the participants who had an adverse psychological outcome, this secondary analysis defined two different variables ("distress response" and "psychologically sensitive participants") and examined their relationship to various demographic variables and other survey responses. One hundred thirty participants (6.4%) were defined as having a "distress response" to receipt of results based on changes in STAI and/or IES. Four hundred thirty-one participants (21.2%) were defined as being "psychologically sensitive" based on high STAI scores both pre- and post-receipt of results. For psychologically sensitive subjects, younger age emerged as a predictor (p < 0.0005). Family history and personal history were only significant predictors for Alzheimer's disease in the psychologically sensitive participants (p = .03) and restless leg syndrome in those with a distress response (p = .03). Psychologically sensitive participants were more likely to indicate a number of pre-test concerns than were controls, but neither group of participants were any more likely to follow up with their physician or a free genetic counseling service after the return of results.
本研究旨在确定直接面向消费者(DTC)的基因检测消费者中不良心理体验的预测因素。我们对斯克里普斯基因组健康倡议(SGHI)的数据进行了二次分析,该倡议研究了2037名接受商业检测的个体,这些检测可为23种常见的、具有遗传复杂性的疾病提供个性化风险评估。作为原始研究的一部分,参与者完成了基线和随访调查,评估人口统计学、个人和家族健康史、对基因检测的态度、焦虑(状态-特质焦虑量表(STAI))、检测相关困扰(事件影响量表修订版(IES-R))以及对结果接收的反应。为了进一步描述有不良心理结果的参与者,本次二次分析定义了两个不同变量(“困扰反应”和“心理敏感参与者”),并研究了它们与各种人口统计学变量及其他调查反应之间的关系。根据STAI和/或IES的变化,130名参与者(6.4%)被定义为对结果接收有“困扰反应”。基于结果接收前后STAI高分,431名参与者(占21.2%)被定义为“心理敏感”。对于心理敏感的受试者,年龄较小是一个预测因素(p<0.0005)。家族史和个人史仅分别是心理敏感参与者中阿尔茨海默病(p=0.03)和有困扰反应者中不安腿综合征(p=0.03)的显著预测因素。心理敏感的参与者比对照组更有可能表示在检测前存在一些担忧,但两组参与者在结果返回后随访医生或免费基因咨询服务的可能性并无差异。