Institute for Memory Impairments and Neurological Disorders.
Departments of Statistics.
Alzheimer Dis Assoc Disord. 2021;35(2):141-147. doi: 10.1097/WAD.0000000000000421.
The apolipoprotein E (APOE) gene is the strongest known genetic risk factor for sporadic Alzheimer disease (AD). APOE can be used as an enrichment strategy or inclusion criterion for AD prevention trials. Personal genomics companies market direct-to-consumer (DTC) genetic tests, including APOE. We assessed DTC APOE testing usage among enrollees of the University of California Irvine Consent-to-Contact Registry, an online recruitment registry, and attitudes toward using this information in clinical trial recruitment.
We emailed links to an electronic survey to registry enrollees age 50 years or older. We assessed participants' use of DTC services, willingness to learn APOE status, and willingness to share genetic information. Logistic regression models assessed relationships between DTC testing usage and demographic characteristics, and with willingness to share results to assist trial recruitment.
Among 1312 responders (57% response rate), few (7%) had used DTC testing for APOE. Non-Hispanic Asian enrollees were 93% less likely to have used DTC testing, compared with non-Hispanic Whites [95% confidence interval: (0.01, 0.67)]. Willingness to share APOE information for study recruitment was >90% for both users and nonusers.
Matching participants to trials on the basis of DTC APOE information may be an effective way to streamline AD prevention trial recruitment.
载脂蛋白 E（APOE）基因是散发性阿尔茨海默病（AD）最强的已知遗传风险因素。APOE 可以作为 AD 预防试验的富集策略或纳入标准。直接面向消费者（DTC）的基因检测公司，包括 APOE 基因检测，正在向消费者推广。我们评估了加利福尼亚大学欧文分校同意接触登记处（UCI 同意接触登记处）的参与者中 DTC APOE 检测的使用情况，UCI 同意接触登记处是一个在线招募登记处，并评估了参与者对在临床试验招募中使用这些信息的态度。
我们向年龄在 50 岁及以上的登记处参与者发送了电子调查链接。我们评估了参与者使用 DTC 服务的情况、了解 APOE 状态的意愿，以及分享遗传信息的意愿。逻辑回归模型评估了 DTC 检测使用情况与人口统计学特征之间的关系，以及与愿意分享结果以协助试验招募的关系。
在 1312 名回应者（57%的回应率）中，很少有人（7%）使用 DTC 检测 APOE。与非西班牙裔白人相比，非西班牙裔亚裔参与者使用 DTC 检测的可能性低 93%（95%置信区间：0.01，0.67）。无论是使用者还是非使用者，愿意为研究招募分享 APOE 信息的比例都超过 90%。
根据 DTC APOE 信息将参与者与试验匹配可能是简化 AD 预防试验招募的有效方法。
