Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA.
Sanford Imagenetics, Sioux Falls, SD; Department of Genetic Counseling, Augustana University, Sioux Falls, SD.
Genet Med. 2024 Oct;26(10):101200. doi: 10.1016/j.gim.2024.101200. Epub 2024 Jun 26.
Elective genomic testing (EGT) is increasingly available clinically. Limited real-world evidence exists about attitudes and knowledge of EGT recipients.
After web-based education, patients who enrolled in an EGT program at a rural nonprofit health care system completed a survey that assessed attitudes, knowledge, and risk perceptions.
From August 2020 to April 2022, 5920 patients completed the survey and received testing. Patients most frequently cited interest in learning their personal disease risks as their primary motivation. Patients most often expected results to guide medication management (74.0%), prevent future disease (70.4%), and provide information about risks to offspring (65.4%). Patients were "very concerned" most frequently about the privacy of genetic information (19.8%) and how well testing predicted disease risks (18.0%). On average, patients answered 6.7 of 11 knowledge items correctly (61.3%). They more often rated their risks for colon and breast cancers as lower rather than higher than the average person but more often rated their risk for a heart attack as higher rather than lower than the average person (all P < .001).
Patients pursued EGT because of the utility expectations but often misunderstood the test's capabilities.
选择性基因组检测（EGT）在临床上的应用越来越广泛。关于 EGT 接受者的态度和知识，实际证据有限。
在进行了基于网络的教育之后，在农村非营利性医疗保健系统中参加 EGT 计划的患者完成了一项调查，该调查评估了他们的态度、知识和风险认知。
2020 年 8 月至 2022 年 4 月，共有 5920 名患者完成了调查并接受了检测。患者最常提到的主要动机是对了解个人疾病风险的兴趣。患者最常期望检测结果能够指导药物管理（74.0%）、预防未来疾病（70.4%）以及提供有关后代风险的信息（65.4%）。患者最常“非常关注”遗传信息的隐私问题（19.8%）和检测对疾病风险预测的准确性（18.0%）。平均而言，患者答对了 11 个知识项目中的 6.7 个（61.3%）。他们经常认为自己患结肠癌和乳腺癌的风险低于一般人，但更常认为自己患心脏病的风险高于一般人（均<0.001）。
患者因为期望检测有实用价值而进行 EGT，但他们往往对检测的能力存在误解。
