Institute for Public Health Genetics, University of Washington, Seattle, Washington, USA,
Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.
Public Health Genomics. 2023;26(1):113-122. doi: 10.1159/000531989. Epub 2023 Aug 21.
Genetic screening for preventable adult-onset hereditary conditions has been proposed as a mechanism to reduce health disparities. Analysis of how race and ethnicity influence decision-making to receive screening can inform recruitment efforts and more equitable population screening design. A study at the University of Washington Medicine that invited unselected patients to participate in genetic screening for pathogenic variation in medically important genes provided an opportunity to evaluate these factors.
We analyzed screening enrollee survey data to understand factors most important and least important in decision-making about screening overall and across different race and ethnicity groups. Electronic health record race and ethnicity and survey-reported race and ethnicity were compared to assist with interpretation. Comments provided about reasons for not enrolling in screening were analyzed using content analysis.
Overall, learning about disease risk and identifying risk early for prevention purposes were important factors in decision-making to receive screening, and regrets about screening and screening being against one's moral code were not viewed as important. Although racial identity was challenging to assign in all cases, compared to other enrollees, African-American and Asian enrollees considered test accuracy and knowing more about the test to be of greater importance. Three themes emerged related to nonparticipation: benefits do not outweigh risks, don't want to know, and challenges with study logistics.
Our results highlight important motivators for receiving screening and areas that can be addressed to increase screening interest and accessibility. This knowledge can inform future population screening program design including recruitment and education approaches.
预防成人发病的遗传性疾病的基因筛查已被提议作为减少健康差距的一种机制。分析种族和民族如何影响接受筛查的决策，可以为招募工作和更公平的人群筛查设计提供信息。华盛顿大学医学中心的一项研究邀请未选择的患者参与医学上重要基因的致病性变异基因筛查，为评估这些因素提供了机会。
我们分析了筛查参与者的调查数据，以了解在决定接受筛查方面总体和不同种族和民族群体中最重要和最不重要的因素。电子健康记录中的种族和民族以及调查报告的种族和民族进行了比较，以协助解释。关于不参加筛查的原因提供的评论使用内容分析进行了分析。
总体而言，了解疾病风险和出于预防目的尽早识别风险是决定接受筛查的重要因素，而对筛查的遗憾和筛查违反自己的道德规范并不被视为重要因素。虽然在所有情况下都难以确定种族身份，但与其他参与者相比，非裔美国人和亚裔参与者认为测试准确性和更多地了解测试更为重要。与不参与相关的三个主题出现：收益不超过风险、不想知道、以及研究后勤方面的挑战。
我们的结果强调了接受筛查的重要动机和可以解决的领域，以增加筛查的兴趣和可及性。这些知识可以为未来的人群筛查计划设计提供信息，包括招募和教育方法。
