Exploring parental perspectives on pediatric genome testing, research, and data management in a multicultural population

探索多元文化人群中家长对儿科基因组测试、研究和数据管理的看法

• 批准号: 10667281
• 负责人: Sabrina Derrington
• 金额: $ 47.03万
• 依托单位: CHILDREN'S HOSPITAL OF LOS ANGELES
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-11 至 2025-08-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10667281
• 关键词: Address; Adolescent; African American; Algorithms; Asian; Attitude; Birth; Characteristics; Child; Childhood; Clinic; Clinical; Clinical Research; Code; Computer software; Consent; Critical Care; Data; Decision Making; Development; Disparity population; Educational Materials; Equity; Ethnic Origin; Focus Groups; Genetic; Genetic Databases; Genome; Genomic medicine; Genomics; Goals; Health; Hispanic; Individual; Infant; Institution; Interview; Knowledge; Latino; Light; Linguistics; Longevity; Measures; Medical; Medical Research; Modeling; Multivariate Analysis; Newborn Infant; Outcome; Ownership; Parents; Participant; Patients; Pediatrics; Pilot Projects; Population; Population Heterogeneity; Privacy; Proxy; Research; Research Personnel; Surveys; Technology; Testing; Time; Transcript; Trust; Underserved Population; Work; data management; data privacy; demographics; distrust; encryption; ethnic disparity; experience; genetic testing; genome sequencing; genomic data; health inequalities; health literacy; interest; patient oriented; preference; racial disparity; recruit; research clinical testing; satisfaction; sociodemographic variables; sociodemographics; socioeconomics; tool

Project Summary/Abstract Current genomic privacy mechanisms (e.g., de-identification, broad consent) do not adequately address the concerns of historically disadvantaged populations related to genomic testing and research.1-3 These issues are amplified in pediatric contexts as parental decisions about genomic testing and research have potential impact on children’s privacy and health over their entire lifespan.4,5 We have developed paradigm-shifting software that encrypts genomic data at the time of sequencing, providing complete control to the individual over when, how much, to whom and for how long their genomic data can be accessed, in support of genomic dignity. In order to most effectively and equitably deploy this technology in pediatrics, we need to understand the range of perspectives on genomic data privacy, ownership, and control held by parents from diverse sociodemographic backgrounds. The proposed project is an exploratory pilot study utilizing focus groups, interviews, and a survey in a diverse population, with two specific aims: (1) Explore attitudes towards genome sequencing for clinical testing and research with a focus on preferences for genomic data ownership and control in a diverse population of parents, and (2) evaluate parent preferences for (a) static versus dynamic consent models, (b) direct versus indirect (proxy) management of genomic data, and (c) decision-making involvement of children and adolescents. We will recruit an ethnically, linguistically, socioeconomically diverse group of parents reflective of our patient demographics (65% Hispanic/Latino, 5% African American, 4% Asian; 74% publicly insured). Recruitment will take place in 4 clinical contexts in order to capture a range of perspectives and lived experiences: (1) parents expecting the birth of a child with 1 or more congenital conditions, (2) parents of infants in the Newborn Infant Critical Care Unit, (3) parents of children seen in the genetics clinic who have undergone or are undergoing genetic testing, and (4) parents of healthy children who have not undergone genetic testing. Parents will complete a validated measure of trust in medical researchers and will participate in focus group discussions and interviews in English and Spanish. Transcripts will be coded and analyzed using applied thematic analysis to identify themes pertaining to the domains of interest. Specific preferences will be assessed in light of participant sociodemographics and levels of trust in medical researchers. This qualitative work is essential to refine the conceptual framework of genomic dignity to center diverse parents’ concerns and priorities, and will inform development of educational materials, consent tools, and data management platforms that will meet the needs of diverse populations for genomic clinical testing and research participation, furthering our long-term goal to enable lifelong patient-centered genomic medicine in all populations.

项目摘要/摘要 当前的基因组隐私机制（例如，取消身份，广泛的同意）不能充分解决 对与基因组测试和研究有关的历史扰动人群的关注。1-3这些问题 在儿科环境中被放大，因为父母关于基因组测试的决策和研究具有潜在的潜力 在整个寿命中对儿童隐私和健康的影响。4,5我们开发了范式变化 在测序时加密基因组数据的软件，为个人提供完全控制 在支持基因组的何时，向谁，向谁和多长时间访问其基因组数据的时间 尊严。为了最有效，最有效地在儿科中部署这项技术，我们需要 了解父母对基因组数据隐私，所有权和控制的看法范围 来自潜水员的社会人口统计学背景。拟议的项目是一项探索性试点研究 焦点小组，访谈和对潜水员人口的调查，有两个具体的目标：（1）探索与会者 进行基因组测序进行临床测试和研究，重点是基因组数据的偏好 父母的潜水者人口的所有权和控制，（2）评估（a）静态的父母偏好 与动态同意模型，（b）基因组数据的直接与间接（代理）管理和（c） 儿童和青少年的决策参与。我们将以义态，语言招募， 社会经济多样化的父母反映了我们的患者人口统计学（65％的西班牙裔/拉丁裔，5％ 非裔美国人，亚洲4％； 74％的公开保险）。招聘将在4个临床环境中进行 捕捉一系列观点和生活经验：（1）父母期望一个或以上的孩子的诞生 先天性状况，（2）新生婴儿重症监护室的婴儿父母，（3）儿童父母 在经历或正在接受基因检测的遗传学诊所中可见，（4）健康的父母 没有经过基因检测的孩子。父母将完成对医疗信任的验证措施 研究人员并将参加英语和西班牙语的焦点小组讨论和访谈。成绩单 将使用应用主题分析对其进行编码和分析，以识别与 兴趣。根据参与的社会人口统计学和信任水平，将评估具体的偏好 医学研究人员。这项定性工作对于完善基因组的概念框架至关重要 尊严地将潜水员的父母的关注和优先事项为中心，并将为教育发展提供信息 材料，同意工具和数据管理平台，这些平台将满足潜水员的需求 基因组临床测试和研究参与的人群，将我们的长期目标推向 在所有人群中启用终身以患者为中心的基因组医学。