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.

项目概要/摘要 当前的基因组隐私机制（例如去识别化、广泛同意）并不能充分解决 与基因组测试和研究相关的历史上弱势群体的担忧。1-3 这些问题 由于父母关于基因组测试和研究的决定具有潜力，因此在儿科环境中被放大 对儿童整个生命周期的隐私和健康的影响。4,5 我们已经制定了范式转变 在测序时加密基因组数据的软件，为个人提供完全控制 何时、多少、向谁以及多长时间可以访问他们的基因组数据，以支持基因组 为了最有效和公平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、所有权和控制权的各种观点 拟议的项目是一项探索性试点研究，利用了不同的社会人口背景。 对不同人群进行焦点小组、访谈和调查，有两个具体目标：(1) 探索态度 用于临床测试和研究的基因组测序，重点关注基因组数据的偏好 不同父母群体的所有权和控制权，以及 (2) 评估父母对 (a) 静态的偏好 与动态同意模型，(b) 基因组数据的直接管理与间接（代理）管理，以及 (c) 我们将招募来自种族、语言、 反映我们患者人口统计数据的社会经济多元化父母群体（65% 西班牙裔/拉丁裔，5% 非裔美国人，4% 亚裔；74% 参加公共保险）。 捕捉一系列观点和生活经历：（1）父母期待着一个或多个孩子的出生 先天性疾病，(2) 新生儿重症监护室婴儿的父母，(3) 儿童的父母 在遗传学诊所看过的已经接受或正在接受基因检测的人，以及 (4) 健康的父母 未接受基因检测的儿童将完成经过验证的医疗信任度测量。 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。 将使用应用主题分析进行编码和分析，以确定与以下领域相关的主题 将根据参与者的社会人口统计特征和信任程度来评估具体偏好。 这项定性工作对于完善基因组学的概念框架至关重要。 尊重不同家长的关切和优先事项，并将为教育的发展提供信息 将满足不同需求的材料、同意工具和数据管理平台 人群进行基因组临床测试和研究参与，进一步推进我们的长期目标 在所有人群中实现以患者为中心的终身基因组医学。