Linking Direct to Consumer Genomics and Electronic Health Records to Accelerate Science

直接连接消费者基因组学和电子健康记录以加速科学发展

• 批准号: 10195133
• 负责人: Laura J. Bierut
• 金额: $ 23.63万
• 依托单位: WASHINGTON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-09-15 至 2023-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10195133
• 关键词: Address; Adult; Advertising; Alcohol consumption; Alcohols; Appointment; Caring; Chronic Obstructive Airway Disease; Clinical and Translational Science Awards; Complement; Complex; Consumption; Data; Data Set; Databases; Development; Disease; Electronic Health Record; Future; Genetic; Genetic Diseases; Genetic Research; Genetic study; Genomics; Genotype; Goals; Health; Health trends; Healthcare; Healthcare Systems; Heart Diseases; Individual; Informed Consent; Infrastructure; Institution; Interview; Link; Lung diseases; Malignant Neoplasms; Malignant neoplasm of lung; Medical; Missouri; Modeling; National Institute of Drug Abuse; Nicotine; Outcome; Participant; Patient Care; Patient Recruitments; Patients; Performance; Persons; Phenotype; Population; Prize; Protocols documentation; Provider; Public Health; Questionnaires; Research; Research Personnel; Research Project Grants; Resources; Risk; Sample Size; Sampling; Schedule; Science; Smoking; System; Testing; Thinking; Time; Translations; United States National Institutes of Health; Update; Work; addiction; base; citizen science; cohort; community engagement; cost; cost effective; data repository; data resource; data warehouse; design; eligible participant; experience; follow-up; genome wide association study; genome-wide; genomic data; innovation; interest; mobile computing; novel; novel strategies; polygenic risk score; programs; prototype; recruit; repository; risk prediction; smartphone Application; social media; substance use; tool; trait

Abstract Very large sample sizes are needed in genetic studies of complex traits and medical illnesses, and collecting such samples is expensive and time intensive. To accelerate complex genetic discovery and translation, it is critical to harness existing data quickly and efficiently. The goal of our proposal is to implement a novel and scalable online/mobile recruitment paradigm to harness the vast amount of genomic data generated through direct-to-consumer testing and to link these data to a research data warehouse containing electronic health record (EHR) information from the BJC Healthcare System. We will accomplish our goal in three aims: 1) Finalize online/mobile tools for recruiting consumer genomics customers who also are patients from the BJC Healthcare system. We have designed an online/mobile approach that enables participants to provide us with informed consent, their individual-level 23andMe genome-wide genotypes, and the key information required to link their genomic data to their research based EHR data. 2) Recruit a cohort of 23andMe customers who are also patients from the BJC Healthcare system to build a database linking their genotypes and EHR. We aim to recruit 10,000 participants by year 2, based on the size of the 23andMe sampling base, the size of the BJC Healthcare population, and the eligible participants we have already identified. 3) Building on our previous work, we will evaluate the performance of polygenic risk scores (PRS) for substance use phenotypes to predict health outcomes such as heart disease, COPD, lung cancer, and related traits. These analyses will be a proof of principle to test of the value of this database. Our electronic recruitment strategy can be easily adapted to recruitment for a variety of studies, and we will share our recruitment tools and details of our repository infrastructure with research institutions through the network developed as part of NIH Clinical and Translational Sciences Awards. It is critical that moving forward we make more efficient use of research resources, focusing on establishing data resources that can be used repeatedly in the future as opposed to recruiting participants to answer a single research question. By integrating online recruitment, existing genomic data, and research based electronic health records in a novel approach, our recruitment paradigm can rapidly attain the large cohorts needed for complex disease genetics research in a cost-effective manner. This approach will enable researchers to effectively target emerging health trends and research needs quickly and efficiently, and this approach complements the large-scale efforts underway such as All of Us.

摘要 在复杂性状和医学疾病的遗传学研究中需要非常大的样本量， 这样的样品是昂贵的和耗时的。为了加速复杂的基因发现和翻译， 快速有效地利用现有数据至关重要。我们提案的目标是实施一项新的， 可扩展的在线/移动的招募模式，以利用通过 直接面向消费者的测试，并将这些数据链接到包含电子健康的研究数据仓库 从BJC医疗保健系统记录（EHR）信息。我们将通过三个目标来实现我们的目标：1） 最终确定在线/移动的工具，用于招募同时也是BJC患者的消费者基因组学客户 医疗系统。我们设计了一种在线/移动的方法，使参与者能够向我们提供 知情同意，他们的个人水平的23andMe全基因组基因型，以及所需的关键信息， 将他们的基因组数据与他们基于研究的EHR数据联系起来。2)招募一批23andMe客户， 也从BJC医疗系统的患者建立一个数据库连接他们的基因型和EHR。我们的目标是 根据23andMe抽样基数的大小、BJC的大小，在第2年招募10，000名参与者 医疗保健人群，以及我们已经确定的合格参与者。3)基于我们之前的 工作，我们将评估多基因风险评分（PRS）的物质使用表型的性能，以预测 健康结果，如心脏病、COPD、肺癌和相关特征。这些分析将证明 的原则，以测试该数据库的价值。我们的电子招聘策略可以很容易地适应 招聘的各种研究，我们将分享我们的招聘工具和我们的存储库的详细信息 基础设施与研究机构通过网络开发的一部分，NIH临床和转化 科学奖。 至关重要的是，我们要更有效地利用研究资源，重点是建立 数据资源，可以在未来重复使用，而不是招募参与者回答一个 单一的研究问题。通过整合在线招聘、现有基因组数据和基于 电子健康记录在一个新的方法，我们的招聘模式可以迅速获得大的队列 以具有成本效益的方式进行复杂疾病遗传学研究所需的。这种做法将使 研究人员有效地针对新兴的健康趋势和研究需求迅速，有效地，这 这种方法补充了正在进行的大规模努力，如我们所有人。