Framework to Accelerate Substance Use Disorder Genetic Studies through Customizable, EHR-Based Precision Phenotyping

通过可定制、基于 EHR 的精确表型分析加速药物滥用遗传研究的框架

• 批准号: 10670983
• 负责人: Alvin Dean Jeffery
• 金额: $ 47.55万
• 依托单位: VANDERBILT UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-01 至 2027-07-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10670983
• 关键词: Acceleration; Alcohols; Basic Science; Biological; Clinical Decision Support Systems; Clinical Research; Code; Complex; Computer software; Data; Data Sources; Development; Disease; Disease Management; Drug usage; Electronic Health Record; Genetic; Genetic study; Goals; Individual; Intervention; Knowledge; Label; Link; Methods; National Institute of Drug Abuse; Neurobiology; Opioid; Outcome; Pharmaceutical Preparations; Phenotype; Prevention; Public Health; Research; Research Personnel; Services; Specific qualifier value; Substance Use Disorder; System; Text; Tobacco; Variant; Work; clinical care; cost; disorder prevention; graphical user interface; heuristics; innovation; large datasets; novel; polygenic risk score; poor health outcome; portability; preventive intervention; prospective; substance use treatment

Project Summary/Abstract There is a critical need for accurate, efficient, and portable substance use disorder (SUD) identification methods that support large-scale genetic studies in uncovering biological mechanisms helpful in SUD prevention and management. The long-term goal of this work is to support genetic discovery efforts that result in beneficial interventions for prevention and treatment of SUD. The overall objective in this proposal is to develop and evaluate an SUD phenotyping method that allows investigators to fine-tune phenotypes for their specific projects. Given most large-scale SUD phenotyping for genetics studies have relied on administrative billing codes (that undercount true cases) and binary outcome labels (that induce arbitrary dichotomization), the rationale for this project is that a system which includes a variety of data sources and generates a probabilistic outcome along a continuum is needed. The SUD phenotyping framework will support the inclusion of heterogenous electronic health record data types (including administrative billing codes, medication information, and unstructured text data) and will be evaluated in multiple organizations. Pairing these SUD phenotypes with genetic data will enhance our understanding of SUD mechanisms among individuals. That foundational work could ultimately result in the development of polygenic risk scores and clinical decision support systems that we could implement prospectively in clinical care. The proposed research is significant because researchers have a pressing need for SUD phenotyping approaches that can be customized to their research focus and available data. This proposal’s innovation lies in the creation of a “self-service” approach to SUD phenotype development in which a research team can specify their own phenotype definitions. The software will have a graphical user interface that makes the highest-yield rules/heuristics the easiest to use and can therefore be used by investigators with basic scientific programming knowledge. Through the activities outlined above, this innovation will directly accelerate genetic studies of SUD while simultaneously developing a precision phenotyping framework that can be applied to other disease domains.

项目摘要/摘要 迫切需要准确、高效和便携的物质使用障碍(Sud)识别。 支持大规模遗传学研究的方法，以揭示有助于SUD的生物学机制 预防和管理。这项工作的长期目标是支持基因发现的努力 在预防和治疗SUD的有益干预中。这项提案的总体目标是 开发和评估一种允许研究人员微调他们的表型的SUD表型方法 具体项目。鉴于大多数用于遗传学研究的大规模SUD表型分析都依赖于行政管理 帐单代码(低估真实情况)和二元结果标签(导致任意二分法)， 这个项目的基本原理是，一个包括各种数据源并生成 一个连续体的概率结果是必需的。SUD表型框架将支持纳入 异类电子健康记录数据类型(包括管理帐单代码、用药 信息和非结构化文本数据)，并将在多个组织进行评价。将这些Sud配对 具有遗传数据的表型将加强我们对个体间的SUD机制的理解。那 基础工作可能最终导致多基因风险评分和临床决策的发展 我们可以在临床护理中实施的支持系统。这项拟议的研究具有重要意义 因为研究人员迫切需要可以根据他们的需求定制的sud表型分析方法 研究重点和现有数据。这一建议的创新之处在于创建了一种“自助式”方法来 一个研究团队可以指定他们自己的表型定义的SUD表型发展。这个 软件将有一个图形用户界面，使最高收益的规则/启发式方法最容易使用 因此可供具有基本科学编程知识的调查人员使用。通过活动 如上所述，这一创新将在发展的同时，直接加快对sud的基因研究。 一种可应用于其他疾病领域的精确表型框架。