Human Subjects and Clinical Phenotyping Core

项目摘要/摘要-人类受试者和临床表型核心 人类受试者和临床表型(HSCP)核心将为研究人员提供完整的 一系列服务，以促进成功识别和招募基础、临床和 风湿病的翻译研究。该中心将简化临床研究基础设施， 包括研究设计、研究伦理咨询、患者招募、临床信息学和疾病 专业知识，以推进风湿病的精准医学。我们为HSCP提出了以下目标 核心：1)就人体受试者研究设计、数据收集、结果测量和 风湿病基础、临床和转化性研究的研究伦理；2)促进 为研究研究确定人类临床表型，利用国家之间的合作 公认的疾病专家和临床信息学家；3)提供最先进的数据检索和 管理资源，包括建立启用电子健康记录的登记处；以及4) 协调并为人类学科招募和生物标本收集提供资源。前进 风湿性疾病的精确医学将需要以患者为中心的方法，优化协调 这些跨项目的高度专业化的资源。核心的主要优势包括享誉国际的 风湿病临床专家，临床研究和临床信息学的国家领导者，专业知识 人类受试者的研究道德，以及在纳入高危和多样化患者方面的独特专业知识 人口，包括种族/族裔少数群体和社会经济地位较低者。HSCP核心服务 解决研究风湿病的研究界目前面临的一些挑战。这些 包括考虑到疾病的极端异质性，需要高度准确的临床表型。 风湿性疾病的表现，如系统性红斑狼疮、血管炎、硬皮病和 其他；需要更有效地识别和招募患者进行临床研究，特别是那些 罕见或罕见疾病或临床表型；以及目前缺乏研究协调 正在进行的研究中的基础设施，导致患者招募、数据收集和数据效率低下 管理层。HSCP核心的创新包括利用强大的现有临床信息学 基础设施，弥合大量积累的临床数据和个人之间的鸿沟 对风湿病的特定临床表型感兴趣的研究人员；质疑来自 使用专门方法建立登记处的电子健康记录；以及在 调查人员和资源。这些活动的总体目标是提供关键和前沿 为研究人员创造规模经济的资源，在 风湿病。

PROJECT SUMMARY/ABSTRACT – Human Subjects and Clinical Phenotyping Core The Human Subjects and Clinical Phenotyping (HSCP) Core will provide researchers with access to a full range of services to facilitate successful identification and recruitment of human subjects for basic, clinical and translational research studies in rheumatic diseases. The Core will streamline clinical research infrastructure, including study design, research ethics consultation, patient recruitment, clinical informatics and disease expertise, to advance precision medicine in rheumatic disease. We propose the following Aims for the HSCP Core: 1) To provide consultation on human subjects study design, data collection, outcome measures, and research ethics for basic, clinical and translational research studies of rheumatic disease; 2) To facilitate identification of human clinical phenotypes for research studies, leveraging collaborations between nationally recognized disease experts and clinical informaticists; 3) To offer state-of-the art data retrieval and management resources, including construction of electronic health record-enabled registries; and 4) To coordinate and provide resources for human subject recruitment and biospecimen collection. Advancing precision medicine in rheumatic diseases will require a patient-oriented approach that optimizes coordination of these highly specialized resources across projects. Key strengths of the Core include internationally renowned clinical experts in rheumatology, national leaders in clinical research and clinical informatics, expertise in human subjects research ethics, and unique expertise in including patients from high-risk and diverse populations, including racial/ethnic minorities and those with low socioeconomic status. HSCP Core services address some of the current challenges facing the research community studying rheumatic diseases. These include the need for highly accurate clinical phenotyping given the extreme heterogeneity of disease manifestations in rheumatic diseases such as systemic lupus erythematosus, vasculitis, scleroderma and others; the need to more efficiently identify and recruit patients for clinical studies, particularly those with uncommon or rare diseases or clinical phenotypes; and the current lack of coordination of research infrastructure across ongoing studies, leading to inefficiencies in patient recruitment, data collection, and data management. Innovations of the HSCP Core include leveraging robust existing clinical informatics infrastructure to bridge the divide between the vast amount of accumulating clinical data and individual investigators who are interested in specific clinical phenotypes of rheumatic diseases; querying “big data” from electronic health records to construct registries using specialized methods; and “match-making” between investigators and resources. The overall goal of these activities is to provide critical and cutting edge resources that create economies of scale for researchers conducting human subjects research in the rheumatic diseases.