Better Outcomes for Children: Promoting Excellence in Healthcare Genomics to Inform Policy

为儿童带来更好的结果：促进卓越的医疗基因组学为政策提供信息

• 批准号: 9515026
• 负责人: John Barker Harley
• 金额: $ 85.53万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 财政年份: 2015
• 资助国家: 美国
• 起止时间: 2015-09-01 至 2021-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9515026
• 关键词: Abdominal Aortic Aneurysm; Address; Administrator; Adolescent; Algorithms; Appendicitis; Archives; Attention deficit hyperactivity disorder; Autistic Disorder; Base Sequence; Boston; Budgets; CYP3A5 gene; Caregivers; Caring; Child; Childhood; Chronic Obstructive Airway Disease; Clinical; Code; Collaborations; Collection; Computer software; Computerized Medical Record; Computers; Consent; Costs and Benefits; DNA; DNA Sequence; DNA Sequence Analysis; DNA sequencing; Data; Decision Making; Disease; Dose; Effectiveness; Ehlers-Danlos Syndrome; Electronic Health Record; Electronic Medical Records and Genomics Network; Elements; Ethics; Evaluation; Faculty; Familial Hypercholesterolemia; Fee-for-Service Plans; Fibromyalgia; Foundations; Funding; Gene Targeting; Genes; Genetic; Genetic screening method; Genomic medicine; Genomics; Genotype; Goals; Healthcare; Healthcare Systems; Human Resources; Individual; Informatics; Institution; Investments; Kidney Transplantation; Learning; Legal; Legal Obligations; Letters; Machine Learning; Malignant hyperpyrexia due to anesthesia; Medical Records; Medical center; Migraine; Modification; Mosaicism; Narcotic Addiction; Natural Language Processing; Neonatal Abstinence Syndrome; Outcome; Outcomes Research; Outpatients; PTEN gene; Pain; Parents; Patient Care; Patients; Pediatric Hospitals; Pharmacogenomics; Phenotype; Physicians; Policies; Positioning Attribute; Primary Ciliary Dyskinesias; Process; Productivity; Pyloric Stenosis; Recommendation; Records; Research; Research Infrastructure; Research Institute; Research Personnel; Ritalin; Running; Sampling; Scientist; Sequence Analysis; Series; Site; Tacrolimus; Testing; Textiles; Time; Tonsillectomy; Translating; Variant; Veterans; Work; base; biobank; clinical care; clinical decision support; clinically actionable; cohort; cost; data modeling; data warehouse; database of Genotypes and Phenotypes; design; economic impact; electronic data; ethical legal social implication; follow-up; gene panel; genetic information; genetic variant; genome-wide; genomic variation; health care delivery; health care quality; heuristics; improved; interest; learning strategy; member; next generation sequencing; patient oriented; pleiotropism; preference; primary pulmonary hypertension; programs; public health relevance; response; skills; social; success; support tools; tool; tool development

 DESCRIPTION (provided by applicant): In May 2012 Cincinnati Children's (CCHMC) joined eMERGE II with our Boston Children's partner. Since then we have developed algorithms for the electronic health record (EHR), led the Pediatric Workgroup, developed pharmacogenomics, evaluated the preferences of parents and caregivers to advance genomic medicine and assimilated technical advances into our EHR. The eMERGE effort has become the basic fabric of the institutional initiative to incorporate the extraordinary advances of genetics, genomics and the electronic medical record into healthcare. In addition, we bring a comprehensive EHR (EPIC), operating in every venue for healthcare delivery at CCHMC; a deidentified i2b2 data warehouse of 1.2 million patient records; and a Biobank with 150,000 consents that allow return of results to 38,000 patients and guardians who have provided 58,000 DNA samples, all with consent to return results and i2b2 EHR records. Now, we present our plan to join the eMERGE III network with 17 proposed initiatives. Our eMERGE effort is designed to move an entire institution with our eMERGE III partners into a genomic-EHR era of healthcare implementation and discovery. Our effort is divided into Genomics , Aim 1, where we hope to help the eMERGE III Steering Committee identify the 100 or so genes for the eMERGE III Targeted Gene Panel (eTGP), select our 2,000 CCHMC patients to be sequenced (of the 38,000 in our Biobank), review 4,000 targeted gene panels from clinical care at CCHMC for somatic mosaicism and reinterpretation, and further develop and disseminate a software workflow suite for sequence analysis (CASSI). For Phenotypes, Aim 2, we will extend our work generating EHR phenotype algorithms using heuristic and machine learning methods with a comprehensive set of EHR features derived from data driven algorithms to describe phenotypic pleiotropy of eTGP gene variants. We will develop working collaborations with Patients Care Outcomes Research Institute (PCORI) and the Million Veterans Program by applying eMERGE developed EHR algorithms to these large electronic data warehouses. For Implementation and Evaluation, Aim 3, we will develop tools to evaluate adolescent return of results preferences, examine the ethical and legal obligations and potential to reanalyze results, analyze the cost of tacrolimus management of kidney transplant with and without CYP3A5 testing, develop clinical decision support for phenotyping, test ordering, and returning eTGP results. Our success in these eMERGE III studies will be enhanced by the ongoing institutional investments made in the CCHMC BioBank, the comprehensive EHR (EPIC), and the i2b2 deidentified medical record data warehouse, and hundreds of Faculty and senior staff who make genomics or informatics an active focus of their research. We present a comprehensive program addressing all of the salient elements presented in the RFP for eMERGE III (HG-14-025) to enhance our collaborative productivity within the eMERGE Network in ways that ultimately improve our healthcare systems through discovery, implementation, and advanced applications of genomics and informatics.

 描述（由申请人提供）： 2012 年 5 月，辛辛那提儿童医院 (CCHMC) 与我们的波士顿儿童医院合作伙伴一起加入了 eMERGE II。从那时起，我们开发了电子健康记录 (EHR) 算法，领导儿科工作组，开发药物基因组学，评估父母和护理人员的偏好以推进基因组医学，并将技术进步融入我们的 EHR。 eMERGE 的努力已成为该机构倡议的基本结构，该倡议融合了遗传学、基因组学和生物医学领域的非凡进展。 将电子病历纳入医疗保健领域。此外，我们还配备了全面的 EHR (EPIC)，在 CCHMC 的每个医疗保健提供场所运行；包含 120 万条患者记录的去识别化 i2b2 数据仓库；拥有 150,000 份同意的生物银行，允许将结果返回给提供了 58,000 个 DNA 样本的 38,000 名患者和监护人，所有这些都同意返回结果和 i2b2 EHR 记录。现在，我们提出加入 eMERGE III 网络的计划，其中包含 17 项拟议举措。我们的 eMERGE 努力旨在将整个机构与我们的 eMERGE III 合作伙伴一起带入医疗保健实施和发现的基因组 EHR 时代。我们的工作分为基因组学，目标 1，我们希望帮助 eMERGE III 指导委员会确定 eMERGE III 靶向基因组 (eTGP) 的 100 个左右基因，选择我们的 2,000 名 CCHMC 患者进行测序（我们的生物库中有 38,000 名患者），审查来自 CCHMC 临床护理的 4,000 个靶向基因组以进行体细胞嵌合和重新解释，并进一步开发和重新解释 CCHMC 患者的基因组。传播 用于序列分析的软件工作流程套件 (CASSI)。对于表型，目标 2，我们将使用启发式和机器学习方法扩展生成 EHR 表型算法的工作，并使用从数据驱动算法派生的一组全面的 EHR 特征来描述 eTGP 基因变体的表型多效性。我们将通过将 eMERGE 开发的 EHR 算法应用于这些大型电子数据仓库，与患者护理结果研究所 (PCORI) 和百万退伍军人计划开展合作。对于目标 3 的实施和评估，我们将开发工具来评估青少年返回的结果偏好，检查伦理和法律义务以及重新分析结果的潜力，分析有或没有 CYP3A5 测试的肾移植他克莫司管理的成本，为表型、测试顺序和返回 eTGP 结果开发临床决策支持。我们在这些 eMERGE III 研究中的成功将通过对 CCHMC BioBank、综合 EHR (EPIC) 和 i2b2 去身份化医疗记录数据仓库的持续机构投资，以及数百名将基因组学或信息学作为研究重点的教职人员和高级工作人员来加强。我们提出了一项全面的计划，解决 eMERGE III (HG-14-025) RFP 中提出的所有重要要素，以提高我们在 eMERGE 网络内的协作生产力，最终通过基因组学和信息学的发现、实施和高级应用来改善我们的医疗保健系统。