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

基本信息

批准号：
9901995
负责人：
John Barker Harley
金额：
$ 74.28万
依托单位：
CINCINNATI CHILDRENS HOSP MED CTR
依托单位国家：
美国
项目类别：
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/9901995
关键词：
Abdominal Aortic Aneurysm Address Administrator Adolescent Algorithms Appendicitis Archives Attention deficit hyperactivity 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 Genes Genetic Genetic screening method Genomic medicine Genomics Genotype Goals Healthcare Healthcare Systems Human Resources Individual Informatics Infrastructure 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 Institute Research Personnel Ritalin Running Sampling Scientist Sequence Analysis Series Site Tacrolimus Testing Textiles Time Tonsillectomy Translating Variant Veterans Work autism spectrum disorder 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 targeted sequencing tool tool development

项目摘要

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（由适用提供）：2012年5月，辛辛那提儿童（CCHMC）与我们的波士顿儿童伙伴一起加入了Emerge II。从那时起，我们开发了电子健康记录（EHR）的算法，领导了儿科工作组开发的药物，并评估了父母和看护者促进基因组医学并吸收的技术进步的偏好。出现的努力已成为机构倡议的基本结构，纳入了遗传学，基因组学和电子病历进入医疗保健。此外，我们还带来了全面的EHR（EPIC），在CCHMC的每个场所进行医疗保健服务；一个由120万例患者记录的I2B2数据仓库；还有150,000份同意书的生物库，允许提供58,000个DNA样本的38,000名患者和监护人，所有这些患者和监护人都同意返回结果和I2B2 EHR记录。现在，我们介绍了我们的计划，即通过17项拟议的计划加入Emerge III网络。我们出现的努力旨在将整个机构与我们的III合作伙伴一起转移到医疗保健实施和发现的基因组时代。我们的努力分为基因组学，目的1，我们希望在其中帮助出现的III指导委员会确定靶向基因面板（ETGP）的100个左右基因（ETGP），选择我们的2,000名CCHMC患者（在我们的生物库克中的38,000名CCHMC患者），以审查4,000个针对性的基因planine and somatient and somatient and somatient and somatient and somatient and somatient and somatient and somatient and somatic and cchmc cchmc cchmc cchmc cchmc，并将其进一步介绍。用于序列分析的软件工作流套件（CASSI）。对于表型，AIM 2，我们将使用启发式和机器学习方法扩展我们的工作生成EHR表型算法，并具有从数据驱动的算法中得出的一组全面的EHR特征，以描述ETGP基因变体的表型多效率。我们将通过应用Emerge开发的EHR算法在这些大型电子数据仓库中开发了EHR算法，与患者护理结果研究所（PCORI）和百万退伍军人计划开发合作。对于实施和评估，AIM 3，我们将开发工具来评估成果偏好的青少年回报，检查伦理和法律义务以及重新分析结果的潜力，分析有或不进行CYP3A5测试的肾脏移植的他克莫司的成本，并开发出对表型，测试订购，以及返回ETGP结果的临床决策支持。在CCHMC BioBank，综合EHR（EPIC）和I2B2识别的医疗记录数据仓库以及数百名教职员工和高级员工中，我们在这些出现的III研究中的成功将得到增强，以及使基因组学或信息的积极焦点成为其研究的重点。我们提出了一项全面的计划，涉及Emerge III（HG-14-025）中RFP中提出的所有显着因素，以通过发现，实施，实施和高级基因组学和信息信息来改善我们在Emerge网络中的协作生产力。