Better Outcomes for Children: GWAS & PheWAS in eMERGEII.

为儿童带来更好的结果：GWAS

• 批准号: 8516741
• 负责人: John Barker Harley
• 金额: $ 58.68万
• 依托单位: CINCINNATI CHILDRENS HOSP MED CTR
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-05-15 至 2015-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8516741
• 关键词: Address; Advocate; Algorithms; Attitude; Beneficence; Bioinformatics; Biological; Biological Preservation; Biology; Boston; CYP2D6 gene; Caregivers; Caring; Certification; Child; Child Care; Child Welfare; Child health care; Childhood; Client satisfaction; Clinical Data; Clinical Research; Commit; Computerized Medical Record; Confidentiality; Consensus; Control Groups; DNA; Data; Databases; Development; Education; Ensure; Ethical Issues; Ethics; Faculty; Genes; Genome; Genomics; Genotype; Goals; Health; Healthcare; Incidental Findings; Individual; Informatics; Inpatients; Institution; Investments; Learning; Letters; Link; Medical Records; Medical center; Methods; Mission; Modeling; Outcome; Outpatients; Parents; Participant; Patient Care; Patients; Pediatric Hospitals; Perception; Pharmacogenetics; Phase; Phenotype; Privacy; Procedures; Process; Productivity; Provider; Research; Research Infrastructure; Resources; Sampling; Site; Specimen; Standardization; System; Technology; Time; Visit; base; biobank; care delivery; clinical care; clinically relevant; cohort; data sharing; database of Genotypes and Phenotypes; genome wide association study; improved; innovation; instrument; interest; novel; patient expectation; phenome; practical application; programs; response; tool

DESCRIPTION (provided by applicant): Cincinnati Children's Hospital Medical Center (CCHMC) and Children's Hospital Boston (CHB) propose that the Pediatric Alliance for Genomic and Electronic Medical Record (EMR) Research (PAGER) becomes a site for the eMERGE Phase II network for pediatric institutions (RFA HG 11-022). We plan a sustained, scalable effort to inform and improve the care of the individual child using relevant genome and phenome wide association study (GWAS & PheWAS) data. The extraordinary faculty and informatics infrastructure of CCHMC & CHB has implemented center-wide healthcare tools to "instrument the enterprise for genomic discovery" based on the i2b2 (Informatics for Integrating Biology and the Bedside) platform. The PAGER i2b2 databases contain 2.5 million EMRs (all inpatient and outpatient visits) and grow by >100,000 new patients per year. The i2b2 data are uploaded from the Epic EMR and Cerner EMR, transformed, de-identified, augmented with research and legacy clinical data, and linked to the PAGER biorepositories and GWAS data. In addition, both institutions are in the process of implementing ambitious biorepositories that now contain >15,000 samples and will grow at >30,000 DNA specimens per year from children with i2b2 medical records. In Aim 1 we will build on our i2b2 infrastructure to develop SHRINE, which will allow phenotypic standardization and data sharing across eMERGE II. In Aim 2 we will contribute 6,861 cases that have EMRs, DNA, GWAS data, and institutional certification for submission to dbGaP, as well as a path to return results. Many colleagues in the academic faculties at both CHB and CCHMC are advocates for phenotypes of their scholarly interest, providing a multitude of possibilities for phenotype algorithm development and application of GWAS and PheWAS for the eMERGE II network. We will contribute to and explore the previous and new phenotypes selected by the eMERGE II Steering Committee. In Aims 3 and 4 we will explore the attitudes towards, and use of, clinically relevant and incidental genomic findings in patient and control groups. We will utilize the infrastructure of our novel Informed Cohort Oversight Board (ICOB), implemented for The Gene Partnership (TGP), to develop a national process to address the ethical issues surrounding the return of research results to parents, participants, and caregivers. We hope to contribute significantly toward a consensus for standard procedures that fulfill patient expectations and needs, and that improve patient care. Finally, the two PAGER institutions plan major investments in the infrastructure supporting eMERGE II, valued at >$50,000,000 in aggregate over the next five years, which will greatly enhance the productivity of the PAGER site and eMERGE II. Our great interest in joining eMERGE II derives from its anticipated contributions toward the missions of CCHMC and CHB, which are to improve child health and transform delivery of care through fully integrated, globally recognized research, education, and innovation.

描述（由申请人提供）：辛辛那提儿童医院医疗中心（CCHMC）和波士顿儿童医院（CHB）提出，基因组和电子医疗记录（EMR）研究（PAGER）的儿科联盟（PAGER）成为Emerge Emerge II期网络的站点（RFA HG HG 11-022）。我们计划使用相关的基因组和广泛的关联研究（GWAS＆PHEWAS）数据来为单个孩子提供持续，可扩展的努力。 CCHMC＆CHB的非凡教师和信息基础设施已经实施了基于I2B2（整合生物学和床边）平台的I2B2（Informatics）“启用基因组发现企业”的中心医疗工具。 PAGER I2B2数据库包含250万EMR（所有住院和门诊就诊），每年增长> 100,000名新患者。 I2B2数据从EPIC EMR和Cerner EMR上载，对研究和遗产临床数据进行了转换，取消识别，增强，并与Pager BioreProsoSitories和GWAS数据相关联。此外，这两个机构都在实施雄心勃勃的生物库中，现在包含> 15,000个样本，并将以I2B2病历的儿童每年以> 30,000个DNA标本的增长。在AIM 1中，我们将基于我们的I2B2基础设施来发展神社，这将允许在Emerge II之间进行表型标准化和数据共享。在AIM 2中，我们将贡献6,861例具有EMR，DNA，GWAS数据和机构认证的案例，以提交DBGAP，以及返回结果的途径。 CHB和CCHMC学术学院的许多同事都提倡其学术兴趣的表型，为表型算法开发以及GWAS和PHEWAS在出现的II网络中提供了多种可能性。我们将为Emerge II指导委员会选择的以前和新表型做出贡献。在目标3和4中，我们将探讨患者和对照组中对临床相关和附带基因组发现的对临床相关和附带基因组发现的态度。我们将利用针对基因合作伙伴关系（TGP）实施的小说知情人群监督委员会（ICOB）的基础设施来开发国家进程，以解决围绕父母，参与者和看护者的研究结果回报的道德问题。我们希望对满足患者期望和需求并改善患者护理的标准程序达成共识。最后，这两个Pager机构计划在支持Emerge II的基础设施上进行重大投资，在未来五年中价值超过50,000,000美元，这将极大地提高Pager网站和Emerge II的生产率。我们对加入Emerge II的浓厚兴趣源于其对CCHMC和CHB任务的预期贡献，这些贡献是通过全球融合，全球范围 公认的研究，教育和创新。