The Future of Genomics Medicine in Patient Care: Contributions from CHOP

基因组学医学在患者护理中的未来：CHOP 的贡献

基本信息

批准号：
9282527
负责人：
Hakon Hakonarson
金额：
$ 90.63万
依托单位：
CHILDREN'S HOSP OF PHILADELPHIA
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 2019-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9282527
关键词：
Adult Adverse event Algorithms American Asthma Atopic Dermatitis Attention deficit hyperactivity disorder Autistic Disorder Catalogs Child Childhood Clinical Clinical Pathology Clinical Trials Complex Consent Data Data Set Databases Development Diabetes Mellitus Disease Drug usage Early Intervention Education Electronic Health Record Environment Epilepsy Family Future Gastroesophageal reflux disease Genetic Genetic Polymorphism Genomic medicine Genomics Genotype Grant Guidelines Health Healthcare Individual Informatics Institutional Review Boards Intellectual functioning disability Laboratories Lead Libraries Medical Metabolic syndrome Obesity Obstructive Sleep Apnea Outcome Parents Participant Pathologist Patient Care Patients Pediatric Hospitals Pharmaceutical Preparations Pharmacogenomics Phase Phenotype Philadelphia Physicians Positioning Attribute Preventive Intervention Procedures Process Protocols documentation Public Health Publications Quality Control Research Research Infrastructure Resources Risk Sampling Series Severities Site Surveys Time Translations Update Validation Variant Work base biobank biomarker discovery clinical care clinical diagnostics clinically significant cohort college cost effectiveness data mining density disorder prevention exome experience feeding flexibility genetic variant genome sequencing genome wide association study genomic data genomic tools improved novel patient oriented patient population pediatric patients programs prospective public health relevance rare variant response success tool web site whole genome

项目摘要

DESCRIPTION (provided by applicant): The Center for Applied Genomics (CAG) at The Children's Hospital of Philadelphia (CHOP) has established a pediatric biorepository with over 60,000 children consented for access to electronic health records (EHRs) with regular updates, re-contact, and high-density genome-wide association (GWA) array data. For this project, we have proposed five specific aims reflecting the workgroup mechanism of the eMERGE consortium. These will build upon substantive Preliminary Data derived during eMERGE II, where a series of GWA, sequencing, pharmacogenomics (PGx), EHR integration, and return-of-results (RoR) projects helped establish a platform for translational and eMERGE III efforts. In the first of these aims, we propose to continue to expand the eMERGE phenotype library and we propose four lead phenotypes: obesity, epilepsy, intellectual disability, and autism, in which we have a strong record in discovery, integration, and translation. Under specific aim 2, we propose to leverage CAG's position as a world-leader in genomics research to characterize rare variants in 2,000 CAG patients, where we have already catalogued several hundred rare variants in the accompanying Appendix. Leveraging this resource and expertise at CAG and eMERGE, we propose to return actionable findings to a minimum of ~160 parents (Specific Aim 3). This effort will build upon our existing RoR platform established during eMERGE II that returned results to parents of 160 CHOP children with autism, and to several hundred individuals with PGx risk profiles. Our fourth aim is to evaluate the health impact, cost-effectiveness and ELSI implications of RoR, and we aim to longitudinally track all families to whom results are returned at four time-points, leveraging existing resources and surveys developed with pediatric eMERGE partners. Finally, we propose a massive expansion of our EHR integration, established under eMERGE II, which also provide and integrate education resources for patients and medical professionals across the eMERGE network. Ultimately, we anticipate that the immediate outcome of these efforts will be improved healthcare for patients at CHOP and expanding to the entire eMERGE network. Further, with our eMERGE partners, we aim to establish a blueprint for integrating genomics and EHR data on such a scale that it will have real potential to fundamentally change medical practice in the US.

描述（由申请人提供）：费城儿童医院 (CHOP) 的应用基因组学中心 (CAG) 建立了一个儿科生物存储库，超过 60,000 名儿童同意访问电子健康记录 (EHR)，并定期更新、重新联系和高密度全基因组关联 (GWA) 阵列数据对于该项目，我们提出了反映 eMERGE 联盟工作组机制的五个具体目标。这些将建立在 eMERGE II 期间获得的实质性初步数据的基础上，其中一系列 GWA、测序、药物基因组学 (PGx)、EHR 集成和结果返回 (RoR) 项目帮助建立了转化和 eMERGE III 工作的平台。第一个目标是，我们建议继续扩大 eMERGE 表型库，并提出四种主要表型：肥胖、癫痫、智力障碍和自闭症，我们在这方面拥有良好的记录。在具体目标 2 下，我们建议利用 CAG 在基因组学研究方面的世界领先地位来表征 2,000 名 CAG 患者的罕见变异，我们已经在随附的附录中对数百种罕见变异进行了分类。利用 CAG 和 eMERGE 的资源和专业知识，我们建议将可操作的调查结果返回给至少约 160 名家长（具体目标 3）。这项工作将建立在 eMERGE II 期间建立的现有 RoR 平台的基础上。我们的第四个目标是评估 RoR 的健康影响、成本效益和 ELSI 影响，并向 160 名患有自闭症的 CHOP 儿童的父母以及数百名具有 PGx 风险的个人返回结果。最后，我们建议大规模扩展我们在 eMERGE II 下建立的 EHR 集成，该集成还为患者和医疗专业人员提供和集成教育资源。最终，我们预计这些努力的直接成果将是改善 CHOP 患者的医疗保健并扩展到整个 eMERGE 网络。此外，我们的目标是与我们的 eMERGE 合作伙伴建立整合基因组学和 EHR 的蓝图。如此大规模的数据将有真正潜力从根本上改变美国的医疗实践。