Applying Genomic Sequencing in Pediatrics

基因组测序在儿科中的应用

• 批准号: 8587493
• 负责人: IAN D. KRANTZ
• 金额: $ 216.48万
• 依托单位: CHILDREN'S HOSP OF PHILADELPHIA
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-12-05 至 2015-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8587493
• 关键词: Back; Bilateral; Bioinformatics; Childhood; Clinical; Consent; Counseling; Data; Data Reporting; Diagnosis; Diagnostic; Disease; Ethicists; Ethics; Family; Genes; Genetic; Genome; Genomics; Grant; Heart Arrest; Hereditary Disease; Incidental Findings; Individual; Intellectual functioning disability; Mitochondria; Morbidity - disease rate; Nuclear; Patients; Pediatrics; Population; Research; Respiratory Chain; Scientist; Sequence Analysis; Testing; Time; Work; clinically significant; genome sequencing; hearing impairment; inherited retinal degeneration; mortality; psychosocial; sudden cardiac death; tool

DESCRIPTION (provided by applicant): This work represents a team effort to bring genomic sequencing into a pediatric clinical setting. We have chosen to validate and study genomic sequencing for 5 groups of pediatric disorders that are genetically heterogeneous to the extent that gene by gene testing Is expensive and time consuming. We will study patients with 1) bilateral sensorineural hearing Impairment, Inherited retinal degenerations, nuclear encoded mitochondrial respiratory chain disorders, sudden cardiac arrest/sudden cardiac death and intellectual disability. Our studies will be Integrated across three projects (Clinical Genomic Studies; Sequencing, Analysis and Interpretation of Sequencing Data; and Ethical and Psychosocial Implications of Research) to develop the tools for identifying and consenting patients for study, carrying out and Interpreting the sequencing data and reporting back useful Information to the families of our patients. We will validate our ability to Identify clinically significant findings, as well as our ability to identify incidental findings and determine which o these will be useful to families. This unique study will allow us to work with families, scientist and ethicists up front, to determine how our patients should be counseled and educated before testing, what data should be provided back to Individual families, and what educational tools will help in understanding the Implications of the testing. In addition, the clinicians, diagnostic lab directors and scientists will develop the sequencing. Interpretative and bioinformatic tools necessary to accurately and thoughtfully extract the relevant data from our patient's genomes. We anticipate that at the end of this grant period. In concert with other centers carrying out similar work, genomic sequencing will be ready to be offered for diagnosis of pediatric disorders, with a clear view of the possible findings, and a plan for identification of clinically useful information.

描述（由申请人提供）：这项工作代表了团队努力将基因组测序引入儿科临床环境。我们选择验证和研究 5 组儿科疾病的基因组测序，这些疾病具有遗传异质性，逐个基因测试既昂贵又耗时。我们将研究患有 1) 双侧感音神经性听力损伤、遗传性视网膜变性、核编码线粒体呼吸链疾病、心脏骤停/心源性猝死和智力障碍的患者。我们的研究将整合三个项目（临床基因组研究；测序数据的测序、分析和解释；以及研究的伦理和社会心理影响），以开发用于识别和同意患者进行研究、执行和解释测序数据和向患者家属报告有用的信息。我们将验证我们识别具有临床意义的发现的能力，以及识别偶然发现并确定哪些对家庭有用的能力。这项独特的研究将使我们能够预先与家庭、科学家和伦理学家合作，确定在测试前应如何对患者进行咨询和教育，应向各个家庭提供哪些数据，以及哪些教育工具将有助于理解测试的影响的测试。此外，临床医生、诊断实验室 主任和科学家将开发测序。准确而周到地从患者基因组中提取相关数据所需的解释和生物信息工具。我们预计在本次拨款期结束时。与其他开展类似工作的中心合作，基因组测序将准备好用于儿科疾病的诊断，并清楚地了解可能的发现，并制定临床识别计划 有用的信息。