Applying Genomic Sequencing in Pediatrics

基因组测序在儿科中的应用

• 批准号: 8777968
• 负责人: IAN D. KRANTZ
• 金额: $ 212.71万
• 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 2018-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8777968
• 关键词: Back; Bilateral; Bioinformatics; Childhood; Clinical; Consent; Counseling; Data; Data Reporting; Diagnosis; Diagnostic; Disease; Ethicists; Ethics; Family; Genes; Genetic; Genetic screening method; 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）：这项工作代表了将基因组测序带入儿科临床环境的团队努力。我们选择验证和研究5组儿科疾病的基因组测序，这些疾病在遗传上是异质的，以至于逐个基因检测既昂贵又耗时。我们将研究患有1）双侧感觉神经性听力障碍、遗传性视网膜变性、核编码线粒体呼吸链疾病、心脏骤停/心脏性猝死和智力残疾的患者。我们的研究将整合到三个项目中（临床基因组研究;测序，测序数据的分析和解释;以及研究的伦理和心理社会影响），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并向患者家属报告有用信息的工具。我们将验证我们识别临床显著发现的能力，以及我们识别偶然发现的能力，并确定哪些对家庭有用。这项独特的研究将使我们能够与家庭，科学家和伦理学家一起工作，以确定我们的患者在测试前应该如何接受咨询和教育，应该向个人家庭提供哪些数据，以及哪些教育工具将有助于理解测试的影响。此外，临床医生，诊断实验室 导演和科学家将开发排序。解释性和生物信息学工具，用于准确和周到地从患者的基因组中提取相关数据。我们预计，在本补助金期限结束时。与其他开展类似工作的中心合作，基因组测序将准备用于儿科疾病的诊断，明确可能的发现，并制定临床识别计划。 有用的信息