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，这些小儿疾病在遗传异质性上是昂贵且耗时的程度。我们将研究患有1）双侧感觉神经听力障碍的患者，遗传性视网膜退化，核编码的线粒体呼吸链疾病，猝死/心脏骤停/突然心脏死亡和智力疾病。我们的研究将在三个项目（临床基因组研究，测序数据的测序，分析和解释；以及研究的伦理和心理社会意义）之间进行整合，以开发用于识别和同意患者进行研究，进行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上重要发现的能力，以及我们确定偶然发现并确定哪个对家庭有用的能力。这项独特的研究将使我们能够与家人，科学家和伦理学家一起工作，以确定应在测试之前如何对患者进行咨询和教育，应向单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含义。此外，临床医生，诊断实验室 董事和科学家将开发测序。从患者的基因组中准确且周到地提取相关数据所需的解释性和生物信息学工具。我们预计在这笔赠款期结束时。与其他中心一起进行类似工作，将准备提供基因组测序，以诊断儿科疾病，并清楚地了解可能的发现，以及识别临床上的计划 有用的信息。