Applying Genomic Sequencing in Pediatrics

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不同的，以至于通过基因测试进行基因测试是昂贵和耗时的。我们将研究1)双侧感音神经性听力障碍、遗传性视网膜变性、核编码线粒体呼吸链障碍、心跳骤停/心源性猝死和智力残疾的患者。我们的研究将整合在三个项目中(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影响)，以开发工具来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的信息。我们将验证我们识别临床上有意义的发现的能力，以及我们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与家庭、科学家和伦理学家合作，确定在检测之前应该如何对患者进行咨询和教育，应该向每个家庭提供哪些数据，以及哪些教育工具将有助于理解检测的影响。此外，临床医生、诊断实验室 导演和科学家将进行测序。必要的解释和生物信息学工具，以准确和周到地从患者的基因组中提取相关数据。我们预计在这一批款期结束时会出现这种情况。与其他开展类似工作的中心协调一致，基因组测序将准备好用于儿科疾病的诊断，清楚地了解可能的发现，并制定临床鉴定计划。 有用的信息。

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.