Incorporation of Genomic Sequencing into Pediatric Cancer Care

描述（由申请人提供）：该探索性临床测序项目的目标是将全基因组实验室生成的CLIA认证的生殖系和肿瘤外显子组测序信息整合到德克萨斯州儿童癌症中心的高风险实体瘤和脑肿瘤儿童癌症患者的护理中。鉴于该项目的临床性质，双重主要研究者将是Drs. Donald W. Parsons和Sharon E. plon，委员会认证的儿科肿瘤学家和医学遗传学家，分别。我们将评估一个新的基于网络的平台报告的全外显子组序列数据的影响，该平台与报告的每个变体的现有数据相链接，并通过图形显示呈现，这将有助于医生向父母披露复杂的数据。我们将在两个临床问题的背景下评估医生与父母的沟通和临床决策（1）肿瘤全外显子组序列数据的可用性如何影响医生关于特定临床试验入组的建议以及在肿瘤复发情况下选择的治疗计划？(2)生殖系全外显子序列数据的可用性如何影响患者的癌症监测以及家庭成员的基因检测和癌症监测？ 将对披露基因组规模数据的医生沟通进行定量分析。 将评估父母对接受基因组规模数据的理解和偏好。伦理问题有关的适当使用和报告的整个外显子组数据，包括可能的偶然发现在儿科设置将得到解决。贝勒医学院非常适合进行这项研究，具有长期的临床肿瘤学和癌症遗传学实践，通过人类基因组测序中心在基因组学方面的广泛专业知识，美国最大的学术CLIA认证的分子诊断实验室，以及医学伦理与健康政策中心和医患关系中心基因组学伦理和社会影响方面的奖学金记录。健康结果服务部的家长沟通。

DESCRIPTION (provided by applicant): The goal of this Exploratory Clinical Sequencing project is to integrate CLIA-certified germ line and tumor exome sequencing information generated by the Whole Genome Laboratory into the care of childhood cancer patients with high-risk solid tumors and brain tumors at the Texas Children's Cancer Center. Given the clinical nature of the project the dual principal investigators will be Drs. Donald W. Parsons and Sharon E. Plon, board-certified pediatric oncologist and medical geneticist, respectively. We will assess the impact of whole exome sequence data reported by a novel web-based platform with links to existing data for each variant reported and presented through a graphical display that will facilitate physician disclosure of complex data to parents. We will evaluate physician-parent communication and clinical decision-making in the context of two clinical questions (1) How does the availability of tumor whole exome sequence data affect physician recommendations regarding enrollment on specific clinical trials and the treatment plans chosen in the scenario of tumor recurrence? (2) How does the availability of germline whole exome sequence data affect cancer surveillance for patients and genetic testing and cancer surveillance for family members? Quantitative analysis of physician communication in disclosure of genome-scale data will be performed. Parental understanding and preferences for receiving genome scale data will be assessed. Ethical issues related to the appropriate use and reporting of whole exome data including possible incidental findings in a pediatric setting will be addressed. Baylor College of Medicine is ideally suited to conduct this study with the longstanding clinical oncology and cancer genetics practices, extensive expertise in genomics through the Human Genome Sequencing Center, the largest academic CLIA-certified molecular diagnostic laboratory in the United States and a track record of scholarship in ethical and social implications of genomics in the Center for Medical Ethics and Health Policy and physician-patient/parent communication in the Division of Health Outcome Services.