Incorporation of Genomic Sequencing into Pediatric Cancer Care

描述（由申请人提供）：本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瘤儿童癌症患者的护理中。考虑到该项目的临床性质，两位主要研究者将是博士。Donald W. Parsons和Sharon E. Plon分别是委员会认证的儿科肿瘤学家和医学遗传学家。我们将评估全外显子组序列数据的影响，该数据由一个新颖的基于网络的平台报告，该平台链接到报告的每个变体的现有数据，并通过图形显示，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家长的沟通和临床决策(1)肿瘤全外显子组序列数据的可用性如何影响医生对特定临床试验的招募和肿瘤复发情况下选择的治疗方案的建议？(2)种系全外显子组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？将进行基因组尺度数据披露中医师沟通的定量分析。将评估父母对接受基因组规模数据的理解和偏好。与适当使用和报告全外显子组数据相关的伦理问题，包括在儿科环境中可能出现的偶然发现。贝勒医学院拥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，非常适合开展这项研究。美国最大的学术clia认证分子诊断实验室，在医学伦理和卫生政策中心的基因组学伦理和社会影响以及卫生成果服务司的医患/家长沟通方面的学术记录。

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.