Evaluating utility and improving implementation of genomic sequencing for pediatric cancer patients in the diverse population and healthcare settings of Texas: The KidsCanSeq Study

评估德克萨斯州不同人群和医疗环境中儿科癌症患者基因组测序的效用并改进其实施：KidsCanSeq 研究

• 批准号: 9327469
• 负责人: Amy L McGuire
• 金额: $ 280.14万
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 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 2021-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9327469
• 关键词: Address; Advocate; African American; Age; Blood; Blood specimen; CLIA certified; Cancer Patient; Caring; Child; Clinical; Communication; Complex; Consent; Counseling; Data; Diagnostic; Diagnostic tests; Disclosure; Educational Materials; Electronic Health Record; Ethicists; Ethics; Ethnic Origin; Evaluation; Family member; Feedback; First Degree Relative; Freezing; Frequencies; Future; Gene Targeting; Genetic screening method; Genomic medicine; Genomics; Health Policy; Health Services Accessibility; Healthcare; Hispanics; Informed Consent; Institution; Interview; Language; Leadership; Letters; Lymphoma; Malignant Childhood Neoplasm; Malignant Neoplasms; Measures; Medical; Medicine; Methods; Modality; Neuraxis; Not Hispanic or Latino; Oncogenes; Oncologist; Parents; Patients; Pediatric Hospitals; Pediatric Oncologist; Pediatric Oncology; Persons; Physicians; Pilot Projects; Play; Population; Population Heterogeneity; Race; Recommendation; Reporting; Research; Risk; Role; Sampling; Scholarship; Solid Neoplasm; Standardization; Surveys; Telemedicine; Testing; Texas; Time; Visit; actionable mutation; base; cancer genetics; cancer genomics; clinical application; clinical sequencing; cohort; college; cost; design; exome; exome sequencing; expectation; experience; gene panel; genome sequencing; genome-wide; health care service utilization; health disparity; health economics; high risk; improved; innovation; novel; patient population; patient subsets; preference; proband; programs; psychologic; racial and ethnic; social implication; study population; success; transcriptome sequencing; tumor; uptake; whole genome; willingness; Address; Advocate; African American; Age; Blood; Blood specimen; CLIA certified; Cancer Patient; Caring; Child; Clinical; Communication; Complex; Consent; Counseling; Data; Diagnostic; Diagnostic tests; Disclosure; Educational Materials; Electronic Health Record; Ethicists; Ethics; Ethnic Origin; Evaluation; Family member; Feedback; First Degree Relative; Freezing; Frequencies; Future; Gene Targeting; Genetic screening method; Genomic medicine; Genomics; Health Policy; Health Services Accessibility; Healthcare; Hispanics; Informed Consent; Institution; Interview; Language; Leadership; Letters; Lymphoma; Malignant Childhood Neoplasm; Malignant Neoplasms; Measures; Medical; Medicine; Methods; Modality; Neuraxis; Not Hispanic or Latino; Oncogenes; Oncologist; Parents; Patients; Pediatric Hospitals; Pediatric Oncologist; Pediatric Oncology; Persons; Physicians; Pilot Projects; Play; Population; Population Heterogeneity; Race; Recommendation; Reporting; Research; Risk; Role; Sampling; Scholarship; Solid Neoplasm; Standardization; Surveys; Telemedicine; Testing; Texas; Time; Visit; actionable mutation; base; cancer genetics; cancer genomics; clinical application; clinical sequencing; cohort; college; cost; design; exome; exome sequencing; expectation; experience; gene panel; genome sequencing; genome-wide; health care service utilization; health disparity; health economics; high risk; improved; innovation; novel; patient population; patient subsets; preference; proband; programs; psychologic; racial and ethnic; social implication; study population; success; transcriptome sequencing; tumor; uptake; whole genome; willingness

Through this Clinical Sequencing Evidence-Generating Research (CSER2) with Enhanced Diversity project we will complete a trial (The Texas KidsCanSeq Study) comparing the results of targeted cancer panel sequencing versus genome-scale testing in pediatric cancer patients across diverse clinical settings. We will compare the targeted cancer panel to germline whole exome sequencing (WES) of unselected childhood cancer patients (n=1100) and WES, transcriptome sequencing and copy number array of FFPE tumor samples for the subset of patients with high-risk tumors (n=360). We will build on our success completing the CSER program BASIC3 exome sequencing trial (which included 60% Hispanic and African-American patients from a single large academic center) in this large multi-institutional study of an even more diverse patient population from five heterogeneous healthcare settings across Texas. The trial will be led by an experienced multi-PI team of Drs. Plon (medical geneticist), Parsons (pediatric oncologist) and McGuire (ethicist and health policy expert). We will assess clinical utility of these tests by measuring the frequency of diagnostic and/or actionable germline and tumor findings and the effect on treatment decisions (Aim 1). We will compare uptake by first degree relatives for familial genetic testing and recommended cancer surveillance by race, ethnicity and clinical settings (Aim 2). We will describe perceived utility (clinical, psychological, and pragmatic) by surveying and interviewing parents and participating pediatric oncologists (n=40) (Aim 3). Working with our pediatric cancer stakeholders, including advocates, BASIC3 study parents, and national organizations, we will create and evaluate the use of culturally sensitive educational materials, including videos in English and Spanish, improved integrated genomic test reports and counseling materials, and will compare in-person versus telemedicine exome results disclosure (Aim 4). Finally, we will provide data to guide future application of clinical genomics through three innovative pilot projects focused on health economics, decision support for cancer surveillance and whole genome sequencing (Aim 5). Baylor College of Medicine, Texas Children’s Hospital, and our partner institutions across the state are ideally suited to conduct this study and play leadership roles in CSER2 consortium activities based on our longstanding pediatric oncology and cancer genetics expertise, extensive experience in CLIA-certified clinical germline and cancer genomic diagnostic testing, and a track record of scholarship in ethical and social implications of genomics and health disparities research.

通过这项临床测序生成循证研究（CSER2） 多样性项目我们将完成一个比较结果的试验（德克萨斯Kidscanseq研究） 小儿癌患者中有针对性的癌症面板测序与基因组规模测试 跨潜水员临床环境。我们将将目标癌面板与整体种系进行比较 未选择儿童癌症患者（n = 1100）和WES的外显子组测序（WES）， FFPE肿瘤样品的转录组测序和副本编号阵列 具有高风险肿瘤的患者（n = 360）。我们将以完成CSER的成功为基础 Program Basic3外显子测序试验（其中包括60％西班牙裔和非裔美国人 来自一个大型学术中心的患者）在这项大型多机构研究中 来自德克萨斯州五个异质医疗保健环境的患者人数更加多样化。 审判将由经验丰富的多人DRS团队领导。 PLON（医学遗传学家），帕森斯 （儿科肿瘤学家）和麦奎尔（伦理学和卫生政策专家）。我们将评估临床 通过测量诊断和/或可作用种系的频率以及 肿瘤发现及其对治疗决策的影响（AIM 1）。我们将首先比较吸收 用于农场基因检测的学位亲戚，并建议按种族进行癌症监测， 种族和临床环境（AIM 2）。我们将描述感知到的效用（临床，心理， 和务实的）调查和采访父母和参与儿科肿瘤学家 （n = 40）（目标3）。与我们的儿科癌症利益相关者（包括倡导者，基本3）合作3 研究父母和国家组织，我们将创建和评估文化的使用 敏感的教育材料，包括英语和西班牙语的视频，改进了整合 基因组测试报告和咨询材料，将比较面对面与远程医疗 外部结果披露（AIM 4）。最后，我们将提供数据以指导未来的应用 通过三个专注于健康经济学的创新试点项目的临床基因组学，决策 支持癌症监测和整个基因组测序（AIM 5）。贝勒学院 医学，德克萨斯州儿童医院以及我们全州的合作伙伴机构是理想情况下 适合进行这项研究并在CSER2联盟活动中扮演领导角色 我们长期存在的儿科肿瘤学和癌症遗传学专业知识，丰富的经验 CLIA认证的临床种系和癌症基因组诊断测试，以及 基因组学和健康差异研究的道德和社会含义的奖学金。