Adolescent and Young Adult Cancer Patients Attitudes toward and Decision-Making Preferences about Clinical Genome Sequencing

青少年和年轻癌症患者对临床基因组测序的态度和决策偏好

• 批准号: 9927515
• 负责人: Amy L McGuire
• 金额: $ 15.97万
• 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/9927515
• 关键词: Address; Adolescent and Young Adult; Advocate; African American; Age; Attitude; Blood; Blood specimen; CLIA certified; Cancer Patient; Caring; Child; Clinical; Communication; Complex; Consent; Counseling; Data; Decision Making; Diagnostic; Diagnostic tests; Disclosure; Educational Materials; Electronic Health Record; Ethicists; Ethics; Ethnic Origin; Evaluation; Family member; Feedback; First Degree Relative; Freezing; Frequencies; Future; Genetic screening method; Genomic medicine; Genomics; Health Policy; Health Services Accessibility; Hispanic Americans; 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 care settings; 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.

通过这项具有增强功能的临床测序证据生成研究 (CSER2) 我们将完成一项试验（德克萨斯州 KidsCanSeq 研究）来比较结果的多样性项目 儿科癌症患者的靶向癌症面板测序与基因组规模测试的比较 我们将在不同的临床环境中将靶向癌症组与整个种系进行比较。 未选择的儿童癌症患者 (n=1100) 的外显子组测序 (WES) 和 WES， FFPE 肿瘤样本的转录组测序和拷贝数阵列 高危肿瘤患者 (n=360) 我们将在成功完成 CSER 的基础上再接再厉。 BASIC3 外显子组测序试验（其中包括 60% 的西班牙裔和非裔美国人） 来自单个大型学术中心的患者）在这项大型多机构研究中，甚至 来自德克萨斯州五个异质医疗机构的更多样化的患者群体。 试验将由经验丰富的 Plon 博士（医学遗传学家）、Parsons 团队领导。 （儿科肿瘤学家）和麦奎尔（伦理学家和卫生政策专家）我们将评估临床。 通过测量诊断和/或可操作种系的频率来利用这些测试 我们将首先比较肿瘤的发现和对治疗决策的影响（目标 1）。 亲属进行家族基因检测并建议按种族进行癌症监测， 种族和临床环境（目标 2）我们将描述感知效用（临床、心理、 务实）通过调查和采访家长和参与的儿科肿瘤学家 (n=40)（目标 3）与我们的儿科癌症利益相关者（包括倡导者、BASIC3）合作。 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视频，提高了综合性 基因组测试报告和咨询材料，并将比较现场医疗与远程医疗 最后，我们将提供数据来指导未来的应用。 临床基因组学通过三个创新试点项目重点关注卫生经济学、决策 支持癌症监测和全基因组测序（目标 5）。 医学、德克萨斯儿童医院以及我们在全州的合作机构是理想的选择 适合开展这项研究并在基于以下内容的 CSER2 联盟活动中发挥领导作用 我们长期的儿科肿瘤学和癌症遗传学专业知识以及丰富的经验 CLIA 认证的临床种系和癌症基因组诊断测试，以及跟踪记录 基因组学和健康差异研究的伦理和社会影响方面的学术研究。