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Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Testing and Validation

衡量对临床基因组测序实用性的看法：仪器测试和验证

基本信息

批准号：
10403262
负责人：
Amy L McGuire
金额：
$ 27.83万
依托单位：
BAYLOR COLLEGE OF MEDICINE
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-12-05 至 2023-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10403262
关键词：
Adult Advocate African American CLIA certified Cancer Patient Clinical Communities Counseling Data Diagnostic Diagnostic tests Disclosure Educational Materials Ethicists Ethics Ethnic Origin First Degree Relative Frequencies Future Genomic medicine Genomics Health Policy Hispanic Americans Institution Interview Leadership Malignant Childhood Neoplasm Malignant Neoplasms Measures Medical Medicine Parents Patients Pediatric Hospitals Pediatric Oncologist Pediatric Oncology Perception Persons Pilot Projects Play Race Reporting Research Role Sampling Scholarship Surveys Telemedicine Testing Texas Validation base cancer genetics cancer genomics clinical application clinical sequencing college design exome exome sequencing experience genetic testing genome sequencing genome-wide health care settings health disparity health economics high risk improved innovation instrument novel patient population patient subsets pediatric patients precision medicine programs psychologic social implication success transcriptome sequencing tumor uptake whole genome

项目摘要

PROJECT SUMMARY 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.

项目总结