权益分类	功能权益	普通用户	{{item.name}}会员
{{category.name}}	{{benefitItem.name}}

Cost-effectiveness of Whole Genome Sequencing of Healthy Adults

健康成人全基因组测序的成本效益

基本信息

批准号：
9164966
负责人：
Kurt Derek Christensen
金额：
$ 12.55万
依托单位：
BRIGHAM AND WOMEN'S HOSPITAL
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-09-09 至 2021-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9164966
关键词：
Address Adult Adverse effects Applied Skills Area Benign Big Data Caring Classification Clinical Clinical Trials Conduct Clinical Trials Cost Analysis Cost effectiveness research Cost utility DNA Sequence Data Data Set Decision Making Decision Modeling Development Diagnostic tests Disclosure Disease Etiology Evaluation Expenditure Family Foundational Skills Foundations Funding Future Genetic Genomics Goals Grant Guidelines Health Health Care Costs Health Technology Healthcare Incidental Findings Individual Inherited Institution International Intervention Lead Medical Mendelian disorder Mentors Modeling Monitor National Human Genome Research Institute National Research Service Awards Outcome Participant Patient-Focused Outcomes Patients Peer Review Penetrance Pharmacogenomics Physicians Policies Population Predisposition Prevention Primary Health Care Principal Investigator Process Publications Publishing Quality-Adjusted Life Years Randomized Clinical Trials Randomized Controlled Trials Recording of previous events Research Research Personnel Research Training Reservations Risk Services Syndrome Technology Assessment Testing Time Uncertainty United States National Institutes of Health Variant Work base behavioral response career career development clinical care cost cost effective cost effectiveness data modeling disorder risk economic implication empowered experience falls follow-up genome sequencing high risk improved innovation insight instructor novel programs psychologic randomized trial reproductive response screening skills skills training symposium treatment as usual treatment choice whole genome

项目摘要

ABSTRACT Whole genome sequencing has vast potential to improve the care of generally healthy adults by identifying predispositions for disease to facilitate targeted prevention and screening efforts, by informing treatment options when illnesses do develop, and more. It may also cause more harm than good through false-positive findings, through unnecessary monitoring because of incomplete genetic penetrance, and because the conditions identified by genomic sequencing may lack effective prevention options. Adding to the unease about genomic sequencing are concerns that its use among healthy adults will cause healthcare expenditures to surge not only due to the costs of sequencing, variant classification, and periodic re-analysis, but also by initiating a cascade of follow-up diagnostic testing and potentially-unnecessary screening. Uncertainties about the utility and costs of integrating genomic sequencing into clinical settings are hindering the development of genomic testing policies and discouraging payers from reimbursing for these services, particularly for testing of populations that are asymptomatic for disease. Reservations about embracing genomic testing may be warranted, but are currently based in speculation about the benefits, harms and costs of sequencing rather than evidence. For the field of genomics to achieve its potential now and in the future, research programs need to begin systematically assessing these outcomes with rigor. This career development grant addresses the dearth of cost-effectiveness researchers in genomics by proposing a research and training agenda that builds on the recognized skills of a young outcomes researcher in clinical genomics to help him launch an independent career investigating the cost-effectiveness of genomic sequencing. Already, the candidate is a high-profile researcher, having received an NIH-funded National Research Service Award and having published over two dozen peer-reviewed publications about psychological and behavioral responses to genomic information. Through this grant, this newly-appointed Instructor will gain additional skills in cost- effectiveness research alongside clinical trials by conducting a five-year follow-up of the healthcare costs and health outcomes from his proposed mentor's pioneering randomized trial of whole genome sequencing in the clinical care of healthy adults, the MedSeq Project. The candidate will also gain skills in decision modeling and working with “big data” by creating a decision-analytic model that projects the costs and utility of genomic sequencing over patients' lifetimes. Lastly, the candidate will identify the areas of research that will provide the most value for cost-effectiveness research by conducting a value-of-information analysis about genomic sequencing among healthy adults. Findings from the proposed research will not only generate critically-needed insight about the value of genomic sequencing among healthy adults, but will also provide the candidate with foundational skills and pilot data for an R01 submission to understand the cost-effectiveness of genomic sequencing throughout patients' lives.

摘要