The Electronic Medical Records and GEnomics (eMERGE) Network Genomic Risk Assessment
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 26,877
- 试验地点
- 24
- 主要终点
- The number of new health care actions after return of the genome-informed risk assessment
研究概览
简要总结
The eMERGE Network embraces the opportunity to use new methods in genomic medicine, information science, and research participant engagement to identify people at very high risk for specific diseases and recommend individualized approaches to prevention and care. The investigators will conduct a prospective study, with diverse and underserved participants, across ten eMERGE study sites to evaluate clinical implementation of a Genome Informed Risk Assessment (GIRA) tool that combines genetic, family history, and clinical risk information from participants.
详细描述
The purpose of the study is to determine if providing a Genome Informed Risk Assessment (GIRA) will impact clinical actions taken by providers and patients to manage disease risk and the propensity of participants to develop a disease reported in the GIRA. New tools in Genomic Medicine - polygenic risk scores, monogenic genetic screening tests, platforms to capture family history, and advanced electronic phenotyping - offer the prospect of early identification of people at especially high risk of common diseases. The investigators developed methods to generate integrated genomic risk assessments for ten conditions; a plan to engage, recruit, and retain ~25,000 subjects to receive these assessments; and methods to study outcomes in those designated high risk and those designated non-high risk. By enhancing understanding of new methods to create and deliver integrated genomic risk assessments, this project will enable prevention and early treatment of people at high risk for common diseases.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 3 Years 至 75 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Adults 18-75
- •Children 3 to < 18
- •Able to read or understand English or Spanish
- •Able to provide a healthcare provider or clinician to receive results
- •Willing to accept GIRA report
排除标准
- •Inability to provide consent
- •Transplant (solid organ or bone marrow) or transfusion within 8 weeks
- •Research staff and investigators in eMERGE
- •Not a patient at parent institution
研究组 & 干预措施
Participants receiving a Genome Informed Risk Assessment (GIRA)
All participants and their health care providers will receive a Genome Informed Risk Assessment (GIRA) report.
干预措施: Genome Informed Risk Assessment (GIRA) report (Other)
结局指标
主要结局
The number of new health care actions after return of the genome-informed risk assessment
时间窗: Baseline to 6 months post return of results to participant
Number of new health care actions will be measured by electronic health record data and participant-reported outcomes through a REDCap survey. Pre-specified actions will include a condition-specific composite of new encounters, clinical orders, or specialty referrals for clinical evaluation associated with the condition(s), placed by a provider within 6 months of result disclosure.
次要结局
- Number of risk-reducing interventions after return of the genome-informed risk assessment(6 months and 12 months post return of results to participant)
- Number of newly diagnosed conditions after return of the genome-informed risk assessment(6 months and 12 months post return of results to participant)
研究者
Josh Peterson
Professor of Biomedical Informatics and Medicine
Vanderbilt University Medical Center