Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer: Impact on Risk Estimates, Management Recommendations, Clinical Outcomes, and Patient Perception
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 118
- 试验地点
- 3
- 主要终点
- Change in Breast Cancer Risk Management Recommendations
研究概览
简要总结
This study aims to assess how a polygenic risk score (PRS) reported with the results of multi-gene panel testing affects the breast cancer risk management recommendations healthcare providers make to their patients. The PRS is a score based on small genetic changes, clinical history, and family history. The PRS is used to estimate remaining lifetime risk of developing breast cancer for patients with no personal history of breast cancer and an overall negative result from MGPT.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- Female
- 接受健康志愿者
- 否
入选标准
- •Female, age ≥ 18 years
- •Willing and able to provide meaningful informed consent
- •Willing and able to complete study procedures as described in this protocol
- •Electing to undergo multi-gene panel testing for hereditary breast cancer for clinical purposes at the time of consent
- •No personal history of cancer (except non-melanoma skin cancer) and meets NCCN guidelines for BRCA1/2 testing based on family history of breast and/or ovarian cancer
- •Meets Ambry criteria for clinical reporting of PRS score
排除标准
- •Prior germline BRCA1/2 testing
- •Not willing to receive PRS
- •Personal history of cancer, except non-melanoma skin cancer
- •Personal history of allogenic bone marrow/stem cell transplant
结局指标
主要结局
Change in Breast Cancer Risk Management Recommendations
时间窗: First recommendations will be made within 45 days of the initial study visit. Second recommendations will be made within 75 days of the initial study visit.
Breast Cancer Risk Management Recommendations are recorded at two separate times; first recommendations will be recorded by the investigator or his/her designee based on the results of MGPT only. After these recommendations are recorded, the complete report including the PRS will be released. Then the healthcare provider will record recommendations again based on the results of MGPT and PRS. The difference between these recommendations will be used as a measure of the effect a PRS has on breast cancer risk management recommendations made by healthcare providers.
次要结局
未报告次要终点