Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer

Completed

• Conditions: Breast Cancer Risk

• Registration Number: NCT03688204
• Lead Sponsor: Ambry Genetics

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2018-09-20
• Study Start: 2018-09-21
• Study First Submitted QC: 2018-09-26
• Study First Posted: 2018-09-28
• Primary Completion: 2020-11-11
• Study Completion: 2020-11-11
• Status Verified: 2022-03
• Last Update Submitted: 2022-03-04
• Last Update Posted: 2022-03-07

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Female
• Target Recruitment: 118

Inclusion Criteria

• 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

Exclusion Criteria

• 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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Change in Breast Cancer Risk Management Recommendations	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.

Trial Locations

Locations (3)

Providence Roy and Patricia Disney Family Cancer Center; 🇺🇸 Burbank, California, United States

Edwards Comprehensive Cancer Center; 🇺🇸 Huntington, West Virginia, United States

St Joseph Hospital of Orange; 🇺🇸 Orange, California, United States