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

Breast Cancer Risk Clinical Trial

Official title:

Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer: Impact on Risk Estimates, Management Recommendations, Clinical Outcomes, and Patient Perception

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03688204
• Other study ID #: SNP-17-001
• Status: Completed
• Start date: September 21, 2018
• Est. completion date: November 11, 2020

Study information

• Verified date: March 2022
• Source: Ambry Genetics
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 118
• Est. completion date: November 11, 2020
• Est. primary completion date: November 11, 2020
• Accepts healthy volunteers: No
• Gender: Female
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Breast Cancer Risk
• Breast Neoplasms

Locations

Country	Name	City	State
United States	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

Sponsors (1)

Lead Sponsor	Collaborator
Ambry Genetics

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in Breast Cancer Risk Management Recommendations	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.	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.