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

Ambry Genetics118 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

118

Conditions

Breast Cancer Risk

Eligibility

Sex: FEMALEMin age: 18 Years

Medical Language ↔ Plain English

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

Locations (3)

Providence Roy and Patricia Disney Family Cancer Center

Burbank, California, United States

St Joseph Hospital of Orange

Orange, California, United States

Edwards Comprehensive Cancer Center

Huntington, West Virginia, United States

Outcomes

Primary Outcomes

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.

Time frame: 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.

Data from ClinicalTrials.gov

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