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

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.

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Key information

Conditions

Breast Cancer Risk Breast Diseases Breast Neoplasms Disease Attributes Disease Susceptibility Genetic Predisposition to Disease Genetic Risk Score Neoplasms Neoplasms by Site Pathologic Processes Pathological Conditions, Signs and Symptoms Skin Diseases Skin and Connective Tissue Diseases

Age range

18 year and older

Sex eligibility

Female

Study type

Observational

Primary location

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Change in Breast Cancer Risk Management Recommendations

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.

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.

Sponsors and collaborators

Lead sponsor

Ambry Genetics

Industry

Registry information

Official study title

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

Important dates

Study start: 2018
Primary completion: 2020
Study completion: 2020
First posted: Sep 28, 2018
Registry last updated: Mar 7, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed