Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government.
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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.
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.
Biospecimen Retention: Samples With DNA
Residual specimen may be maintained for an indefinite period of time at Ambry Genetics and be available for future studies as provided for in the consent document. Future studies on identifiable specimens or data will require review by an IRB or ethics committee.
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Layout table for eligibility information
Ages Eligible for Study:
18 Years and older (Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
The study population will include 2000 individuals with a family history of breast and/or ovarian cancer who present for genetic counseling at one of the investigative sites. The investigative sites will be clinics that regularly sees patients that meet the above description.
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
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