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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. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03688204
Recruitment Status : Recruiting
First Posted : September 28, 2018
Last Update Posted : January 10, 2020
Information provided by (Responsible Party):
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.

Condition or disease
Breast Cancer Risk

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Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer: Impact on Risk Estimates, Management Recommendations, Clinical Outcomes, and Patient Perception
Actual Study Start Date : September 21, 2018
Estimated Primary Completion Date : September 21, 2020
Estimated Study Completion Date : September 21, 2025

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Breast Cancer

Primary Outcome Measures :
  1. 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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
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.

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT03688204

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Contact: Kirsten Blanco 949-457-4177
Contact: Virginia Speare, PhD 610-737-1518

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United States, California
Providence Roy and Patricia Disney Family Cancer Center Recruiting
Burbank, California, United States, 91505
Contact: Rhonda Crutcher    818-748-4726   
Principal Investigator: Ora Gordon, MD         
St Joseph Hospital of Orange Recruiting
Orange, California, United States, 92868
Contact: Sandra Brown, MS    714-734-6228   
Principal Investigator: Sandra Brown, MS         
United States, West Virginia
Edwards Comprehensive Cancer Center Recruiting
Huntington, West Virginia, United States, 25701
Contact: Lisa Muto, NP    304-399-6572      
Principal Investigator: Lisa Muto, NP         
Sponsors and Collaborators
Ambry Genetics
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Study Director: Brigette Tippin-Davis, PhD Ambry Genetics
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Responsible Party: Ambry Genetics Identifier: NCT03688204    
Other Study ID Numbers: SNP-17-001
First Posted: September 28, 2018    Key Record Dates
Last Update Posted: January 10, 2020
Last Verified: January 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Ambry Genetics:
Breast Cancer
Breast Neoplasm
Genetic Testing
Breast Cancer Risk
Cancer Risk
Risk Score
Genetic Risk Score
Polygenic Risk Score
Personalized Risk Score
Additional relevant MeSH terms:
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Breast Neoplasms
Neoplasms by Site
Breast Diseases
Skin Diseases