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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT03688204

Enrollment

118

Registered

2018-09-28

Start date

2018-09-21

Completion date

2020-11-11

Last updated

2022-03-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Breast Cancer Risk

Keywords

Breast Cancer, Breast Neoplasm, Genetic Testing, Breast Cancer Risk, Cancer Risk, Risk Score, Genetic Risk Score, Polygenic Risk Score, Personalized Risk Score

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

FEMALE

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame	Description
Change in Breast Cancer Risk Management Recommendations	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.

Countries

United States

Outcome results