Guidance for the Clinical Use of the Breast Cancer Polygenic Risk Scores

Area of Science:

• Genomics and Precision Medicine
• Oncology
• Clinical Genetics

Background:

• Polygenic risk scores (PRSs) are increasingly used in healthcare, particularly for breast cancer prediction.
• Clinical utility and consensus on indications for breast cancer PRSs are still developing.
• This guidance aims to clarify the evidence for PRS clinical application in breast cancer risk stratification.

Purpose of the Study:

• To articulate the scientific evidence for the clinical utility of PRSs in breast cancer risk stratification.
• To provide guidance on the indications for clinical use of breast cancer PRSs.
• To emphasize clinical application and integration into healthcare services.

Main Methods:

• A review of the existing evidence base on breast cancer PRSs.
• Expert opinion from active researchers and developers in the field.
• Synthesis of evidence and expert opinion to define clinical indications.

Main Results:

• Identified three key scenarios for breast cancer PRS clinical use: managing cancer-free women with a family history, personalized prevention and screening, and optimizing screening programs.
• Demonstrated the potential for PRSs in stratifying breast cancer risk.
• Supported the use of PRSs in various healthcare settings.

Conclusions:

• Integrating PRSs enhances breast cancer risk assessment accuracy.
• PRSs enable personalized prevention strategies and optimized screening programs.
• PRS testing supports a personalized, risk-based approach to breast cancer care, improving patient outcomes.