Using polygenic risk modification to improve breast cancer prevention: study protocol for the PRiMo multicentre
Simone McInerny1,2, Lyon Mascarenhas1,2, Tatiane Yanes3
1Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
BMJ Open
|August 6, 2024
Summary
This trial investigates integrating Polygenic Risk Scores (PRS) with traditional risk factors for breast and ovarian cancer. It aims to improve personalized risk assessment and management for women in familial cancer clinics.
Area of Science:
- Genomics and Cancer Genetics
- Clinical Trial Design
- Personalized Medicine
Background:
- Established risk factors for breast and ovarian cancer exist, with genetic testing for pathogenic variants currently offered.
- Polygenic Risk Scores (PRS) offer a novel approach to personalize cancer risk assessment by evaluating common genomic variants.
- Clinical practice experience with integrated risk assessment combining PRS and traditional factors is limited.
Purpose of the Study:
- To evaluate the effectiveness of an integrated risk assessment model including Polygenic Risk Scores (PRS) compared to standard care for breast and ovarian cancer risk.
- To assess the impact of integrated risk assessment on patient risk management intentions, adherence, and reported outcomes.
- To explore the health service implications of implementing personalized risk assessment in clinical practice.
Main Methods:
- A prospective, multicentre, randomized controlled trial comparing integrated risk assessment (including PRS) with standard care.
- Enrollment of women undergoing predictive genetic testing for hereditary breast and ovarian cancer predisposition genes.
- Utilizing array-based genotyping for breast and ovarian cancer PRS, alongside an online portal for data collection and a clinician education program.
Main Results:
- Long-term follow-up will compare differences in assessed risk and management advice between the integrated risk assessment and standard care groups.
- Evaluation of patient risk management intentions, adherence, and patient-reported outcomes will be conducted.
- Analysis of the health service implications of personalized risk assessment will be performed.
Conclusions:
- The study will provide crucial insights into the clinical utility of integrating Polygenic Risk Scores into breast and ovarian cancer risk assessment.
- Findings are expected to inform the development of more personalized and effective risk management strategies for women at hereditary risk.
- This research addresses the gap in clinical practice experience with integrated risk assessment models.
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