Implementing Polygenic Risk Scores for Breast Cancer Prevention: a Feasibility Study
Implementing Polygenic Risk Scores for Breast Cancer Prevention: Protocol for a Feasibility Study in a Real-world Clinical Setting
Catholic University of the Sacred Heart
100 participants
Jun 6, 2025
INTERVENTIONAL
Conditions
Summary
This single-arm interventional feasibility study will evaluate whether integrating polygenic risk scores (PRS) into the CanRisk model can improve breast cancer risk prediction and personalized prevention in women at risk of breast cancer. The study will assess the organizational feasibility, patient acceptance, emotional impact and satisfaction of an integrated pathway combining PRS testing with standard genetic counseling and other risk factors at Fondazione Policlinico Universitario Agostino Gemelli IRCCS.
Eligibility
Plain Language Summary
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This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.
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Interventions
Standard genetic counseling followed by a blood draw (0.5 mL) for DNA extraction. The sample is processed using a high-throughput SNP genotyping platform, and the PRS, based on 313 SNPs, is calculated and integrated into the CanRisk model for refined breast cancer risk stratification. In conjunction with result disclosure, participants complete structured questionnaires to assess psychological impact and risk comprehension (questionnaire by Woof et al.). At the end of the study, both participants and healthcare professionals complete feasibility questionnaires to evaluate the implementation of the PRS-integrated clinical pathway (Care Process Self-Evaluation Tool, CPSET; Vanhaecht et al.).
Locations(1)
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NCT06922708