Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study.

ABSTRACT:

Objective

To develop and implement a pipeline for integrated breast cancer risk assessment using the BOADICEA model within the eMERGE study, incorporating polygenic risk scores (PRS), monogenic variants, family history, and clinical factors.

Materials and methods

A pipeline was deployed across ten eMERGE clinical sites, integrating data from REDCap surveys, PRS reports, monogenic reports, and pedigrees via CanRisk Application Programming Interface (API). The process included design, customization, technical implementation, testing, and refinement.

Results

The pipeline successfully generated integrated risk scores for >10,000 females. Of these, 3.6% were classified as high-risk (≥25% lifetime risk), and 0.9% harbored rare pathogenic variants in BRCA1, BRCA2, PALB2, or

SUBMITTER: Liu C 

PROVIDER: S-EPMC12258737 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature