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Abul‐Husn, Noura S.

https://orcid.org/0000-0002-5179-1944

A5087349100 | I98704320

Mayo Clinic

Icahn School of Medicine at Mount Sinai

Citations 3

Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics study

JAMIA Open | October 4, 2025 | Volume: 8 | Issue: 5 | Pages: No page available

10.1093/jamiaopen/ooaf113 | PMID 41140463

Abstract Objectives To implementation an automated multi-institutional pipeline that delivers breast-cancer risk integrated with polygenic risk scores, monogenic variants, family history, and clinical factors, emphasizing operational challenges and their solutions. Materials and Methods A five-stage process was executed at ten sites. Data streams from REDCap surveys, PRS and monogenic reports, and MeTree pedigrees were normalized and forwarded through a REDCap plug-in to the CanRisk API. Results Integrated risk was returned to >10 000 women; 3.6% were ≥25 % lifetime risk and 0.9% carried pathogenic variants. Pipeline generated score aligns well with manual generated ones. Major barriers such as heterogeneous pedigree formats, missing data, edge-case handling, and evolving model versions were identified and resolved through mapping rules, imputations, and iterative testing. Discussion Cross-platform data harmonization and stakeholder alignment were decisive for success. Borderline-risk communication and model-version drift remain open issues. Conclusion Large-scale PRS-integrated breast-cancer risk reporting is feasible but requires robust interoperability standards and iterative governance.
Healthcare Provider Education to Support Integration of Pharmacogenomics in Practice: The Emerge Network Experience

Pharmacogenomics | June 22, 2017 | Volume: 18 | Issue: 10 | Pages: 1013-1025

10.2217/pgs-2017-0038 | PMID 28639489

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

JAMA | January 11, 2016 | Volume: 315 | Issue: 1 | Pages: 47

10.1001/jama.2015.17701 | PMID 26746457