Clinical Validity and Utility of Epigenomic Profiling in Breast Cancer: Lessons for Population Screening and Policy

Nagawa Jackline Irene

Department of Clinical Medicine and Dentistry Kampala International University Uganda

Email: irene.nagawa@studwc.kiu.ac.ug

ABSTRACT

Breast cancer risk is shaped not only by inherited genetic variation but also by dynamic and potentially reversible epigenomic modifications that reflect environmental exposures, ageing, and life-course influences. Epigenomic profiling, particularly DNA methylation analysis, has emerged as a promising tool for breast cancer risk stratification, early detection, and personalized screening strategies. This review examines the clinical validity and clinical utility of epigenomic biomarkers in breast cancer and explores their implications for population screening and health policy. We discuss current epigenomic technologies, the biological basis of methylation-based risk prediction, and evidence supporting their capacity to identify individuals at elevated lifetime or early-onset breast cancer risk. The potential of epigenomic profiling to complement or transform mammography-based screening through personalized, risk-adapted pathways is critically assessed. Broader population-level considerations, including ethical, legal, economic, and health-system implementation challenges, are examined through lessons drawn from existing national screening programs. While epigenomic screening offers advantages in accessibility, acceptability, and predictive performance, significant barriers remain, including standardization, cost-effectiveness evaluation, regulatory oversight, and equitable access. Advancing epigenomic profiling from bench to population-level deployment will require robust longitudinal validation, multidisciplinary collaboration, and policy frameworks that balance innovation with public trust and health equity.

Keywords: Epigenomics, Breast Cancer Screening, DNA Methylation, Risk Stratification, and Health Policy.

CITE AS: Nagawa Jackline Irene (2026). Clinical Validity and Utility of Epigenomic Profiling in Breast Cancer: Lessons for Population Screening and Policy. IAA  Journal of Applied Sciences 14(1):79-83. https://doi.org/10.59298/IAAJAS/2026/1417983