Population Genomics for Breast Cancer: Return of Results, Cascade Testing, and Health System Readiness from Bench-to-Population Perspectives

Ssenkayi Julius

Department of Pharmacy Kampala International University Uganda

Email:Julius.ssenkayi@studwc.kiu.ac.ug

ABSTRACT

Population genomics is reshaping breast cancer prevention by enabling the identification of individuals and families at elevated genetic risk before disease onset. Advances in genomic technologies have made population-scale screening for high-penetrance breast cancer susceptibility genes, particularly BRCA1 and BRCA2, increasingly feasible. However, translating discoveries from bench to population requires careful attention to the return of results, cascade testing of at-risk relatives, and the readiness of health systems to deliver these interventions equitably and effectively. This review examines population genomics for breast cancer through a bench-to-population framework, synthesizing evidence on strategies for returning genomic results, facilitating cascade testing, and addressing ethical, legal, social, and implementation challenges. We highlight the complexity of communicating genomic risk, managing uncertain and secondary findings, and ensuring informed consent in population-level contexts. Persistent barriers to cascade testing uptake, including reliance on proband-mediated communication, health system constraints, socioeconomic inequities, and cultural factors, are examined alongside emerging interventions and quality-improvement frameworks. Drawing on international case studies and national pilot programs, we assess health system readiness across infrastructure, workforce capacity, data governance, reimbursement, and policy environments. Finally, we identify key research priorities and future directions to support equitable, scalable, and sustainable population genomics initiatives. Integrating return-of-results strategies, cascade testing, and health system preparedness is essential to realizing the public health potential of population genomics for breast cancer prevention while minimizing harm and exacerbation of existing health inequities.

Keywords: Population genomics, Breast cancer, Return of genomic results, Cascade testing, and Health system readiness.

CITE AS: Ssenkayi Julius (2026). Population Genomics for Breast Cancer: Return of Results, Cascade Testing, and Health System Readiness from Bench-to-Population Perspectives. IAA Journal of Biological Sciences 14(1):133-141. https://doi.org/10.59298/IAAJB/2026/141133141