Cascade Testing Among Patients With Breast Cancer: Current Situation and Challenges in Latin America

Breast cancer is a significant public health issue worldwide, with a particularly high impact in Latin America (LATAM). Genetic risk assessment and germline molecular testing for pathogenic variants in actionable genes are established practices for managing breast cancer risk. Cascade testing, genetic testing of at-risk relatives of individuals carrying these variants, provides a pivotal strategy for cancer prevention and early detection.

This review examines the status of cascade testing among patients with breast cancer in LATAM, highlighting the barriers to its implementation and identifying opportunities to expand its application in the region.

Despite growing awareness of the importance of genetic risk assessment, the adoption of cascade testing remains limited in LATAM. Key barriers include restricted access to genetic services, financial and infrastructural limitations within public health systems, and sociocultural factors. However, locally driven initiatives that integrate genetic counseling into national health systems and emphasize education for health care providers have demonstrated the potential to foster long-term sustainability. The role of artificial intelligence and machine learning in genetic counseling is emerging, offering possible solutions to optimize cascade testing, but further evidence is required to assess their impact across diverse populations.

The successful integration of cascade testing into Latin American health care systems requires strategies rooted in local initiatives, supported by public policies, and driven by health care professionals committed to changing paradigms in cancer prevention. Sustainable approaches should prioritize capacity-building, equitable access to genetic services, and the empowerment of health care providers to recognize the transformative impact of genetic counseling on patient outcomes. By fostering regionally adapted models, LATAM can enhance hereditary cancer prevention and ultimately reduce breast cancer incidence and mortality.