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

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Cascade testing for hereditary breast cancer is underutilized in Latin America due to access and system barriers. Local initiatives and policy support are crucial for expanding this vital cancer prevention strategy.

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Area of Science:

  • Oncology
  • Genetics
  • Public Health

Background:

  • Breast cancer poses a significant global health challenge, with a high burden in Latin America (LATAM).
  • Genetic risk assessment and germline molecular testing identify individuals with pathogenic variants in actionable genes.
  • Cascade testing, screening at-risk relatives, is key for hereditary breast cancer prevention and early detection.

Purpose of the Study:

  • To review the current status of cascade testing for breast cancer patients in Latin America.
  • To identify barriers hindering cascade testing implementation in the region.
  • To explore opportunities for expanding cascade testing in Latin America.

Main Methods:

  • This study is a review examining the implementation of cascade testing in Latin America.
  • It analyzes barriers and opportunities for its expansion.
  • It considers the role of emerging technologies like AI and machine learning.

Main Results:

  • Cascade testing adoption in LATAM is limited despite increased awareness of genetic risk assessment.
  • Major barriers include restricted access to genetic services, financial and infrastructural constraints, and sociocultural factors.
  • Successful local initiatives integrate genetic counseling into health systems and educate healthcare providers, showing potential for sustainability.

Conclusions:

  • Integrating cascade testing in Latin America requires locally-driven strategies, public policy support, and healthcare professional commitment.
  • Sustainable approaches must focus on capacity-building, equitable access, and empowering providers.
  • Regionally adapted models can improve hereditary cancer prevention, reducing breast cancer incidence and mortality.