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Advancing Germline Genetic Testing for Breast Cancer in Resource-Restricted Settings: Evidence, Barriers, and a

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Summary

Germline genetic testing (GGT) for breast cancer is crucial for personalized treatment and prevention. Challenges in resource-restricted settings require tailored strategies for equitable access and effective implementation.

Keywords:
BRCA1BRCA2breast cancergenetic counsellinggenetic testingresource-restricted countries

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Area of Science:

  • Oncology
  • Genetics
  • Public Health

Background:

  • Germline genetic testing (GGT) is increasingly vital in breast cancer management.
  • Implementation in resource-restricted settings presents significant challenges.

Purpose of the Study:

  • To review current evidence and international guidelines on GGT in breast cancer.
  • To highlight clinical utility, evolving testing criteria, and implementation hurdles, using Jordan as a case study.
  • To discuss the implications of expanded testing criteria in low- and middle-income countries.

Main Methods:

  • Narrative review of existing literature and international guidelines.
  • Analysis of GGT's role in systemic therapy, surgical decisions, and cascade testing.
  • Examination of challenges including infrastructure, cost, and variant interpretation in resource-limited contexts.

Main Results:

  • Approximately 10% of breast cancer patients harbor germline pathogenic variants, primarily in BRCA1/BRCA2.
  • Expanded international guidelines recommend testing up to age 65 or even universal testing.
  • Low- and middle-income countries face challenges in meeting expanded criteria due to resource limitations.

Conclusions:

  • GGT is a cornerstone of precision oncology and hereditary cancer prevention, particularly for early-onset breast cancer.
  • Context-adapted strategies are essential to balance the benefits of expanded testing with feasibility and sustainability.
  • Multidisciplinary coordination and equitable access are critical for successful GGT implementation worldwide.