Purpose of Review <p>This review examines universal genetic testing (UGT) in breast cancer, evaluating its clinical benefits, feasibility, cost-effectiveness, and integration with personalized screening.</p> Recent Findings <p>UGT identifies pathogenic variants in patients who do not meet guideline-based criteria, enabling personalized treatment, targeted therapies, and cascade testing for relatives. High uptake has been achieved in diverse clinical settings, particularly with multidisciplinary support or telehealth counseling. Population-based genetic testing is cost-effective, and may prevent breast and ovarian cancer cases. Challenges include limited provider access, variable insurance coverage, frequent detection of variants of uncertain significance, and persistent racial and ethnic disparities. Trials such as WISDOM show that combining UGT with risk-stratified screening can optimize early detection and reduce incidence and mortality.</p> Summary <p>UGT is a feasible, cost-effective, and clinically impactful tool that enhances precision breast cancer care and supports personalized prevention strategies.</p>

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Universal Genetic Testing in Breast Cancer: A Review of the Current Landscape

  • Tess C. Huy,
  • Siu-Yuan Huang,
  • Mediget Teshome

摘要

Purpose of Review

This review examines universal genetic testing (UGT) in breast cancer, evaluating its clinical benefits, feasibility, cost-effectiveness, and integration with personalized screening.

Recent Findings

UGT identifies pathogenic variants in patients who do not meet guideline-based criteria, enabling personalized treatment, targeted therapies, and cascade testing for relatives. High uptake has been achieved in diverse clinical settings, particularly with multidisciplinary support or telehealth counseling. Population-based genetic testing is cost-effective, and may prevent breast and ovarian cancer cases. Challenges include limited provider access, variable insurance coverage, frequent detection of variants of uncertain significance, and persistent racial and ethnic disparities. Trials such as WISDOM show that combining UGT with risk-stratified screening can optimize early detection and reduce incidence and mortality.

Summary

UGT is a feasible, cost-effective, and clinically impactful tool that enhances precision breast cancer care and supports personalized prevention strategies.