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Health Care Equity and BRCA1/2 Testing.
1Winston-Salem, North Carolina, USA.
Health Equity
|March 24, 2025
Summary
Genetic testing for BRCA1/2 pathogenic germline variants (PGVs) is crucial for cancer prevention and early diagnosis. Disparities exist in offering this testing to breast cancer patients, highlighting a need for expanded guidelines.
Area of Science:
- Oncology
- Genetics
- Public Health
Background:
- Most cancers are sporadic, but inherited pathogenic germline variants (PGVs) contribute significantly.
- BRCA1 and BRCA2 PGVs are common, predisposing individuals to cancers like breast and ovarian.
- Current guidelines recommend specific preventive measures for BRCA1/2 carriers.
Purpose of the Study:
- To review disparities in BRCA1/2 PGV testing offered to breast cancer patients.
- To discuss expanding BRCA1/2 testing guidelines to all breast cancer patients.
- To explore Cancer Moonshot 2.0 Initiative measures for mitigating testing disparities.
Main Methods:
- Review of existing reports on BRCA1/2 PGV testing disparities.
- Analysis of current cancer prevention and diagnosis guidelines.
- Discussion of proposed strategies for expanding testing and reducing disparities.
Main Results:
- Significant disparities exist in the offer and uptake of BRCA1/2 PGV testing among breast cancer patients.
- Current guidelines recommend specific interventions like oophorectomy and MRI screening for carriers.
- Cascade testing is recommended for family members identified as carriers.
Conclusions:
- Expanding BRCA1/2 testing to all breast cancer patients is essential.
- Implementing Cancer Moonshot 2.0 measures can help address testing disparities.
- Standardizing testing improves cancer prevention and early detection for at-risk individuals.
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