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Updated: Jul 21, 2025

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
Published on: February 28, 2021
Efficacy of implementing a BRCA screening protocol in primary care
Yasmin Rivera-Nunez1, Diane L Smith2
1Northwell Health Physician Partners Family Medicine, Lynbrook , New York.
Provider education on BRCA mutations significantly increased breast and ovarian cancer screenings and genetic referrals. This initiative improved healthcare provider knowledge and tool utilization for early detection of hereditary cancer risks.
Area of Science:
- Genetics and Genomics
- Oncology
- Preventive Medicine
Background:
- Breast and ovarian cancers pose significant health risks, with mutations in BRCA1 and BRCA2 genes substantially elevating susceptibility.
- Early detection through screening and genetic counseling is crucial for managing hereditary cancer risk.
- Healthcare provider knowledge gaps regarding BRCA mutations can impede timely screening and referrals.
Purpose of the Study:
- To enhance healthcare provider knowledge concerning BRCA1 and BRCA2 mutations.
- To promote the utilization of BRCA screening tools and increase genetic referrals for at-risk patients.
- To evaluate the impact of targeted education on provider confidence, screening practices, and referral rates.
Main Methods:
- An Institutional Review Board-approved educational intervention was delivered to healthcare providers.
- Training included a standardized webinar and multimodal educational materials focusing on BRCA mutations, screening, and referral protocols.
- Data on provider knowledge, confidence, BRCA screenings, and genetic referrals were collected via the electronic health record (EHR).
Main Results:
- Eight providers (five nurse practitioners, three medical doctors) completed the training.
- A total of 56 patients underwent BRCA screening, leading to four referrals for genetic counseling.
- The educational program demonstrably enhanced provider knowledge, increased the use of screening tools, and improved genetic referral rates.
Conclusions:
- Targeted education effectively improves healthcare provider understanding and application of BRCA mutation screening and referral pathways.
- Enhanced provider knowledge and confidence correlate with increased patient screenings and timely genetic referrals, facilitating early detection of hereditary cancers.
- Integration of EHR monitoring is valuable for tracking the impact of educational initiatives on clinical practice and patient outcomes.
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