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Germline Genetic Testing: What the Breast Surgeon Needs to Know
Jennifer K Plichta1, Molly L Sebastian2, Linda A Smith3
1Department of Surgery, Duke University Medical Center, Durham, NC, USA.
Annals of Surgical Oncology
|April 4, 2019
Summary
Breast surgeons can now access new guidelines on incorporating genetic testing for hereditary breast cancer genes like BRCA1 and BRCA2 into their practice. These guidelines aim to improve patient care and outcomes through informed genetic counseling and management.
Area of Science:
- Oncology
- Genetics
- Surgical Oncology
Background:
- Genetic mutations, such as in BRCA1 and BRCA2, significantly increase breast cancer risk.
- Widespread availability of genetic testing offers potential benefits for many women.
- Breast surgeons play a crucial role in facilitating genetic testing for their patients.
Purpose of the Study:
- To develop educational guidelines for breast surgeons.
- To facilitate the integration of genetic information and genomics into surgical practice.
- To provide essential knowledge for germline genetic testing and its application.
Main Methods:
- A nonsystematic review of relevant peer-reviewed literature.
- Convening of the American Society of Breast Surgeons (ASBrS) Genetics Working Group.
- Development of guideline recommendations based on expert consensus.
Main Results:
- Clinical and educational guidelines have been prepared and approved by the ASBrS Board of Directors.
- Guidelines outline essential knowledge for breast surgeons regarding genetic testing.
- Recommendations cover patient identification, testing, interpretation, and management.
Conclusions:
- Thousands of women could benefit from genetic testing for high-risk breast cancer genes.
- Awareness and consideration of genetic testing are crucial for at-risk populations.
- Breast surgeons are pivotal in guiding patients through genetic testing and management pathways.
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