Decoding Breast Cancer Genes: Your Guide to Therapeutic Testing
"Understanding BRCA and beyond: A European consensus on genetic counselling and therapeutic decision-making in breast cancer."
Breast cancer affects a significant number of women globally, with a lifetime risk varying across different regions. For those with a family history or genetic predispositions, such as carrying a BRCA1 or BRCA2 mutation, the risk is even higher. Understanding your individual risk is crucial, and genetic testing plays a vital role in assessing this risk and guiding preventative measures.
Traditionally, knowing your BRCA1/2 status has been important for assessing cancer risks and making decisions about early detection and preventative surgeries. But now, genetic information is also impacting treatment strategies. Women with BRCA mutations may choose more aggressive surgical options or benefit from targeted therapies like PARP inhibitors.
Next-generation sequencing (NGS) allows for faster and more comprehensive genetic testing, analyzing BRCA1/2 and other genes linked to breast cancer risk. This opens doors for personalized treatment plans. However, the increasing demand for testing raises questions about infrastructure, resources, and how to effectively integrate genetic information into breast cancer care. To address these concerns, a panel of European experts convened to develop consensus recommendations for genetic counseling and testing in the context of metastatic breast cancer.
Why Genetic Counseling and Testing Are More Important Than Ever
An international panel of experts from 17 European countries and Israel gathered to discuss the increasing need for BRCA testing and counseling. The group recognized that as high-throughput testing platforms become more accessible and PARP inhibitors gain traction, there will be a surge in the demand for genetic services. The experts voiced concerns that the existing shortage of genetic counselors could worsen, potentially affecting the quality of care for individuals and families with a history of breast or ovarian cancer.
- Therapeutic Setting: For patients with a suspected genetic predisposition, BRCA1/2 testing should be done after a breast cancer diagnosis, regardless of hormone receptor or HER2 status, especially if the results will influence treatment decisions.
- Predictive and Therapeutic Setting: Genetic testing should focus on individuals with a personal or family history suggestive of BRCA1/2 mutations, and should consider other high-risk genes.
- Reporting of Variants: Pathological variants (class IV and V) in high-risk genes should always be reported. Class III variants (variants of unknown significance) should also be reported, clearly stating the current lack of clinical utility.
- Re-Contacting: Genetic counseling should inform patients that they may be contacted in the future if new information changes the classification of a variant.
The Future of Genetic Testing in Breast Cancer
The experts envision a future where genetic testing is seamlessly integrated into breast cancer care, guiding both preventative and therapeutic strategies. While challenges remain in terms of resources and infrastructure, these consensus recommendations provide a roadmap for optimizing genetic services and ensuring that patients receive the best possible care. Prioritizing BRCA1/2 testing for a larger number of potential carriers, rather than using large gene panels on a smaller number of individuals, will help in this goal.