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Next-Generation Sequencing for Advanced Breast Cancer: What the Way to Go?
Dario Trapani1, Edoardo Crimini2,3, José Sandoval4,5
1Division of New Drug Development for innovative therapies, European Institute of Oncology IRCCS, Milan, Italy. dario.trapani@ieo.it.
Abstract:
The rapid implementation of precision medicine tools in diagnosing and treating breast cancer (BC) has widened the potential therapeutic options for patients. The applications of gene sequencing, including next-generation gene sequencing (NGS), have led to numerous questions on how to validate, implement, interpret, prioritize and operationalize precision medicine tools to deliver meaningful and impactful interventions. Limited benefit has been portended with earlier experiences of NGS-driven treatment, in BC. However, the development and use of frameworks of clinical actionability of genomic alterations, for example, detected with NGS, has resulted in better patient selection, and potentially higher therapeutic value. The European Society for Medical Oncology Scale for Clinical Actionability of molecular Targets (ESCAT) is a framework that includes five tiers of clinical actionability, with tier 1 reserved for approved drugs with demonstrated benefits for targetable genomic alterations. The re-analysis of clinical studies by grouping the genomic alterations and matched drugs with ESCAT, in high vs lower tiers has demonstrated a significant benefit portended by high tiers alterations, with the availability of efficacious treatments. As a result, frameworks for actionability, like ESCAT, should be fundamental in developing and implementing NGS-driven, and broadly, precision medicine research and treatments.
Insights
Precision medicine in breast cancer (BC) offers new treatments. Frameworks like the European Society for Medical Oncology Scale for Clinical Actionability of molecular Targets (ESCAT) improve patient selection and therapeutic value using gene sequencing.
Area of Science:
- Oncology
- Genomics
- Precision Medicine
Background:
- Precision medicine and gene sequencing, including next-generation gene sequencing (NGS), are increasingly used in breast cancer (BC) diagnosis and treatment.
- Implementation challenges exist regarding validation, interpretation, and operationalization of these tools for impactful interventions.
Purpose of the Study:
- To evaluate the impact of clinical actionability frameworks on the therapeutic value of NGS-driven treatments in breast cancer.
- To assess the utility of the European Society for Medical Oncology Scale for Clinical Actionability of molecular Targets (ESCAT) in stratifying genomic alterations and guiding treatment selection.
Main Methods:
- Re-analysis of clinical studies by grouping genomic alterations and matched drugs according to the ESCAT framework (five tiers).
- Comparison of therapeutic benefits between high-tier (e.g., tier 1: approved drugs for targetable alterations) and lower-tier alterations.
Main Results:
- Earlier NGS-driven treatments in BC showed limited benefit.
- Frameworks for clinical actionability, such as ESCAT, enhance patient selection and potentially increase therapeutic value.
- High-tier ESCAT alterations demonstrated significant patient benefit, linked to the availability of efficacious treatments.
Conclusions:
- Frameworks like ESCAT are crucial for developing and implementing effective NGS-driven precision medicine research and treatments in breast cancer.
- Standardized actionability frameworks improve the meaningfulness and impact of precision oncology interventions.
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