A groundbreaking prospective study has demonstrated the significant clinical impact of HER2DX®, a genomic diagnostic test specifically designed for early-stage HER2-positive breast cancer. The study, published in ESMO Real World Data and Digital Oncology, represents the first real-world investigation assessing how HER2DX® results influence treatment decision-making in clinical practice.
Led by Dr. Olga Martínez-Sáez, Dr. Juan Miguel Cejalvo, and Dr. Antonio Llombart-Cussac, the research evaluated 297 patients with stage I-III HER2+ breast cancer across multiple Spanish hospitals. The findings revealed that HER2DX® led to treatment plan modifications in 48.1% of cases, with most changes (75.5%) resulting in reduced treatment intensity—specifically, decreased chemotherapy and/or anti-HER2 therapy—without compromising patient outcomes.
Precision Medicine Impact on Treatment Decisions
The study demonstrated that HER2DX® provides crucial predictive capabilities, accurately identifying patients with a higher likelihood of achieving pathologic complete response (pCR). This predictive power reinforces the test's value as an essential tool in therapy selection for HER2+ breast cancer patients.
"This study represents a significant step forward in personalized oncology," said Dr. Olga Martínez Sáez, breast medical oncologist at Clinic Barcelona Comprehensive Cancer Center and Principal Investigator of the study. "HER2DX® enables physicians to make precision-guided decisions with greater confidence, improving patient care."
Oncologists reported substantially increased confidence when making treatment decisions based on HER2DX® data, highlighting the test's role in enhancing clinical judgment. The study also revealed economic benefits of incorporating HER2DX® into clinical practice, with healthcare cost savings related to drug expenses and vein access requirements.
Transforming HER2+ Breast Cancer Management
Dr. Juan Miguel Cejalvo, breast medical oncologist at Hospital Clínico Universitario de Valencia/INCLIVA and co-Principal Investigator, emphasized the importance of integrating genomic tools into routine clinical practice: "These results confirm that HER2DX® provides valuable information that can refine treatment strategies, allowing for more personalized care while maintaining excellent outcomes."
HER2+ breast cancer accounts for approximately 20% of all diagnosed breast tumors, representing more than 390,000 new cases worldwide annually—roughly three women diagnosed every four minutes. The disease is clinically and biologically heterogeneous, with standard clinical-pathological assessment often insufficient to capture this complexity.
"The capacity to forecast a patient's therapeutic response prior to treatment initiation allows oncologists to adjust treatment intensity appropriately, effectively reducing unnecessary toxicity and healthcare costs," noted Dr. Antonio Llombart-Cussac, head of the medical oncology department at Hospital Arnau de Vilanova in Valencia and study investigator.
Comprehensive Genomic Assessment
HER2DX®, marketed by REVEAL GENOMICS® since January 2022, is a standardized 27-gene expression test for patients with early-stage HER2+ breast cancer. The test integrates clinical information (tumor size and nodal status) with biological data tracking immune response, luminal differentiation, tumor cell proliferation, and expression of the HER2 17q12-21 chromosomal amplicon, including the ERBB2 gene.
The test provides three key predictive scores:
- Risk of relapse score (high vs. low): predicting recurrence risk in newly diagnosed patients
- pCR likelihood score (high vs. medium vs. low): estimating response probability to anti-HER2-based treatment before surgery
- ERBB2 score (high vs. medium vs. low): quantifying ERBB2 mRNA expression across HER2-negative, HER2-low, and HER2+ breast cancer
Patricia Villagrasa, CEO of REVEAL GENOMICS®, underscored the company's mission: "Our goal is to revolutionize cancer care with cutting-edge genomic insights, helping oncologists make more informed decisions and benefiting patients. The results of this first clinical utility study confirms HER2DX® as a key tool in precision medicine for HER2+ breast cancer."
Advancing Precision Oncology
REVEAL GENOMICS, S.L., a Barcelona-based biotechnology start-up, focuses on developing innovative diagnostic tools that optimize therapeutic decision-making for cancer patients. The company leverages advanced genomic technologies, sophisticated computational algorithms, and machine learning to generate novel insights into cancer biology and treatment response.
In addition to HER2DX®, the company has developed TNBCDX® and DNADX®, state-of-the-art genomic assays providing prognostic and predictive information to guide personalized cancer treatment strategies. REVEAL GENOMICS is a spin-off of Hospital Clínic of Barcelona, IDIBAPS, the University of Barcelona, and the Vall d'Hebron Institute of Oncology, bringing together expertise from leading academic and clinical institutions to advance precision oncology.
The study's findings represent a significant advancement in personalized medicine for HER2+ breast cancer patients, offering a more tailored approach to treatment that can reduce unnecessary interventions while maintaining efficacy and potentially lowering healthcare costs.
