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oai:recercat.cat:11351/129452025-05-03T03:19:58Zcom_2072_378070com_2072_378040col_2072_378092

Clinical decision impact of HER2DX, an algorithm-powered genomic diagnostic in early-stage HER2-positive breast cancer: results from a prospective real-world study Tapia Céspedes, Marta Marín-Aguilera, Mercedes Hernández-Illán, Eva Tébar, C. Martínez-Puchol, Ana Isabel Martínez-Sáez, Olga Villacampa Javierre, Guillermo Rezqallah Arón , María Alejandra Saura Manich, Cristina Escriva de Romani, Santiago Institut Català de la Salut [Martínez-Sáez O] Translational Genomics and Targeted Therapies in Solid Tumors, August Pi I Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain. Department of Medical Oncology, Cancer Institute and Blood Disorders, Hospital Clinic of Barcelona, Barcelona, Spain. Department of Medicine, University of Barcelona, Barcelona, Spain. [Tapia M, Tébar C] Medical Oncology Department, Hospital Clínico Universitario de Valencia (INCLIVA), Valencia, Spain. [Marín-Aguilera M] Reveal Genomics, Barcelona, Spain. [Hernández-Illán E, Martinez-Puchol AI] Core Molecular Laboratory, Hospital Clinic of Barcelona, Barcelona, Spain. [Villacampa G] Statistics Unit, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Rezqallah A, Escrivà S] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Saura C] SOLTI Breast Cancer Cooperative Group, Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain Vall d'Hebron Barcelona Hospital Campus Cromosomes humans - Anomalies - Diagnòstic Mama - Càncer - Tractament Mama - Càncer - Diagnòstic Genòmica DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms Other subheadings::Other subheadings::Other subheadings::/drug therapy DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms Other subheadings::Other subheadings::/diagnosis DISCIPLINES AND OCCUPATIONS::Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biology::Genomics ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama Otros calificadores::Otros calificadores::/diagnóstico DISCIPLINAS Y OCUPACIONES::disciplinas de las ciencias naturales::disciplinas de las ciencias biológicas::biología::biología computacional::genómica TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas Early breast cancer; HER2 positive; Genomic test Càncer de mama precoç; HER2 positiu; Prova genòmica Cáncer de mama precoz; HER2 positivo; Prueba genómica Background HER2DX is a clinically available genomic assay that provides prognostic (relapse risk score), predictive [pathological complete response (pCR) likelihood score], and ERBB2 expression data in stage I-III human epidermal growth factor receptor 2 (HER2)-positive breast cancer (BC). This real-world study evaluated its clinical impact. Patients and methods This prospective study enrolled newly diagnosed patients with stage I-III HER2-positive BC across 12 hospitals in Spain (November 2021-September 2024). Thirty-four oncologists ordered HER2DX and completed questionnaires before and after receiving results to assess treatment changes (primary objective). Secondary objectives included evaluating the HER2DX pCR likelihood score association with pCR, test turnaround time, changes in physician confidence regarding treatment decisions, and cost-effectiveness. Results Among 297 recruited patients, 48.1% (95% confidence interval 42.5% to 53.7%) experienced treatment adjustments after HER2DX. Within these cases, 73.5% involved reduced treatment intensity, 24.5% involved increased treatment intensity, and the remaining cases (2.0%) involved mixed adjustments. Of the cases with reduced treatment intensity, 56.2% had a reduction in chemotherapy intensity, 26.7% had a reduction in anti-HER2 therapy, and 17.1% in both. Among the 182 patients with available pathological data at surgery, the pCR likelihood score was a significant predictor of pCR (P < 0.001). In 69 patients with pCR-high disease, less intensive treatment achieved similar pCR rates compared with multi-agent chemotherapy (81.5% versus 69.0%; odds ratio = 1.97, P = 0.256). Physician confidence improved (P < 0.001) and the estimated total cost savings, including direct drug costs, vein access devices, and HER2DX costs, amounted to €98 031. Conclusions HER2DX impacts clinical management in stage I-III HER2-positive BC by supporting treatment adjustments, enhancing physician confidence, maintaining pCR rates, and reducing health care costs. FS is supported by a Rio Hortega clinical scientist contract from the Instituto de Salud Carlos III (ISCIII) [grant number CM22/00073]. FBM received funding from Fundación científica AECC Ayudas Investigador AECC 2021 [grant number INVES21943BRAS]. 2025-04-11T12:39:46Z 2025-04-11T12:39:46Z 2025-06 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Martínez-Sáez O, Tapia M, Marín-Aguilera M, Hernández-Illán E, Tébar C, Martinez-Puchol AI, et al. Clinical decision impact of HER2DX, an algorithm-powered genomic diagnostic in early-stage HER2-positive breast cancer: results from a prospective real-world study. ESMO Real World Data Digit Oncol. 2025 Jun;8:100123. 2949-8201 http://hdl.handle.net/11351/12945 10.1016/j.esmorw.2025.100123 http://hdl.handle.net/11351/12945 eng ESMO Real World Data and Digital Oncology;8 https://doi.org/10.1016/j.esmorw.2025.100123 info:eu-repo/grantAgreement/ES/PEICTI2021-2023/CM22%2F00073 Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess application/pdf Elsevier Scientia