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Clinical and economic benefits of combined genetic and genomic testing strategies to guide treatment decisions for patients with HR+/HER2– breast cancer in the US

Year: 2026
Type: article
Abstract: BACKGROUND: In the US, breast cancer is the most common female cancer. Personalized treatment strategies, informed by genomic assays and germline genetic testing (GGT), can optimize therapeutic decisions and improve patient outcomes along the hormone receptor-positive (HR+), human epidermal growth factor receptor 2-negative (HER2-) breast cancer treatment pathway. PURPOSE: To evaluate the cost-effectiveness of combining molecular tools, including the 21-gene assay, GGT, and comprehensive genomic profiling (CGP) when compared to no testing, to inform the treatment of patients with HR+/HER2- breast cancer from the US societal perspective. METHODS: A health economic model was developed which stratified patients with node-negative (N0) and node-positive (1-3 positive nodes) (N1) early-stage breast cancer according to the 21-gene assay and GGT. Long-term outcomes were simulated using a Markov model. CGP was used to stratify patients who progressed to advanced disease for actionable genomic alterations. Clinical inputs and costs were sourced from published literature. A clinician survey was used for inputs to reflect current US clinical practice. RESULTS: Over a lifetime horizon, the full testing strategy was dominant (more effective and cost-saving) in N0 patients and cost-effective in N1 (ICER = $54,734/QALY) patients. The model estimated quality-adjusted life year (QALY) gains of 0.322 and cost savings of $7,168 for N0 patients and 0.130 QALYs gain and additional costs of $7,109 for N1 patients. Sensitivity analyses supported the robustness of the analysis. CONCLUSION: Compared to no testing, the full testing strategy of genetic and genomic testing was more effective at a lower cost or was cost-effective, supporting the goal to increase the survival and the quality-of-life of women with breast cancer along the cancer care continuum.
Language: English
Open Access status: diamond
OpenAlex ID: W7130503858
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Cites: 50
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