Academic Journal
Preoperative Germline Genetic Testing and Surgical Timing in Breast Cancer: Implementation of National Reimbursement Programs: A Retrospective Cohort Study.
| Τίτλος: | Preoperative Germline Genetic Testing and Surgical Timing in Breast Cancer: Implementation of National Reimbursement Programs: A Retrospective Cohort Study. |
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| Συγγραφείς: | Vlad IC; Department of Oncology, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400347 Cluj-Napoca, Romania.; Department of Surgical Oncology, The Oncology Institute 'Prof. Dr. Ion Chiricuță', 400015 Cluj-Napoca, Romania., Vlad CI; Department of Surgical Oncology, The Oncology Institute 'Prof. Dr. Ion Chiricuță', 400015 Cluj-Napoca, Romania., Balacescu O; Department of Genetics, Genomics and Experimental Pathology, The Oncology Institute 'Prof. Dr. Ion Chiricuță', 400015 Cluj-Napoca, Romania., Gata VA; Department of Oncology, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400347 Cluj-Napoca, Romania.; Department of Surgical Oncology, The Oncology Institute 'Prof. Dr. Ion Chiricuță', 400015 Cluj-Napoca, Romania., Morariu DS; Department of Surgical Oncology, The Oncology Institute 'Prof. Dr. Ion Chiricuță', 400015 Cluj-Napoca, Romania., Miclaus M; Department of Oncogenetics, The Oncology Institute 'Prof. Dr. Ion Chiricuță', 400015 Cluj-Napoca, Romania., Muntean AL; Department of Medical Education, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400347 Cluj-Napoca, Romania., Catana A; Department of Oncogenetics, The Oncology Institute 'Prof. Dr. Ion Chiricuță', 400015 Cluj-Napoca, Romania.; Department of Molecular Sciences, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400347 Cluj-Napoca, Romania., Antone N; Department of Medical Oncology, The Oncology Institute 'Prof. Dr. Ion Chiricuță', 400015 Cluj-Napoca, Romania., Achimas-Cadariu P; Department of Oncology, University of Medicine and Pharmacy 'Iuliu Hațieganu', 400347 Cluj-Napoca, Romania.; Department of Surgical Oncology, The Oncology Institute 'Prof. Dr. Ion Chiricuță', 400015 Cluj-Napoca, Romania. |
| Πηγή: | Medicina (Kaunas, Lithuania) [Medicina (Kaunas)] 2026 Jul 19; Vol. 62 (7). Date of Electronic Publication: 2026 Jul 19. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 9425208 Publication Model: Electronic Cited Medium: Internet ISSN: 1648-9144 (Electronic) Linking ISSN: 1010660X NLM ISO Abbreviation: Medicina (Kaunas) Subsets: MEDLINE |
| Imprint Name(s): | Publication: 2018- : Basel, Switzerland : MDPI Original Publication: Kaunas : Lietuvos gydytojų sąjunga |
| Ιατρικοί όροι (MeSH): | Breast Neoplasms*/surgery , Breast Neoplasms*/genetics , Breast Neoplasms*/diagnosis , Genetic Testing*/methods , Genetic Testing*/statistics & numerical data , Genetic Testing*/standards , Genetic Testing*/economics, Preoperative Care/methods ; Humans ; Female ; Retrospective Studies ; Middle Aged ; Cohort Studies ; Adult ; Time Factors ; Aged ; Germ-Line Mutation |
| Περίληψη: | Background and Objectives: Over recent decades, germline genetic testing has become increasingly integrated into breast cancer care, yet its precise effect on the timing of surgical workflows remains incompletely defined. This study investigates the implementation of nationally reimbursed genetic testing programs and examines how the scheduling of multigene germline testing relates to surgical timing. Materials and Methods: In this retrospective cohort analysis, we examined 502 breast cancer cases from the institutional registry of the "Ion Chiricuță" Oncology Institute (IOCN), with a mean age of 52 years, a high rate of neoadjuvant therapy (82.3%) and a majority of them in T2 (52%) and N1 (43%), N2 (29%) clinical stage: 263 patients from an earlier private-practice pay testing era (pre-reimbursement) as a comparison sample and 239 patients from the period when reimbursement programs were in operation. We then evaluated the benefits of state-funded genetic testing initiatives, computing three intervals: diagnosis to genetic test, genetic test to surgery, and diagnosis to surgery. Patients were categorized by timing of multigene testing (preoperative vs. postoperative), receipt of neoadjuvant systemic therapy (NACT), mutation status, and funding source for testing (national PNS program funded by the Romanian Ministry of Health; PNRR European Recovery and Resilience Facility funds; or self-funded private testing). Nonparametric statistics (Mann-Whitney U, Spearman correlation) and effect-size metrics (Cliff's delta, Theil-Sen slope) were employed. Results: The median diagnosis-to-surgery interval was 203 days (IQR 179-230). Patients tested preoperatively had longer intervals than those tested postoperatively (216 vs. 182.5 days; p = 0.000153; Cliff's δ = -0.486), a pattern driven by shared pathways involving NACT rather than by testing-induced delays. NACT was the principal determinant of surgical timing (211 vs. 43 days; p = 302.55 × 10-11). Within the preoperative subgroup, time to multigene testing correlated strongly with time to surgery (Spearman ρ = 0.54; p = 4.75 × 10-7; Theil-Sen slope = 0.37, 95% CI = 0.22-0.53). However, the no-NACT group included only four patients. The presence of a pathogenic variant did not significantly change surgical timing (p = 0.982). The PNS national reimbursement program achieved the highest preoperative integration rate for multigene genetic testing after adjustment for NACT confounder (76.7%), outperforming PNRR (61%) and private practice (56%). Conclusions: While genetic testing timing correlates with surgical workflow, neoadjuvant systemic therapy pathways and program structure exert greater influence than testing per se. Structured national programs enhance preoperative testing uptake without causing delays beyond those inherent to NACT pathways. |
| Contributed Indexing: | Keywords: BRCA1; BRCA2; breast cancer; genetic testing; neoadjuvant systemic therapy; precision oncology; surgical timing; surgical workflow |
| Entry Date(s): | Date Created: 20260728 Date Completed: 20260729 Latest Revision: 20260731 |
| Update Code: | 20260731 |
| PubMed Central ID: | PMC13413821 |
| DOI: | 10.3390/medicina62071397 |
| PMID: | 42512939 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1648-9144 |
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| DOI: | 10.3390/medicina62071397 |