Purpose: This study aims to evaluate the impact of South Korea’s national insurance coverage (NIC) expansion and the addition of genetic counselors onBRCA1/2mutation testing rates in breast cancer patients. Materials and Methods: A retrospective review was conducted at the Samsung Medical Center (SMC), dividing patients into three groups: pre-NIC expansion, post-NIC expansion, and post-extra genetic counselor involvement. The number ofBRCA1/2tests performed and the detection rates among newly diagnosed and follow-up patients, particularly focusing on triple-negative breast cancer (TNBC) cases, were analyzed. Results: Post-NIC expansion, there was a significant increase inBRCA1/2testing rates, with a gradual rise in detection rates while maintaining statistical significance. TNBC patients under 60 experienced substantial increases in testing rates. The number of follow-up patients recalled for testing also rose significantly after the extra genetic counselor involvement. Additionally, NIC expansion increased insurance coverage for TNBC patients, enhancing accessibility to testing. Conclusion: The study highlights the positive impact of NIC expansion and genetic counselor involvement onBRCA1/2mutation testing rates and subsequent patient management. Addressing financial barriers to testing and incorporating genetic counseling significantly improve patient outcomes. This model provides a potential strategy for enhancing early detection and personalized treatment for breast cancer patients withBRCA1/2mutations, contributing to global cancer management efforts.
目的：本研究旨在评估韩国国家医保覆盖范围扩大及增设遗传咨询师对乳腺癌患者BRCA1/2基因突变检测率的影响。材料与方法：在三星医疗中心开展回顾性研究，将患者分为三组：医保扩围前组、医保扩围后组及增设遗传咨询师后组。分析新诊断患者与随访患者（特别关注三阴性乳腺癌病例）的BRCA1/2检测数量及突变检出率。结果：医保扩围后，BRCA1/2检测率显著提升，突变检出率在保持统计学显著性的同时呈现渐进式增长。60岁以下三阴性乳腺癌患者的检测率大幅提高。增设遗传咨询师后，召回随访患者进行检测的数量也显著增加。此外，医保扩围提升了对三阴性乳腺癌患者的检测费用覆盖，增强了检测可及性。结论：本研究证实医保政策扩围与遗传咨询师介入对提升BRCA1/2基因检测率及后续患者管理具有积极作用。消除检测经济障碍并整合遗传咨询服务能显著改善患者预后。该模式为提升BRCA1/2突变乳腺癌患者的早期检测与个性化治疗提供了可行策略，为全球癌症防治工作贡献了实践依据。
肿瘤(癌症)患者之家