意大利治疗患者的 BRCA 检测：与 Senonetwork 相关的乳腺中心的全国性调查。
BRCA Testing for Patients Treated in Italy: A National Survey of Breast Centers Associated with Senonetwork.
机构信息
Breast Unit, IRCCS Humanitas Research Hospital, Via Manzoni 56, 20089 Milan, Italy.
Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, 20072 Milan, Italy.
出版信息
Curr Oncol. 2024 Jun 30;31(7):3815-3825. doi: 10.3390/curroncol31070282.
BACKGROUND
Breast units (BUs) provide breast cancer (BC) care, including prevention, treatment, and genetic assessment. Genetic research has highlighted BRCA1/2 mutations as key hereditary BC risk factors. BRCA testing is crucial for personalized treatment and prevention strategies. However, the integration of BRCA testing in Italian BUs faces multiple challenges. This study, by Senonetwork Italia, aimed to evaluate genetic testing practices and identify obstacles within Italian BUs.
METHODS
Senonetwork Italia conducted a 16-question web-based survey involving 153 BUs. The survey assessed aspects of BRCA testing, including timing, urgency, counseling, patient selection, and multi-gene panels.
RESULTS
Of the 153 BUs, 109 (71.2%) responded. Testing before surgery was performed by 70.6% of centers, with urgent cases acknowledged by 87.2%. Most centers (56.0%) arranged urgent pre-test counseling within a week. BRCA mutation status influenced treatment decisions in 99.1% of cases. Multi-gene panels were used by 33.0% of centers for all genetic counseling cases, while 56.0% followed standard referral criteria. The main challenges included cost, reimbursement, and reporting timelines.
CONCLUSIONS
This survey highlights significant variations in BRCA testing practices across Italian BUs and identifies key logistical and financial challenges. There is a need for standardized practices of genetic testing to ensure personalized and effective BC management in Italy.
背景
乳腺科（BUs）提供乳腺癌（BC）护理，包括预防、治疗和遗传评估。遗传研究强调 BRCA1/2 突变是关键的遗传性 BC 风险因素。BRCA 检测对于个性化治疗和预防策略至关重要。然而，BRCA 检测在意大利 BUs 中的整合面临着多个挑战。这项由 Senonetwork Italia 进行的研究旨在评估意大利 BUs 中的基因检测实践，并确定其中的障碍。
方法
Senonetwork Italia 进行了一项涉及 153 个 BUs 的 16 个问题的在线调查。该调查评估了 BRCA 检测的各个方面，包括检测时机、紧迫性、咨询、患者选择和多基因面板。
结果
在 153 个 BUs 中，有 109 个（71.2%）做出了回应。70.6%的中心在手术前进行检测，87.2%的中心承认有紧急情况。大多数中心（56.0%）在一周内安排了紧急的检测前咨询。BRCA 突变状态影响了 99.1%病例的治疗决策。33.0%的中心在所有遗传咨询病例中使用多基因面板，而 56.0%的中心遵循标准转诊标准。主要挑战包括成本、报销和报告时间。
结论
这项调查突出了意大利 BUs 中 BRCA 检测实践的显著差异，并确定了关键的后勤和财务挑战。需要标准化的基因检测实践，以确保在意大利进行个性化和有效的 BC 管理。
Zotero 插件