Batool Zahra, Kamal Mohammad Amjad, Shen Bairong
Joint Laboratory of Artificial Intelligence for Critical Care Medicine, Department of Critical Care Medicine and Institutes for Systems Genetics, Frontiers Science Center for Disease-Related Molecular Network, West China Hospital, Sichuan University, A-10, No.17, Tianfu Avenue, Shangliu Distinct, Chengdu, 610002, China.
King Fahd Medical Research Center, King Abdulaziz University, 21589, Jeddah, Saudi Arabia.
Breast Cancer. 2025 Mar;32(2):258-277. doi: 10.1007/s12282-024-01660-9. Epub 2024 Dec 17.
Understanding individuals at high risk of breast cancer, as well as patients and survivors, underscores the critical role of genetic counseling in the diagnosis and treatment of breast cancer.
This systematic review adhered to the guidelines outlined in the Reporting Items for Systematic Review and Meta-Analysis (PRISMA). The review process was managed using Covidence systematic review software, facilitating data extraction according to predefined eligibility criteria by two independent reviewers. Quality appraisal and narrative synthesis were conducted following data extraction.
Out of 1089 articles screened, nineteen (19) studies met the inclusion criteria and were included in this review. These studies were categorized into categories based on their relevance to breast cancer genetic counseling. Rapid Genetic Counseling and Testing (RGCT): 3 studies (15.78%), racial differences: 2 studies (10.52%), limited health literacy: 4 studies (21.05%), breast cancer survivorship: 3 studies (15.78%), risk perceptions and cancer worry: 5 studies (26.31%) and telephone delivery and computer aid programs: 2 studies (10.52%) based on specific focus areas of each study in relation to breast cancer genetic counseling.
Genetic counseling has shown to improve client outcomes across the majority of reviewed studies, contributing to the advancement of evidence-based practice in this field. However, to further promote evidence-based advancements in breast cancer genetic counseling, it is imperative to pay close attention to potential sources of bias and uphold rigorous quality standards in future research endeavors.
了解乳腺癌高危个体以及患者和幸存者，凸显了遗传咨询在乳腺癌诊断和治疗中的关键作用。
本系统评价遵循系统评价与Meta分析报告规范（PRISMA）中概述的指南。使用Covidence系统评价软件管理评价过程，由两名独立评价者根据预定义的纳入标准进行数据提取。数据提取后进行质量评估和叙述性综合分析。
在筛选的1089篇文章中，19项研究符合纳入标准并被纳入本评价。这些研究根据其与乳腺癌遗传咨询的相关性进行分类。快速遗传咨询与检测（RGCT）：3项研究（15.78%），种族差异：2项研究（10.52%），健康素养有限：4项研究（21.05%），乳腺癌幸存者：3项研究（15.78%），风险认知与癌症担忧：5项研究（26.31%），电话服务与计算机辅助项目：2项研究（10.52%），基于每项研究与乳腺癌遗传咨询相关的特定重点领域。
在大多数纳入评价的研究中，遗传咨询已显示能改善服务对象的结局，有助于该领域循证实践的发展。然而，为进一步推动乳腺癌遗传咨询的循证进展，必须密切关注潜在的偏倚来源，并在未来的研究工作中坚持严格的质量标准。
