Disparities in Genetic Management of Breast and Ovarian Cancer Patients.

IF 4.3 4区 医学 Q1 OBSTETRICS & GYNECOLOGY
Susan Duyar-Ayerdi, Rebekah M Summey, Denise Uyar
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引用次数: 0

Abstract

Importance: Hereditary breast and ovarian cancer syndrome (HBOC) is most often caused by pathogenic variants in the BRCA1 or BRCA2 genes. Guidelines exist for genetic testing in patients at high risk, yet significant disparities in genetic testing and management remain. These disparities result in missed opportunities for cancer prevention and treatment.

Objective: This review details the multiple layers of disparities in genomic knowledge, testing referral, completion, and posttesting risk reduction for at-risk populations.

Evidence acquisition: A comprehensive search of the PubMed database was conducted in September 2023 for studies addressing disparities at all points of HBOC risk assessment and risk reduction.

Results: Disparities in genomic knowledge, referral and testing, and in cancer risk reduction exist by race, ethnicity, insurance status, socioeconomic status, age, and care setting in the United States. Many mitigation strategies have been explored with some success.

Conclusion: Each component contributes to a "leaky pipe" in BRCA testing and management whereby patients eligible for intervention trickle out of the pipe due to inequities at each step. Implementation of proven strategies aimed at disparity reduction in this setting is essential, as well as additional strategy development.

Relevance: This review provides clinicians with a comprehensive understanding of disparities in the identification and management of individuals at risk for or diagnosed with HBOC and strategies to reduce disparities in their own practice.

乳腺癌和卵巢癌患者遗传管理中的差异。
重要意义遗传性乳腺癌和卵巢癌综合征(HBOC)最常见的病因是 BRCA1 或 BRCA2 基因中的致病变异。目前已有对高危患者进行基因检测的指南,但在基因检测和管理方面仍存在显著差异。这些差异导致了癌症预防和治疗机会的错失:本综述详细阐述了高危人群在基因组知识、检测转介、检测完成及检测后风险降低等方面存在的多层次差异:2023 年 9 月,我们对 PubMed 数据库进行了一次全面搜索,以查找有关 HBOC 风险评估和风险降低各环节中差异的研究:结果:在美国,不同种族、民族、保险状况、社会经济地位、年龄和医疗环境在基因组知识、转诊和检测以及降低癌症风险方面存在差异。人们探索了许多缓解策略,并取得了一些成功:每个环节都会造成 BRCA 检测和管理中的 "泄漏管道",由于每个环节的不公平,符合干预条件的患者会从管道中涓涓流出。在这种情况下,实施旨在减少差异的行之有效的策略以及制定其他策略至关重要:本综述让临床医生全面了解在识别和管理高危或确诊为 HBOC 患者方面存在的差异,以及在其自身实践中减少差异的策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
2.70
自引率
3.20%
发文量
245
审稿时长
>12 weeks
期刊介绍: ​Each monthly issue of Obstetrical & Gynecological Survey presents summaries of the most timely and clinically relevant research being published worldwide. These concise, easy-to-read summaries provide expert insight into how to apply the latest research to patient care. The accompanying editorial commentary puts the studies into perspective and supplies authoritative guidance. The result is a valuable, time-saving resource for busy clinicians.
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