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改善基因公平性:利用服务欠缺地区的乳腺钼靶检查诊所作为筛查中心,确定符合基因护理服务条件的女性。

Improving genetics equity: identifying women eligible for genetic care services using mammography clinics in underserved areas as screening hubs.

作者信息

Kizub Darya, Bluebond Rachel, Green Sierra, Duckworth Jessica, Shanker Sreejesh, Vara Autumn, Arun Banu

机构信息

Department of Breast Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

出版信息

Oncologist. 2025 Jul 4;30(7). doi: 10.1093/oncolo/oyaf113.

Abstract

PURPOSE

Fewer than 20% of underserved individuals undergo guideline-concordant hereditary breast and ovarian cancer (HBOC) genetic testing (GT). Our study aimed to determine the proportion of women eligible for HBOC GT using a cancer genetics risk assessment (CGRA) tool at breast cancer (BC) screening clinics in underserved communities and to describe the program's impact.

METHODS

Participants were women who presented for BC screening at The Rose clinics, serving low-income underserved communities in southeast Texas, and completed the CGRA. High-risk individuals received bilingual educational materials and a saliva-based GT kit. Those with a pathogenic variant (PV) or a variant of uncertain significance (VUS) received telegenetic counseling and risk reduction resources.

RESULTS

A total of 501 women completed the CGRA, with 30.1% uninsured. 150 women were identified as eligible for GT, but only 14 (9.9%) completed GT (11 negative, 2 VUS, 1 PV in NF1). GT completion was significantly associated with being White, Native American/Alaskan Native, and Ashkenazi Jewish (P < .05). Hispanic, low-income, and uninsured individuals, or those with fewer relatives with cancer, were as likely to complete GT as others.

CONCLUSIONS

We successfully identified underserved women at high risk of HBOC using CGRA, but the GT completion rate was low. However, the completion rate did not differ by Hispanic ethnicity, income, or insurance status, suggesting that financial navigation by our study coordinator, support from Spanish-language staff at The Rose clinics, and the use of Spanish-language educational materials and translation may have helped overcome some barriers.

摘要

目的

在未得到充分医疗服务的人群中,接受符合指南的遗传性乳腺癌和卵巢癌(HBOC)基因检测(GT)的个体不到20%。我们的研究旨在确定在服务不足社区的乳腺癌(BC)筛查诊所中,使用癌症遗传风险评估(CGRA)工具符合HBOC GT条件的女性比例,并描述该项目的影响。

方法

参与者为在罗斯诊所进行BC筛查的女性,该诊所服务于得克萨斯州东南部低收入的服务不足社区,她们完成了CGRA。高危个体收到了双语教育材料和基于唾液的GT试剂盒。那些携带致病变异(PV)或意义未明变异(VUS)的个体接受了远程遗传咨询和降低风险资源。

结果

共有501名女性完成了CGRA,其中30.1%没有保险。150名女性被确定符合GT条件,但只有14名(9.9%)完成了GT(11例为阴性,2例为VUS,1例为NF1中的PV)。GT完成情况与白人、美洲原住民/阿拉斯加原住民和阿什肯纳兹犹太人显著相关(P<0.05)。西班牙裔、低收入和未参保个体,或癌症亲属较少的个体,完成GT的可能性与其他人相同。

结论

我们使用CGRA成功识别出有HBOC高风险的服务不足女性,但GT完成率较低。然而,完成率在西班牙裔种族、收入或保险状况方面没有差异,这表明我们的研究协调员进行的财务指导、罗斯诊所西班牙语工作人员的支持以及使用西班牙语教育材料和翻译可能有助于克服一些障碍。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f442/12231590/bf2bd4cf37a3/oyaf113_fig1.jpg

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