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精准医学中的差异——研究前列腺癌男性中胚系遗传咨询和检测模式。

Disparities in precision medicine-Examining germline genetic counseling and testing patterns among men with prostate cancer.

机构信息

Department of Medicine, Division of Hematology/Oncology, University of California, San Francisco, CA.

Department of Urology, University of California, San Francisco, CA; Center for Digital Health Innovation, University of California, San Francisco, CA.

出版信息

Urol Oncol. 2021 Apr;39(4):233.e9-233.e14. doi: 10.1016/j.urolonc.2020.10.014. Epub 2020 Nov 4.

DOI:10.1016/j.urolonc.2020.10.014
PMID:33158741
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9208066/
Abstract

INTRODUCTION

This study sought to examine whether germline genetic counseling and testing were employed differentially among men with prostate cancer by race and/or ethnicity and other social factors.

METHODS

In this retrospective analysis, all patients with prostate cancer listed as a visit diagnosis during the study period (April 2011 to August 2020) were identified from electronic health records. Patient characteristics were collected along with genetic counselor visits and germline genetic testing results in electronic health records. Multivariable analyses were performed with the primary outcome defined as the receipt of a genetic counseling visit and receipt of genetic testing.

RESULTS

A total of 14,610 patients with a prostate cancer diagnosis code were identified. The majority of patients were White (72%), aged >=65 years (62.7%), English-speaking (95%), married (71.4%), and publicly insured (58.7%). A total of 667 patients completed an appointment with a genetic counselor. A total of 439 patients received germline genetic test result, of whom 403 (91.8%) had also completed an appointment with a genetic counselor. Patients that were 65 years or older (adjusted odds ratio 0.53, 95%CI 0.44-0.65) and non-English proficient (adjusted odds ratio 0.71, 95%CI 0.42-1.21) were less likely to receive genetic counseling. Receiving genetic counseling was the strongest independent predictor of receipt of genetic testing.

CONCLUSIONS

The results of the current study highlight that the role of social factors in contributing to disparities in genetic counseling and testing among men with prostate cancer. These results underscore the importance of developing novel strategies to tackle contributors of observed disparities including language, age, and insurance status.

摘要

简介

本研究旨在探讨前列腺癌患者的种系基因咨询和检测是否因种族和/或民族以及其他社会因素而存在差异。

方法

在这项回顾性分析中,从电子健康记录中确定了所有在研究期间(2011 年 4 月至 2020 年 8 月)列为就诊诊断的前列腺癌患者。从电子健康记录中收集了患者特征、遗传咨询师就诊情况和种系基因检测结果。主要结局定义为接受遗传咨询就诊和接受基因检测,采用多变量分析。

结果

共确定了 14610 名患有前列腺癌诊断代码的患者。大多数患者为白人(72%)、年龄>=65 岁(62.7%)、说英语(95%)、已婚(71.4%)和公保(58.7%)。共有 667 名患者预约了遗传咨询师。共有 439 名患者接受了种系基因检测结果,其中 403 名(91.8%)也预约了遗传咨询师。65 岁或以上的患者(调整后的优势比 0.53,95%CI 0.44-0.65)和非英语熟练的患者(调整后的优势比 0.71,95%CI 0.42-1.21)接受遗传咨询的可能性较小。接受遗传咨询是接受基因检测的最强独立预测因素。

结论

本研究结果强调了社会因素在导致前列腺癌男性中遗传咨询和检测差异中的作用。这些结果强调了制定新策略解决所观察到的差异的贡献者的重要性,包括语言、年龄和保险状况。

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