社区卫生工作者模式支持遗传性癌症风险评估和基因检测。

A Community Health Worker Model to Support Hereditary Cancer Risk Assessment and Genetic Testing.

机构信息

Department of Obstetrics and Gynecology, Olive View-UCLA Medical Center, and the David Geffen School of Medicine at UCLA and the UCLA Clinical and Translational Science Institute, University of California, Los Angeles, Los Angeles, California; and Corewell Health West, Grand Rapids, Michigan.

出版信息

Obstet Gynecol. 2023 Sep 1;142(3):699-707. doi: 10.1097/AOG.0000000000005292.

DOI:10.1097/AOG.0000000000005292

PMID:37535963

Abstract

OBJECTIVE

To evaluate the effects of a community health worker-supported hereditary cancer risk-assessment and genetic testing program in a safety-net hospital serving more than 70% medically underserved patients.

METHODS

This community health worker pilot program began in January 2020 at women's health clinics by administering original National Comprehensive Cancer Network (NCCN)-based questionnaires. Patients meeting high-risk criteria were offered video-based genetic education and testing, notified of results using telehealth, and offered indicated counseling. We compared the rate of genetic counseling and testing in the first 18 months of the pilot program with that in the prior 18 months.

RESULTS

In the first 18 months of the pilot program, 940 patients were screened through the community health worker program: 196 were identified as high-risk, 103 patients were tested, and pathogenic variants were identified in 10 (9.7%), two of whom had a personal cancer history. In addition, 73 patients were tested per usual practice by a certified genetic counselor: pathogenic variants were identified in 16 (21.9%), 11 (68.8%) of whom had a personal cancer history. In the 18 months before the program, 68 patients underwent genetic testing with a certified genetic counselor, pathogenic variants were identified in 16 (23.5%), 13 (81.3%) of whom had a personal cancer history. The community health worker program led to a significant increase in testing among unaffected patients based on family history alone (odds ratio [OR] 7.0; 95% CI 3.7-13.2; P <.001), paralleled by a respective significant increase in the identification of pathogenic variants (OR 4.33; 95% CI 1.0-18.9; P =.051).

CONCLUSION

This pilot program demonstrates the feasibility of a community health worker-supported program, using self-administered questionnaires and telehealth-based genetic services in a primarily medically underserved population. This program improved the detection of unaffected high-risk patients based on family history, increasing the volume of tests performed for this indication. Programs of this type may improve family history-based hereditary cancer testing in medically underserved patients, further enabling cancer-prevention strategies.

摘要

目的

评估社区卫生工作者支持的遗传性癌症风险评估和基因检测计划在一家为 70%以上医疗服务不足的患者提供服务的医疗保障机构中的效果。

方法

这项社区卫生工作者试点计划于 2020 年 1 月在妇女健康诊所开始实施，通过管理原始的美国国家综合癌症网络（NCCN）为基础的问卷。符合高危标准的患者被提供基于视频的基因教育和测试，通过远程医疗通知结果，并提供相应的咨询。我们比较了试点计划前 18 个月和前 18 个月的基因咨询和检测率。

结果

在试点计划的前 18 个月中，通过社区卫生工作者计划共对 940 名患者进行了筛查：196 名被确定为高危患者，其中 103 名患者接受了检测，发现了 10 个（9.7%）致病性变体，其中 2 名患者有个人癌症病史。此外，还有 73 名患者按照常规程序由认证遗传咨询师进行了检测：发现了 16 个（21.9%）致病性变体，其中 11 名（68.8%）患者有个人癌症病史。在计划实施前的 18 个月里，有 68 名患者接受了认证遗传咨询师的基因检测，发现了 16 个（23.5%）致病性变体，其中 13 名（81.3%）患者有个人癌症病史。社区卫生工作者计划显著增加了仅基于家族史的未受影响患者的检测（比值比[OR]7.0；95%置信区间[CI]3.7-13.2；P<.001），同时相应地增加了致病性变体的识别（OR 4.33；95%CI 1.0-18.9；P=.051）。