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简化加利福尼亚北部医疗体系中卵巢癌女性的基因检测。

Streamlining genetic testing for women with ovarian cancer in a Northern California health care system.

机构信息

Kaiser Permanente Northern California, Division of Research, Oakland, CA, United States of America; Kaiser Permanente Northern California Gynecologic Cancer Program San Francisco, United States of America.

Kaiser Permanente Northern California, Division of Research, Oakland, CA, United States of America.

出版信息

Gynecol Oncol. 2020 Oct;159(1):221-228. doi: 10.1016/j.ygyno.2020.07.027. Epub 2020 Aug 7.

DOI:10.1016/j.ygyno.2020.07.027
PMID:32778409
Abstract

OBJECTIVE

Referral to Genetics for pre-testing counseling may be inefficient for women with ovarian cancer. This study assesses feasibility of gynecologic oncologists directly offering genetic testing.

METHODS

A prospective pilot study was conducted at two gynecologic oncology hubs in an integrated healthcare system from May 1 to November 6, 2019. Gynecologic oncologists offered multigene panel testing to women with newly diagnosed ovarian cancer, followed by selective genetic counseling. Outcomes were compared between study participants and women from other hubs in the health system.

RESULTS

Of ovarian cancer patients at study sites, 40 participated and all underwent genetic testing. Of 101 patients diagnosed at other sites, 85% were referred to genetics (p = .0061 compared to pilot participants) and 67% completed testing (p < .0001). The time from diagnosis to blood draw and notification of result was 18.5 and 34 days for the pilot group compared to 25.5 and 53 days at other sites. Panel testing detected 9 (22.5%) and 7 (10.3%, p = .08) pathogenic mutations in each group, respectively. Patients and providers were highly satisfied with the streamlined process.

CONCLUSION

Genetic testing performed at the gynecologic oncology point of care for patients with ovarian cancer is feasible, increases uptake of testing, and improves time to results.

摘要

目的

对卵巢癌患者进行检测前咨询转诊至遗传学可能效率低下。本研究评估了妇科肿瘤医生直接提供基因检测的可行性。

方法

本前瞻性试点研究于 2019 年 5 月 1 日至 11 月 6 日在一个综合医疗系统中的两个妇科肿瘤学中心进行。妇科肿瘤医生为新诊断为卵巢癌的女性提供多基因面板检测,随后进行选择性遗传咨询。研究参与者与该医疗系统中其他中心的女性的结局进行了比较。

结果

在研究地点的卵巢癌患者中,有 40 名参与者全部接受了基因检测。在其他地点诊断的 101 名患者中,85%被转诊至遗传学(与试点参与者相比,p=0.0061),67%完成了检测(p<0.0001)。从诊断到采血和通知检测结果的时间,试点组为 18.5 天和 34 天,而其他组为 25.5 天和 53 天。面板检测分别在两组中检测到 9 个(22.5%)和 7 个(10.3%,p=0.08)致病性突变。患者和提供者对简化流程非常满意。

结论

在妇科肿瘤护理点为卵巢癌患者进行基因检测是可行的,可增加检测的接受率,并缩短结果报告时间。

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