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当日服务:一种改善卵巢癌患者种系基因检测的基因检测站模式。

Same day service: A genetic testing station model to improve germline genetic testing in patients with ovarian cancer.

作者信息

Marjon Nicole, Guerra Rosa, Freeman Alexandra, Mak Julie, Cheung Stephanie, Gordon Kelly, Blanco Amie, Ueda Stefanie, Chen Lee-May

机构信息

Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Gynecoloigc Oncology, University of California San Francisco, San Francisco, CA 94143, USA.

Department of Obstetrics, Gynecology, and Reproductive Sciences, Division of Gynecoloigc Oncology, University of California San Francisco, San Francisco, CA 94143, USA.

出版信息

Gynecol Oncol. 2023 Oct;177:53-59. doi: 10.1016/j.ygyno.2023.07.019. Epub 2023 Aug 26.

Abstract

OBJECTIVE

Genetic testing for ovarian cancer (OC) patients is essential to consideration of PARP inhibitor therapy. To improve access, we piloted a Genetic Testing Station (GTS) allowing patients to have a same-day genetic testing visit facilitated by Genetic Counselor Assistants (GCAs) under the supervision of Genetic Counselors (GCs).

METHODS

The GTS was implemented December 2018 and operated through February 2020. Gynecologic Oncologists offered ovarian cancer patients a same-day GTS visit with a GCA. The patient received education via videos designed by GCs and then provided consent, a brief family history, and a sample for a standardized 133-gene panel. Results were provided by a GC. Patients were retrospectively identified by querying the medical record for OC patients seen 12 months prior to and 18 months after GTS implementation.

RESULTS

A total of 482 patients pre-GTS were compared to 625 patients post-GTS. Genetic testing increased from 68.5% to 75.4% (p = 0.012) after implementation, primarily in patients with epithelial histologies (80% vs 89% in pre-GTS vs post-GTS, p = 0.005). Time from referral for genetic testing to obtaining results was evaluated in the post-GTS cohort, comparing patients who had traditional counseling to those who utilized the GTS. Time to obtaining results was 21 days in the GTS group (95% CI [10, 34]) compared to 56 days (95% CI [41,76]) in the traditional genetic counseling group.

CONCLUSIONS

The GTS reduces barriers to care and facilitates discussion of precision treatment within a timely fashion while optimizing GC clinic time. Access improvement remains integral to improving uptake of genetic testing.

摘要

目的

对卵巢癌(OC)患者进行基因检测对于考虑使用聚(ADP-核糖)聚合酶(PARP)抑制剂治疗至关重要。为了改善基因检测的可及性,我们试点设立了一个基因检测站(GTS),使患者能够在基因咨询师(GC)的监督下,由基因咨询助理(GCA)协助进行当日基因检测就诊。

方法

GTS于2018年12月开始实施,并运营至2020年2月。妇科肿瘤学家为卵巢癌患者提供与GCA进行当日GTS就诊的机会。患者通过GC设计的视频接受教育,然后签署知情同意书,提供简要家族史,并提供用于标准化133基因检测 panel 的样本。结果由GC提供。通过查询GTS实施前12个月和实施后18个月就诊的OC患者的病历,对患者进行回顾性识别。

结果

共比较了482例GTS实施前的患者和625例GTS实施后的患者。实施后基因检测率从68.5%提高到75.4%(p = 0.012),主要是上皮组织学类型的患者(GTS实施前为80%,实施后为89%,p = 0.005)。在GTS实施后的队列中,对接受传统咨询的患者和使用GTS的患者进行比较,评估从基因检测转诊到获得结果的时间。GTS组获得结果的时间为21天(95%置信区间[10, 34]),而传统基因咨询组为56天(95%置信区间[41, 76])。

结论

GTS减少了医疗护理障碍,有助于及时讨论精准治疗,同时优化了GC门诊时间。改善可及性对于提高基因检测的接受度仍然至关重要。

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