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优化基因检测与卵巢癌和子宫内膜癌肿瘤检测并行的主流化:我们如何最大化我们的影响?

Optimizing Mainstreaming of Genetic Testing in Parallel With Ovarian and Endometrial Cancer Tumor Testing: How Do We Maximize Our Impact?

作者信息

Liu Ying L, Sia Tiffany Y, Varice Nancy, Wu Michelle, Byrne Maureen, Khurram Aliya, Kemel Yelena, Sheehan Margaret, Galle Jesse, Sabbatini Paul, Brown Carol, Roche Kara Long, Chi Dennis, Solit David B, Mueller Jennifer, Stadler Zsofia K, Hamilton Jada G, Aghajanian Carol, Abu-Rustum Nadeem R

机构信息

Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

Department of Medicine, Weill Cornell Medical School, New York, NY.

出版信息

JCO Precis Oncol. 2024 Dec;8:e2400525. doi: 10.1200/PO-24-00525. Epub 2024 Dec 23.

Abstract

PURPOSE

Although germline genetic testing (GT) is recommended for all patients with ovarian cancer (OC) and some patients with endometrial cancer (EC), uptake remains low with multiple barriers. Our center performs GT in parallel with somatic testing via a targeted sequencing assay (MSK-IMPACT) and initiates testing in oncology clinics (mainstreaming). We sought to optimize our GT processes for OC/EC.

METHODS

We performed a quality improvement study to evaluate our GT processes within gynecologic surgery/medical oncology clinics. All eligible patients with newly diagnosed OC/EC were identified for GT and tracked in a REDCap database. Clinical data and GT rates were collected by the study team, who reviewed data for qualitative themes.

RESULTS

From February 2023 to April 2023, we identified 116 patients with newly diagnosed OC (n = 57) and EC (n = 59). Patients were mostly White (62%); English was the preferred language for 90%. GT was performed in 52 (91%) patients with OC (seven external, 45 MSK-IMPACT) and in 44 (75%) patients with EC (three external, 41 MSK-IMPACT). GT results were available within 3 months for 100% and 95% of patients with OC and EC, respectively. Reasons for not undergoing GT included being missed by the clinical team where there was no record that GT was recommended, feeling overwhelmed, financial and privacy concerns, and language barriers. In qualitative review, we found that resources were concentrated in the initial visit with little follow-up to encourage GT at subsequent points of care.

CONCLUSION

A mainstreaming approach that couples somatic and germline GT resulted in high testing rates in OC/EC; however, barriers were identified. Processes that encourage GT at multiple care points and allow self-directed, multilingual digital consenting should be piloted.

摘要

目的

尽管推荐对所有卵巢癌(OC)患者和部分子宫内膜癌(EC)患者进行种系基因检测(GT),但由于存在多种障碍,检测率仍然较低。我们中心通过靶向测序检测法(MSK-IMPACT)与体细胞检测并行开展GT,并在肿瘤诊所启动检测(主流化)。我们试图优化OC/EC的GT流程。

方法

我们开展了一项质量改进研究,以评估妇科手术/肿瘤内科诊所内的GT流程。确定所有符合条件的新诊断OC/EC患者进行GT,并在REDCap数据库中进行跟踪。研究团队收集临床数据和GT率,并审查数据以寻找定性主题。

结果

2023年2月至2023年4月,我们确定了116例新诊断的OC患者(n = 57)和EC患者(n = 59)。患者大多为白人(62%);90%的患者首选语言为英语。52例(91%)OC患者(7例外部检测,45例MSK-IMPACT检测)和44例(75%)EC患者(3例外部检测,41例MSK-IMPACT检测)进行了GT。OC和EC患者分别有100%和95%在3个月内获得了GT结果。未进行GT的原因包括临床团队遗漏(无记录显示推荐了GT)、感到不知所措、财务和隐私问题以及语言障碍。在定性审查中,我们发现资源集中在初次就诊,后续很少有跟进以鼓励在后续护理点进行GT。

结论

将体细胞和种系GT相结合的主流化方法在OC/EC中产生了较高的检测率;然而,也发现了一些障碍。应试点在多个护理点鼓励GT并允许自主、多语言数字同意的流程。

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