上皮性卵巢癌、输卵管癌和腹膜癌患者的基因检测频率:提高依从性的策略

Jude Nawlo, Kevin Espino, Deanna Gerber, Meredith Akerman, Kent Chan, Edward Jimenez, Eva Chalas
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引用次数: 0

摘要

目的:2014年,妇科肿瘤学会(SGO)推荐对所有上皮性卵巢癌(EOC)、输卵管癌(FTC)或腹膜癌(PC)患者进行通用种系检测。尽管有这样的立场声明,受影响患者的基因检测(GT)摄取仍然远远低于普遍检测的目标。本研究的目的是评估内部政策变化对单一机构GT利率的影响。患者和方法:本研究是一项机构审查委员会(IRB)批准的(#22-00711)回顾性队列研究,于2021年6月至2022年4月在一家机构进行。该研究评估了诊断为EOC、FTC和PC的患者的GT摄取情况,以评估以下整合护理点(POC) GT的内部政策变化。结果:共确定了272例患者,其中47例患者因非上皮性肿瘤而被排除。94.2%(212/225)符合条件的患者记录了遗传咨询,90.2%(203/225)完成了遗传咨询。在22名(9.8%)未接受基因检测的人中,有27%(6/22)接受了检测,但被拒绝了。22%(45/205)的患者检测到有害突变。其中,82.2%(37/45)为BRCA, 6.8%(3/45)为lynch相关突变(MSH2、MSH6、MLH1和PMS2), 4.4%(2/45)为RAD51, 4.4%(2/45)为BRIP1, 2.2%(1/45)为在不同机构诊断的未知有害突变。结论:基于SGO立场声明依从性分析制定的内部政策以及随后实施的POC测试导致GT显著增加,表明医疗质量得到改善。该人群的GT发生率明显高于文献报道。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Frequency of Genetic Testing Among Patients With Epithelial Ovarian, Fallopian Tube, and Peritoneal Cancers: A Strategy to Improve Compliance

Frequency of Genetic Testing Among Patients With Epithelial Ovarian, Fallopian Tube, and Peritoneal Cancers: A Strategy to Improve Compliance

Purpose: In 2014, the Society of Gynecologic Oncology (SGO) recommended universal germline testing for all patients with epithelial ovarian cancer (EOC), fallopian tube cancer (FTC), or peritoneal cancer (PC). Despite this position statement, genetic testing (GT) uptake among affected patients remains well below the universal testing goal. The aim of this study is to evaluate the impact of an internal policy change on the GT rate at a single institution.

Patients and Methods: This investigation was an Institutional Review Board (IRB)–approved (#22-00711) retrospective cohort study which took place at a single institution from June 2021 to April 2022. The study assessed GT uptake among patients diagnosed with EOC, FTC, and PC to evaluate the following internal policy change integrating point-of-care (POC) GT.

Results: A total of 272 patients were identified with 47 patients excluded due to nonepithelial tumors. Genetic counseling was documented in 94.2% of eligible patients (212/225) and completed in 90.2% (203/225). Of the 22 (9.8%) who were not genetically tested, 27% (6/22) were offered and declined. Deleterious mutations were identified in 22% (45/205) of patients tested. Of these, 82.2% (37/45) were in BRCA, 6.8% (3/45) in Lynch-associated mutations (MSH2, MSH6, MLH1, and PMS2), 4.4% (2/45) in RAD51, 4.4% (2/45) in BRIP1, and 2.2% (1/45) in an unknown deleterious mutation reportedly diagnosed at a different facility.

Conclusion: Internal policy developed based on analysis of compliance with the SGO position statement and subsequent implementation of POC testing led to a significant increase in GT, indicating improvement in quality medical care. GT rates in this population are markedly higher than reported in the literature.

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Comparative and Functional Genomics
Comparative and Functional Genomics 生物-生化与分子生物学
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