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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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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