Familial Cancer Clinic, Princess Margaret Cancer Centre - University Health Network, Toronto, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada.
Familial Cancer Clinic, Princess Margaret Cancer Centre - University Health Network, Toronto, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada.
Gynecol Oncol. 2020 Aug;158(2):440-445. doi: 10.1016/j.ygyno.2020.05.014. Epub 2020 Jun 3.
OBJECTIVE: Despite guidelines recommending that all women with invasive serous ovarian cancer (SOC) are offered genetic testing, published referral and testing rates have been poor. Many centers have implemented novel genetic counseling service delivery models to increase testing rates. In light of increased awareness and implementation of small process changes at our center, this study aims to establish baseline referral rates and testing outcomes prior to diverging from the traditional model of care. METHODS: A list of women diagnosed with SOC at Princess Margaret Cancer Center (PM) between 2010 and 2016 was obtained from the PM Cancer Registry and cross-referenced against the genetics database to determine referral rates and outcomes of genetic testing. RESULTS: Of 724 women with SOC, 68% were referred for genetic counseling, with an overall testing rate of 61%. Higher referral rates were seen among women with younger ages at diagnosis and high-grade tumors. Of women tested, 22% were found to have a pathogenic variant in BRCA1/2 and 9% in another cancer gene. Notably, 24% of women with a pathogenic variant reported no family history of breast or ovarian cancer. CONCLUSION: Genetic counseling referral and testing rates for women with SOC are higher than previously reported, yet barriers to referral remain. To maximize genetic testing rates and address increasing patient volumes, clinics may be faced with integrating novel genetic counseling delivery models. Findings from this study may serve as a more accurate baseline to which large scale service delivery changes can be compared.
目的:尽管指南建议所有浸润性浆液性卵巢癌(SOC)患者都应接受基因检测,但发表的转诊和检测率一直很低。许多中心已经实施了新的遗传咨询服务提供模式,以提高检测率。鉴于我们中心的意识提高和小的流程改变的实施,本研究旨在确定传统护理模式偏离之前的转诊率和检测结果基线。
方法:从 PM 癌症登记处获得了 2010 年至 2016 年在 Princess Margaret Cancer Center(PM)诊断为 SOC 的女性名单,并与遗传学数据库交叉引用,以确定遗传咨询的转诊率和基因检测的结果。
结果:在 724 名 SOC 女性中,68%被转诊接受遗传咨询,总体检测率为 61%。诊断年龄较小和肿瘤分级较高的女性转诊率较高。在接受测试的女性中,22%发现 BRCA1/2 中有致病性变异,9%在另一个癌症基因中有致病性变异。值得注意的是,24%有致病性变异的女性报告没有乳腺癌或卵巢癌家族史。
结论:SOC 女性的遗传咨询转诊和检测率高于以往报道,但转诊仍存在障碍。为了最大限度地提高基因检测率并解决不断增加的患者数量,诊所可能需要整合新的遗传咨询服务提供模式。本研究的结果可以作为更准确的基线,与大规模服务提供的变化进行比较。
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