治疗前列腺癌症的专科医生的基因检测实践加拿大的一项横断面调查。

Steven M Yip, Christopher Morash, Michael P Kolinsky, Anil Kapoor, Michael Ong, Shamini Selvarajah, Jennifer Nuk, Katie Compton, Frederic Pouliot, Luke T Lavallée, Daniel J Khalaf, Robert J Hamilton, Geoffrey T Gotto, Ricardo A Rendon, Elie Antebi, Sebastien J Hotte, Shawn Malone, Kim N Chi, Darrel E Drachenberg, Fred Saad, Jonathan Chan, Cristiano Ferrario, Jenny Ko, Bobby Shayegan, Sunil Parimi, Alan I So, Andrew Feifer, Kenneth Jansz, Daygen Finch, Joseph L Chin, Brendan Osborne, Kai Fai Ho, Corine Demanga Galamo, Anousheh Zardan, Tamim Niazi
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引用次数: 0

摘要

简介:在癌症(PCa)患者中,识别与同源重组修复(HRR)相关的基因改变对预后、治疗优化和家族风险减轻具有重要意义。本研究的目的是评估加拿大前列腺癌的基因组检测情况,并推荐一种为HRR相关基因提供种系和肿瘤检测的方法。方法:2022年1月至6月,加拿大泌尿生殖研究联合会(GURC)对22个研究点的一个以学术为主的多学科研究小组进行了横断面调查。结果:来自所有22个研究地点的38名研究人员对调查做出了回应。34%的人开始进行种系基因检测,45%的人需要转诊给基因专家。大多数研究人员(82%)报告说,需要进行种系和肿瘤检测,92%的研究人员目前提供种系检测,72%的研究人员为晚期前列腺癌患者提供组织检测。不提供检测的最常见原因是获取差距(50%)、检测对象和检测基因的不确定性(33%)和解释结果(17%)。大多数报告称,晚期前列腺癌患者(74-80%)应该接受检测,很少有研究人员对局部疾病患者进行检测,除非有前列腺癌家族史(45-55%);然而,在跨实践和专业访问测试方面存在挑战。提出了一种算法,以减少提供者在为前列腺癌患者进行基因检测时的不确定性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic testing practices among specialist physicians who treat prostate cancer A Canadian, cross-sectional survey.

Introduction: In patients with prostate cancer (PCa), the identification of an alteration in genes associated with homologous recombination repair (HRR) has implications for prognostication, optimization of therapy, and familial risk mitigation. The aim of this study was to assess the genomic testing landscape of PCa in Canada and to recommend an approach to offering germline and tumor testing for HRR-associated genes.

Methods: The Canadian Genitourinary Research Consortium (GURC) administered a cross-sectional survey to a largely academic, multidisciplinary group of investigators across 22 GURC sites between January and June 2022.

Results: Thirty-eight investigators from all 22 sites responded to the survey. Germline genetic testing was initiated by 34%, while 45% required a referral to a genetic specialist. Most investigators (82%) reported that both germline and tumor testing were needed, with 92% currently offering germline and 72% offering tissue testing to patients with advanced PCa. The most cited reasons for not offering testing were an access gap (50%), uncertainties around who to test and which genes to test, (33%) and interpreting results (17%). A majority reported that patients with advanced PCa (74-80%) should be tested, with few investigators testing patients with localized disease except when there is a family history of PCa (45-55%).

Conclusions: Canadian physicians with academic subspecialist backgrounds in genitourinary malignancies recognize the benefits of both germline and somatic testing in PCa; however, there are challenges in accessing testing across practices and specialties. An algorithm to reduce uncertainty for providers when ordering genetic testing for patients with PCa is proposed.

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