Yip Steven M, Morash Christopher, Kolinsky Michael P, Kapoor Anil, Ong Michael, Selvarajah Shamini, Nuk Jennifer, Compton Katie, Pouliot Frederic, Lavallée Luke T, Khalaf Daniel J, Hamilton Robert J, Gotto Geoffrey T, Rendon Ricardo A, Antebi Elie, Hotte Sebastien J, Malone Shawn, Chi Kim N, Drachenberg Darrel E, Saad Fred, Chan Jonathan, Ferrario Cristiano, Ko Jenny, Shayegan Bobby, Parimi Sunil, So Alan I, Feifer Andrew, Jansz Kenneth, Finch Daygen, Chin Joseph L, Osborne Brendan, Ho Kai Fai, Galamo Corine Demanga, Zardan Anousheh, Niazi Tamim
Tom Baker Cancer Centre, University of Calgary, Calgary, AB, Canada.
The Ottawa Hospital, University of Ottawa, Ottawa, ON, Canada.
Can Urol Assoc J. 2023 Oct;17(10):326-336. doi: 10.5489/cuaj.8403.
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.
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.
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%).
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.
在前列腺癌(PCa)患者中,识别与同源重组修复(HRR)相关基因的改变对预后评估、治疗优化及家族风险降低具有重要意义。本研究旨在评估加拿大PCa的基因组检测情况,并推荐一种针对HRR相关基因进行种系和肿瘤检测的方法。
加拿大泌尿生殖研究联盟(GURC)于2022年1月至6月对22个GURC站点的多学科研究人员进行了一项横断面调查,这些研究人员大多来自学术机构。
来自所有22个站点的38名研究人员回复了调查。34%的人启动了种系基因检测,而45%的人需要转诊至基因专家处。大多数研究人员(82%)报告称种系和肿瘤检测都有必要,92%的人目前为晚期PCa患者提供种系检测,72%的人提供组织检测。不提供检测的最常见原因是获取检测途径存在差距(50%)、在检测对象和检测基因方面存在不确定性(33%)以及结果解读(17%)。大多数人报告称晚期PCa患者(74 - 80%)应接受检测,除有PCa家族史外,很少有研究人员对局限性疾病患者进行检测(45 - 55%)。
具有泌尿生殖系统恶性肿瘤学术亚专业背景的加拿大医生认识到种系和体细胞检测在PCa中的益处;然而,在不同医疗机构和专业之间获取检测存在挑战。本文提出了一种算法,以减少为PCa患者订购基因检测时医生的不确定性。