Weber Evan, Carmona-Gonzalez Carlos A, Boucher Melanie, Eisen Andrea, Laing Kara, Melvin Jennifer, Schrader Kasmintan A, Sehdev Sandeep, Wong Stephanie M, Gelmon Karen A
Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, QC H4A 3J1, Canada.
Department of Human Genetics, McGill University, Montréal, QC H3A 1Y2, Canada.
Curr Oncol. 2025 May 22;32(6):290. doi: 10.3390/curroncol32060290.
Pathogenic variants in breast cancer predisposition genes are associated with poor clinical outcomes but also offer an opportunity for more individualized therapeutic pathways. Given increasing knowledge, improvements in germline genetic testing efficiency, and the availability of novel systemic targeted treatment options, the importance of appropriately identifying patients for testing has never been greater. A pan-Canadian expert working group (EWG) consisting of 10 healthcare professionals (HCPs) was convened to review recent international guidelines for germline genetic testing in breast cancer and develop Canadian recommendations. The group identified four clinical questions to address which patients should undergo testing, what approaches should be used, how patients should be counselled, and what steps are needed for implementation. In response to these questions, the EWG agreed upon 12 recommendations that emphasized broader incorporation of germline genetic testing and more standardized, streamlined testing and counselling approaches. The group also offered multiple suggestions to support effective and equitable implementation across Canada. These recommendations provide guidance for HCPs and represent a call to action for the Canadian government and other organizations to support genetic testing pathways, drug access, and ultimately improved outcomes for patients with breast cancer and their families.
乳腺癌易感基因中的致病变异与不良临床结局相关,但也为更具个性化的治疗途径提供了契机。随着知识的不断增加、生殖系基因检测效率的提高以及新型全身靶向治疗方案的出现,合理确定检测患者的重要性前所未有的高。一个由10名医疗保健专业人员(HCPs)组成的泛加拿大专家工作组(EWG)被召集起来,以审查乳腺癌生殖系基因检测的最新国际指南并制定加拿大的建议。该小组确定了四个临床问题,即哪些患者应接受检测、应采用何种方法、应如何为患者提供咨询以及实施需要采取哪些步骤。针对这些问题,EWG商定了12项建议,强调更广泛地纳入生殖系基因检测以及更标准化、简化的检测和咨询方法。该小组还提出了多项建议,以支持在加拿大有效且公平地实施。这些建议为HCPs提供了指导,并呼吁加拿大政府和其他组织采取行动,以支持基因检测途径、药物获取,并最终改善乳腺癌患者及其家庭的结局。