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. 2025 May 22;32(6):290.
doi: 10.3390/curroncol32060290.

Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action

Evan Weber  1   2 , Carlos A Carmona-Gonzalez  3   4 , Melanie Boucher  5 , Andrea Eisen  4   6 , Kara Laing  7   8 , Jennifer Melvin  9 , Kasmintan A Schrader  10   11 , Sandeep Sehdev  12   13 , Stephanie M Wong  14   15   16 , Karen A Gelmon  17   18
Affiliations

Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action

Evan Weber et al. Curr Oncol. .

Abstract

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.

Keywords: BRCA1; BRCA2; Canada; breast cancer; germline genetic testing; mainstreaming; recommendations.

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Conflict of interest statement

K.A. Gelmon reports participation in advisory boards for and/or has received honoraria from AstraZeneca, Celcuity, City of Hope, Eli Lilly, Gilead, Merck, Novartis, and Pfizer. K. Laing has received honoraria from Eli Lilly, Novartis, Pfizer, and Taro Pharmaceuticals. J. Melvin has received honoraria from AstraZeneca, Eli Lilly, Gilead, Novartis, Medison, Merck, and Pfizer. K. Schrader reports providing consulting services (ad hoc) and receiving honoraria from AstraZeneca and Precision RxDx. She has also received research funding from AstraZeneca and Merck, is the co-inventor on a patent application for parent-of-origin determination methodology held by PHSA, holds a medical advisor relationship and individual stocks and stock options with Genetics Adviser, and is the co-founder of Evident Genomics. S. Sehdev reports participating in advisory boards for and/or receiving speaking fees from AstraZeneca, Daiichi Sankyo, Eli Lilly, Gilead, Merck, Novartis, Pfizer, Roche, and SeaGen. He further declares receiving travel support from Daiichi Sankyo and Gilead. E. Weber has received honoraria from AstraZeneca and Merck. S.M. Wong declares participation in an advisory board for AstraZeneca and receiving honoraria for lectures from AstraZeneca, Merck, and Novartis. M. Boucher, C.A. Carmona-Gonzalez, and A. Eisen certify that they have no conflicts of interest to declare related to this work.

Figures

Figure 1
Figure 1
Algorithm for germline genetic testing of patients with breast cancer in Canada. a If a patient is negative for a PV/LPV but has a significant family history or a VUS, referral to a specialized genetics program may be appropriate, as it may lead to expanded genetic testing, additional investigation, or tailored cancer screening and risk-reduction approaches; see Recommendations 3.3 and 3.4. If a patient requests additional information or could benefit from a more in-depth discussion of their VUS, referral to a genetic counsellor is likely appropriate. All patients with a VUS should be apprised of their personal follow-up responsibilities given the potential for re-classification. DCIS, ductal carcinoma in situ; LPV, likely pathogenic variant; PV, pathogenic variant; TNBC, triple-negative breast cancer; VUS, variant of uncertain significance.
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References

    1. Menko F.H., Monkhorst K., Hogervorst F.B.L., Rosenberg E.H., Adank M.A., Ruijs M.W.G., Bleiker E.M.A., Sonke G.S., Russell N.S., Oldenburg H.S.A., et al. Challenges in breast cancer genetic testing. A call for novel forms of multidisciplinary care and long-term evaluation. Crit. Rev. Oncol. Hematol. 2022;176:103642. doi: 10.1016/j.critrevonc.2022.103642. - DOI - PubMed
    1. Dubsky P., Jackisch C., Im S.A., Hunt K.K., Li C.F., Unger S., Paluch-Shimon S. BRCA genetic testing and counseling in breast cancer: How do we meet our patients’ needs? NPJ Breast Cancer. 2024;10:77. doi: 10.1038/s41523-024-00686-8. - DOI - PMC - PubMed
    1. Litton J.K., Rugo H.S., Ettl J., Hurvitz S.A., Goncalves A., Lee K.H., Fehrenbacher L., Yerushalmi R., Mina L.A., Martin M., et al. Talazoparib in patients with advanced breast cancer and a germline BRCA mutation. N. Engl. J. Med. 2018;379:753–763. doi: 10.1056/NEJMoa1802905. - DOI - PMC - PubMed
    1. Robson M., Im S.A., Senkus E., Xu B., Domchek S.M., Masuda N., Delaloge S., Li W., Tung N., Armstrong A., et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N. Engl. J. Med. 2017;377:523–533. doi: 10.1056/NEJMoa1706450. - DOI - PubMed
    1. Geyer C.E., Jr., Garber J.E., Gelber R.D., Yothers G., Taboada M., Ross L., Rastogi P., Cui K., Arahmani A., Aktan G., et al. Overall survival in the OlympiA phase III trial of adjuvant olaparib in patients with germline pathogenic variants in BRCA1/2 and high-risk, early breast cancer. Ann. Oncol. 2022;33:1250–1268. doi: 10.1016/j.annonc.2022.09.159. - DOI - PMC - PubMed

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