Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action
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 tar...
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| Format: | Article |
| Language: | English |
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MDPI AG
2025-05-01
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| Series: | Current Oncology |
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| Online Access: | https://www.mdpi.com/1718-7729/32/6/290 |
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| author | Evan Weber Carlos A. Carmona-Gonzalez Melanie Boucher Andrea Eisen Kara Laing Jennifer Melvin Kasmintan A. Schrader Sandeep Sehdev Stephanie M. Wong Karen A. Gelmon |
| author_facet | Evan Weber Carlos A. Carmona-Gonzalez Melanie Boucher Andrea Eisen Kara Laing Jennifer Melvin Kasmintan A. Schrader Sandeep Sehdev Stephanie M. Wong Karen A. Gelmon |
| author_sort | Evan Weber |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9ecdbd7f51a0480c805ff08ec61c41cd |
| institution | Matheson Library |
| issn | 1198-0052 1718-7729 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Current Oncology |
| spelling | doaj-art-9ecdbd7f51a0480c805ff08ec61c41cd2025-06-25T13:41:23ZengMDPI AGCurrent Oncology1198-00521718-77292025-05-0132629010.3390/curroncol32060290Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to ActionEvan Weber0Carlos A. Carmona-Gonzalez1Melanie Boucher2Andrea Eisen3Kara Laing4Jennifer Melvin5Kasmintan A. Schrader6Sandeep Sehdev7Stephanie M. Wong8Karen A. Gelmon9Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montréal, QC H4A 3J1, CanadaDivision of Medical Oncology, Odette Cancer Centre, Sunnybrook Health Sciences Centre, Toronto, ON M4N 3M5, CanadaDepartment of Oncology, Division of Medical Oncology, PEI Cancer Treatment Centre, Charlottetown, PE C1A 8T5, CanadaDepartment of Medicine, Division of Medical Oncology, University of Toronto, Toronto, ON M4N 3M5, CanadaCancer Care Program, NL Health Services, St. John’s, NL A1B 3V6, CanadaDepartment of Medicine, Division of Medical Oncology, Nova Scotia Health, Halifax, NS B3H 2Y9, CanadaHereditary Cancer Program, BC Cancer, Vancouver, BC V5Z 4E6, CanadaDepartment of Medicine, Division of Medical Oncology, The Ottawa Hospital Cancer Centre, Ottawa, ON K1H 1C4, CanadaJewish General Hospital, Stroll Cancer Prevention Centre, McGill University, Montréal, QC H3T 1E2, CanadaDepartment of Medical Oncology, BC Cancer, Vancouver, BC V5Z 4E6, CanadaPathogenic 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.https://www.mdpi.com/1718-7729/32/6/290breast cancergermline genetic testingCanadarecommendationsmainstreaming<i>BRCA1</i> |
| spellingShingle | Evan Weber Carlos A. Carmona-Gonzalez Melanie Boucher Andrea Eisen Kara Laing Jennifer Melvin Kasmintan A. Schrader Sandeep Sehdev Stephanie M. Wong Karen A. Gelmon Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action Current Oncology breast cancer germline genetic testing Canada recommendations mainstreaming <i>BRCA1</i> |
| title | Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action |
| title_full | Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action |
| title_fullStr | Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action |
| title_full_unstemmed | Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action |
| title_short | Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action |
| title_sort | canadian recommendations for germline genetic testing of patients with breast cancer a call to action |
| topic | breast cancer germline genetic testing Canada recommendations mainstreaming <i>BRCA1</i> |
| url | https://www.mdpi.com/1718-7729/32/6/290 |
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