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Original research
Development of a comprehensive approach to adult hereditary cancer testing in Ontario
  1. Kathleen Anne Bell1,
  2. Raymond Kim2,3,
  3. Melyssa Aronson4,
  4. Brittany Gillies5,
  5. Arif Ali Awan6,
  6. Kathy Chun7,8,
  7. Jennifer Hart9,
  8. Rachel Healey9,
  9. Linda Kim10,
  10. Goran Klaric9,
  11. Karen Panabaker11,
  12. Peter J B Sabatini12,
  13. Bekim Sadikovic13,14,
  14. Shamini Selvarajah15,
  15. Amanda C Smith16,
  16. Tracy L Stockley8,17,
  17. Andrea K Vaags18,
  18. Andrea Eisen19,
  19. Aaron Pollett9,20,
  20. Harriet Feilotter21
  1. 1 Provincial Genetics Program, Ontario Health, Toronto, Ontario, Canada
  2. 2 Division of Medical Oncology and Hematology, University Health Network, Toronto, Ontario, Canada
  3. 3 Department of Medicine, University of Toronto, Toronto, Ontario, Canada
  4. 4 Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada
  5. 5 Familial Cancer Clinic, Princess Margaret Hospital Cancer Centre, Toronto, Ontario, Canada
  6. 6 Division of Medical Oncology, Ottawa Hospital Cancer Centre, Ottawa, Ontario, Canada
  7. 7 The Hospital for Sick Children, Toronto, Ontario, Canada
  8. 8 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
  9. 9 Pathology and Laboratory Medicine Program, Ontario Health, Toronto, Ontario, Canada
  10. 10 Department of Laboratory Medicine and Genetics, Credit Valley Hospital Site, Mississauga, Ontario, Canada
  11. 11 Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada
  12. 12 Genetics, University Health Network, Toronto, Ontario, Canada
  13. 13 Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada
  14. 14 Verspeeten Clinical Genome Centre, Western University, London, Ontario, Canada
  15. 15 Department of Clinical Laboratory Genetics, University Health Network, Toronto, Ontario, Canada
  16. 16 Department of Genetics, CHEO, Ottawa, Ontario, Canada
  17. 17 Department of Clinical Laboratory Genetics, Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada
  18. 18 Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada
  19. 19 Odette Cancer Centre, Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada
  20. 20 Division of Diagnostic Medical Genetics, Sinai Health System, Toronto, Ontario, Canada
  21. 21 Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada
  1. Correspondence to Dr Harriet Feilotter, Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada; hf4{at}


Background Genetic testing for hereditary cancer susceptibility has advanced over time due to the discovery of new risk genes, improved technology and decreased cost. In the province of Ontario, testing eligibility criteria were initially developed to include hereditary breast, ovarian and colorectal cancer syndromes. The rapid evolution of genetic technologies has facilitated the ability to interrogate a large number of genes concurrently. This, coupled with new knowledge about risk genes, necessitated a coordinated approach to expanding the scope of genes and indications tested and synchronisation of access and test utilisation across the province as required in a publicly funded universal healthcare system.

Methods Ontario Health—Cancer Care Ontario convened expert working groups to develop a standardised and comprehensive cancer gene list for adults and accompanying hereditary cancer testing (HCT) criteria using an evidence-based framework and broad laboratory and clinical genetics engagement.

Results A standardised 76-cancer-gene panel, organised into 13 larger disease site panels and 25 single/small gene panels, was developed and endorsed by the working groups. Provincial genetic testing eligibility criteria were updated to align with the new panels and to guide clinical decision-making. In the first year following the implementation of these changes, 10 564 HCT panels were performed with an overall mutation detection rate of 12.2%.

Conclusion Using an evidence framework and broad clinical engagement to develop and endorse an updated guidance document, cancer genetic testing for adults in Ontario is now standardised and coordinated across the province.

  • evidence-based practice
  • genetic counselling
  • genetic predisposition to disease
  • genetic testing
  • health services administration

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information.

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  • KAB and RK contributed equally.

  • Contributors Working group members contributed time and expertise toward achieving consensus in guideline development and included Corissa Androich, Melanie Care, Sylvie Grenier, George Charames, Hong Wang, Daria Grafodatskaya, Ingrid Ambus, Andrea Blumenthal, Spring Holter, Lauren Hughes, Brian Lo, Christian Ceron, Justin Lorentz and Neda Stjepanovic. Concept and design: KAB, RK and HF. Acquisition, analysis and interpretation of data: JH, GK, AP, RH and HF. Drafting of the manuscript: KAB, RK and HF with inputs from all the authors. Critical revision of the paper for important intellectual content and final approval of manuscript: all authors. Guarantor: HF.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Disclaimer The opinions, results, view and conclusions reported in this publication are those of the authors and do not necessarily reflect those of Ontario Health (Cancer Care Ontario). No endorsement by Ontario Health (Cancer Care Ontario) is intended or should be inferred.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Author note OH-CCO is designated a 'prescribed entity' for the purposes of section 45(1) of the Personal Health Information Protection Act of 2004. As a prescribed entity, OH-CCO is authorised to collect personal health information from health information custodians without the consent of the patient and to use such personal health information for the purpose of analysis or compiling statistical information with respect to the management, evaluation or monitoring of the allocation of resources to or planning for all or part of the health system, including the delivery of services. Because this study is in compliance with privacy regulations, ethics review was not required. Research reported in this publication was supported by OH-CCO through in-kind contributions of agency time, staff and resources for administrative support of working group activities.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.