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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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.
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