Mainstreaming of clinical genetic testing: A conceptual framework

Michael P Mackley¹, Julie Richer², Andrea Guerin³, Oana Caluseriu⁴, Linlea Armstrong⁵, Katherine A Blood⁶, Francois Bernier⁷, Christie Boswell-Patterson⁸, Marisa Chard⁹, Gregory Costain¹⁰, David Dyment², Alison Eaton⁴, Hanna Faghfoury¹¹, Patrick Frosk¹², Meredith K Gillespie², Elaine S Goh¹³, Robin Z Hayeems¹⁴, Bita Hashemi¹⁵, A Micheil Innes⁷, Molly Jackson¹⁶, Anne-Marie Laberge¹⁷, Jacqueline Limoges¹⁸, Christian Marshall¹⁹, Hugh McMillan²⁰, Tanya N Nelson²¹, Matthew Osmond²², Jillian Parboosingh⁷, Lynette Penney²³, Bradley Prince¹⁶, Sarah L Sawyer², Victoria Mok Siu²⁴, Mary Ann Thomas⁷, Lesley Turner⁹, Noémie Villeneuve-Cloutier⁸, Taila Hartley²², Kym M Boycott²⁵

Affiliations

¹ Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: michael.mackley@sickkids.ca.
² Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.
³ Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON, Canada.
⁴ Department of Medical Genetics, Medical Genetics Clinic, University of Alberta, Edmonton, AB, Canada.
⁵ Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, BC, Canada.
⁶ Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
⁷ Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
⁸ Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada.
⁹ Discipline of Pediatrics, Faculty of Medicine, Memorial University, St. John's, NL, Canada.
¹⁰ Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.
¹¹ Department of Medicine, Fred A Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and Toronto General Hospital, Toronto, ON, Canada.
¹² Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.
¹³ Clinical Genetics, Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
¹⁴ Program in Child Health Evaluative Sciences, SickKids Research Institute, Toronto, ON, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
¹⁵ Division of Medical Genetics, Department of Paediatrics, Royal University Hospital, Saskatoon, SK, Canada.
¹⁶ Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
¹⁷ Department of Pediatrics, University of Montreal, Montreal, QC, Canada; Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC Canada.
¹⁸ Faculty of Health Disciplines, Athabasca University, Athabasca, AB, Canada; Ontario Cancer Research Ethics Board, Ontario Institute for Cancer Research, Toronto, ON, Canada.
¹⁹ Department of Paediatric Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.
²⁰ Division of Neurology, Department of Pediatrics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada.
²¹ Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and BC Women's Hospitals, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
²² CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.
²³ Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, NS, Canada.
²⁴ Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
²⁵ Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca.

PMID: 40417744
DOI: 10.1016/j.gim.2025.101465

Free article

Mainstreaming of clinical genetic testing: A conceptual framework

Michael P Mackley et al. Genet Med. 2025 Aug.

Free article

. 2025 Aug;27(8):101465.

doi: 10.1016/j.gim.2025.101465. Epub 2025 May 22.

Authors

Affiliations

¹ Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: michael.mackley@sickkids.ca.
² Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.
³ Division of Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON, Canada.
⁴ Department of Medical Genetics, Medical Genetics Clinic, University of Alberta, Edmonton, AB, Canada.
⁵ Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Provincial Medical Genetics Program, BC Women's Hospital, Vancouver, BC, Canada.
⁶ Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
⁷ Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
⁸ Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada.
⁹ Discipline of Pediatrics, Faculty of Medicine, Memorial University, St. John's, NL, Canada.
¹⁰ Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.
¹¹ Department of Medicine, Fred A Litwin and Family Centre in Genetic Medicine, Mount Sinai Hospital and Toronto General Hospital, Toronto, ON, Canada.
¹² Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB, Canada.
¹³ Clinical Genetics, Department of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
¹⁴ Program in Child Health Evaluative Sciences, SickKids Research Institute, Toronto, ON, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.
¹⁵ Division of Medical Genetics, Department of Paediatrics, Royal University Hospital, Saskatoon, SK, Canada.
¹⁶ Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
¹⁷ Department of Pediatrics, University of Montreal, Montreal, QC, Canada; Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC Canada.
¹⁸ Faculty of Health Disciplines, Athabasca University, Athabasca, AB, Canada; Ontario Cancer Research Ethics Board, Ontario Institute for Cancer Research, Toronto, ON, Canada.
¹⁹ Department of Paediatric Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children, Toronto, ON, Canada.
²⁰ Division of Neurology, Department of Pediatrics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada.
²¹ Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Division of Genome Diagnostics, Department of Pathology and Laboratory Medicine, BC Children's and BC Women's Hospitals, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada.
²² CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada.
²³ Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, NS, Canada.
²⁴ Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada.
²⁵ Department of Genetics, CHEO (Children's Hospital of Eastern Ontario), Ottawa, ON, Canada; CHEO (Children's Hospital of Eastern Ontario) Research Institute, University of Ottawa, Ottawa, ON, Canada. Electronic address: kboycott@cheo.on.ca.

PMID: 40417744
DOI: 10.1016/j.gim.2025.101465

Abstract

Purpose: Demand for genetic testing is increasing across medicine, whereas the genetics workforce remains stable. In response, mainstreaming models are being introduced, in which nongeneticist clinicians are increasingly involved in the genetic testing pathway. Because a standardized approach would facilitate evaluation and optimal patient care, a unified framework is warranted.

Methods: Through a focus group with clinical genetics experts, a conceptual framework for the mainstreaming of clinical genetic testing is proposed. Through a consensus process, experts elucidated the steps in the diagnostic care pathway and defined a set of variables that influence which mainstreaming model is best suited to specific patient care scenarios.

Results: A total of 35 individuals representing 20 distinct clinical genetics services and all Canadian provinces participated in the development of the framework. The framework describes 4 generalizable mainstreaming models of care, each with varying levels of involvement of the clinical genetics service in the diagnostic care pathway.

Conclusion: This framework will help guide clinical teams in the design and evaluation of mainstreaming efforts. It is critical that these programs are evaluated and shared in a standardized way so that we can implement strategies that allow optimal utilization of genetics resources and improve patient care.

Keywords: Clinical genetics; Genetic testing; Genomic testing; Mainstreaming; Service delivery models.

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Conflict of interest statement

Conflict of Interest The authors declare no conflicts of interest.

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Mainstreaming of clinical genetic testing: A conceptual framework

Affiliations

Mainstreaming of clinical genetic testing: A conceptual framework

Authors

Affiliations

Abstract

Conflict of interest statement

MeSH terms

LinkOut - more resources

Full Text Sources

Medical