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PubMed · 40417744

Mainstreaming of clinical genetic testing: A conceptual framework.

Michael P Mackley·Julie Richer·Andrea Guerin·Oana Caluseriu·Linlea Armstrong·Katherine A Blood·Francois Bernier·Christie Boswell-Patterson·Marisa Chard·Gregory Costain·David Dyment·Alison Eaton·Hanna Faghfoury·Patrick Frosk·Meredith K Gillespie·Elaine S Goh·Robin Z Hayeems·Bita Hashemi·A Micheil Innes·Molly Jackson·Anne-Marie Laberge·Jacqueline Limoges·Christian Marshall·Hugh McMillan·Tanya N Nelson·Matthew Osmond·Jillian Parboosingh·Lynette Penney·Bradley Prince·Sarah L Sawyer·Victoria Mok Siu·Mary Ann Thomas·Lesley Turner·Noémie Villeneuve-Cloutier·Taila Hartley·Kym M Boycott
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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.

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HumansGenetic TestingCanadaGenetics, MedicalFocus GroupsClinical geneticsGenetic testingGenomic testingMainstreamingService delivery modelsJournal ArticleResearch Support, Non-U.S. Gov't

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Michael P Mackley, Julie Richer, Andrea Guerin, Oana Caluseriu, Linlea Armstrong, Katherine A Blood, Francois Bernier, Christie Boswell-Patterson, Marisa Chard, Gregory Costain, David Dyment, Alison Eaton, Hanna Faghfoury, Patrick Frosk, Meredith K Gillespie, Elaine S Goh, Robin Z Hayeems, Bita Hashemi, A Micheil Innes, Molly Jackson, Anne-Marie Laberge, Jacqueline Limoges, Christian Marshall, Hugh McMillan, Tanya N Nelson, Matthew Osmond, Jillian Parboosingh, Lynette Penney, Bradley Prince, Sarah L Sawyer, Victoria Mok Siu, Mary Ann Thomas, Lesley Turner, Noémie Villeneuve-Cloutier, Taila Hartley, Kym M Boycott. 2025-05-22. Mainstreaming of clinical genetic testing: A conceptual framework.. https://doi.org/10.1016/j.gim.2025.101465

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