Mackley Michael P, Richer Julie, Guerin Andrea, Caluseriu Oana, Armstrong Linlea, Blood Katherine A, Bernier Francois, Boswell-Patterson Christie, Chard Marisa, Costain Gregory, Dyment David, Eaton Alison, Faghfoury Hanna, Frosk Patrick, Gillespie Meredith K, Goh Elaine S, Hayeems Robin Z, Hashemi Bita, Innes A Micheil, Jackson Molly, Laberge Anne-Marie, Limoges Jacqueline, Marshall Christian, McMillan Hugh, Nelson Tanya N, Osmond Matthew, Parboosingh Jillian, Penney Lynette, Prince Bradley, Sawyer Sarah L, Siu Victoria Mok, Thomas Mary Ann, Turner Lesley, Villeneuve-Cloutier Noémie, Hartley Taila, Boycott Kym M
Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
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.
Genet Med. 2025 Aug;27(8):101465. doi: 10.1016/j.gim.2025.101465. Epub 2025 May 22.
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.
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.
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.
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.
医学领域对基因检测的需求不断增加，而遗传学专业人员数量保持稳定。作为回应，正在引入主流化模式，即非遗传学临床医生越来越多地参与到基因检测流程中。由于标准化方法将有助于评估和实现最佳的患者护理，因此需要一个统一的框架。
通过与临床遗传学专家进行焦点小组讨论，提出了临床基因检测主流化的概念框架。通过共识过程，专家们阐明了诊断护理流程中的步骤，并定义了一组变量，这些变量会影响哪种主流化模式最适合特定的患者护理场景。
共有来自20个不同临床遗传学服务机构以及加拿大所有省份的35人参与了该框架的制定。该框架描述了4种可推广的主流护理模式，每种模式中临床遗传学服务在诊断护理流程中的参与程度各不相同。
该框架将有助于指导临床团队进行主流化工作的设计和评估。至关重要的是，这些项目要以标准化方式进行评估和分享，以便我们能够实施策略，实现遗传学资源的最佳利用并改善患者护理。
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