🎙️ Episode 66: Mainstreaming Clinical Genetic Testing — A Conceptual Framework

🧬 In this episode of Base por Base, we delve into the consensus-based framework introduced by Mackley et al. (2025) in Genetics in Medicine, which proposes a structured approach to integrate genetic testing into non-geneticist clinical practice to meet growing demand amid a stable genetics workforce .

🔍 Study Highlights:
The authors convened a focus group of thirty-five experts representing twenty clinical genetics services across Canada to define “mainstreaming,” map the diagnostic care pathway into assessment, pre-testing, laboratory, and post-testing stages, and identify key variables influencing model selection . The framework outlines six categories of variables—patient characteristics, disease features, test complexity, clinician expertise, report design, and health-system context—that determine the appropriateness of different mainstreaming models . It describes four generalizable models—“to-test,” “to-result,” “to-navigation,” and fully mainstreamed—that reflect progressively shifting responsibilities from the genetics service to non-geneticist clinicians . Designed for adaptability, the taxonomy facilitates standardized evaluation of accessibility, sustainability, diagnostic yield, and patient satisfaction across diverse clinical settings .

🧠 Conclusion:
This conceptual framework provides a unified roadmap for designing, implementing, and evaluating mainstreaming initiatives in clinical genetics, optimizing scopes of practice while improving patient access to genomics-informed care .

📖 Reference:
Mackley MP, Richer J, Guerin A, et al. Mainstreaming of clinical genetic testing: a conceptual framework. Genetics in Medicine. 2025. https://doi.org/10.1016/j.gim.2025.101465

📜 License:
This episode is based on an open access article published under the Creative Commons Attribution 4.0 International (CC BY 4.0) license – https://creativecommons.org/licenses/by/4.0/