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🎙️ Episode 67: Mainstreaming Clinical Genetic Testing — A Conceptual Framework
🎙️ Episode 67: Mainstreaming Clinical Genetic Testing — A Conceptual Framework
🧬 In this episode of Base by Base, we explore a unified approach to integrating genetic testing into routine patient care, as proposed by Mackley et al. (2025) in Genetics in Medicine. Drawing on a national Canadian focus group of clinical genetics experts, the authors establish consensus definitions for key terms such as “mainstreaming,” “diagnostic genetic test,” and “genetics service,” then map the diagnostic care pathway into four stages—assessment, pre-testing, laboratory, and post-testing—and identify the variables that determine how responsibility shifts between non-geneticist clinicians and genetics teams .
🔍 Study highlights: The authors clarify foundational terminology and outline the full set of activities in the genetic testing process; they identify six categories of variables—patient, disease, test, clinician, report, and health-system characteristics—that influence each scenario’s readiness for mainstreaming; they propose four distinct models of care (from “to-test,” where genetics services arrange testing based on referral details, through “to-navigation,” where non-geneticist clinicians manage nearly all steps, to a fully autonomous model); they provide a decision tree guiding when genetics services should re-engage under the “to-navigation” model; and they emphasize the need for standardized implementation and evaluation to enable cross-program comparisons.
🧠Conclusion: By offering a granular yet generalizable roadmap, this framework empowers healthcare teams to design, assess, and refine mainstreaming strategies, fostering effective partnerships between genetics specialists and front-line providers to optimize resources and improve patient access to genomic medicine.
đź“– 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 License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/
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By Gustavo Barra🎙️ Episode 67: Mainstreaming Clinical Genetic Testing — A Conceptual Framework
🧬 In this episode of Base by Base, we explore a unified approach to integrating genetic testing into routine patient care, as proposed by Mackley et al. (2025) in Genetics in Medicine. Drawing on a national Canadian focus group of clinical genetics experts, the authors establish consensus definitions for key terms such as “mainstreaming,” “diagnostic genetic test,” and “genetics service,” then map the diagnostic care pathway into four stages—assessment, pre-testing, laboratory, and post-testing—and identify the variables that determine how responsibility shifts between non-geneticist clinicians and genetics teams .
🔍 Study highlights: The authors clarify foundational terminology and outline the full set of activities in the genetic testing process; they identify six categories of variables—patient, disease, test, clinician, report, and health-system characteristics—that influence each scenario’s readiness for mainstreaming; they propose four distinct models of care (from “to-test,” where genetics services arrange testing based on referral details, through “to-navigation,” where non-geneticist clinicians manage nearly all steps, to a fully autonomous model); they provide a decision tree guiding when genetics services should re-engage under the “to-navigation” model; and they emphasize the need for standardized implementation and evaluation to enable cross-program comparisons.
🧠Conclusion: By offering a granular yet generalizable roadmap, this framework empowers healthcare teams to design, assess, and refine mainstreaming strategies, fostering effective partnerships between genetics specialists and front-line providers to optimize resources and improve patient access to genomic medicine.
đź“– 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 License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/