Show Notes
️ Episode 48: Mainstreaming Genetic Testing — A Conceptual Framework for Expanding Genomic Medicine
In this episode of Base by Base, we explore an important policy and practice shift presented by Mackley et al. (2025) in Genetics in Medicine. The authors propose a conceptual framework for the mainstreaming of clinical genetic testing, addressing the increasing demand for genomic services across medicine and the limited growth of the clinical genetics workforce. By redefining how genetic testing responsibilities can be shared between geneticists and non-geneticist clinicians, this framework aims to make genomic care more accessible, efficient, and scalable across health systems.
Study highlights:
The proposed framework identifies four general models for mainstreaming genetic testing, each defined by the point at which responsibility transfers from the non-geneticist clinician to the clinical genetics service.
Rather than a one-size-fits-all approach, the models are adaptable to local healthcare infrastructure, clinician expertise, disease complexity, and testing resources.
It accounts for patient, clinician, test, system, and disease-specific variables that affect the feasibility of mainstreaming in each case.
The framework emphasizes clear communication, structured roles, and robust support systems (e.g., embedded genetic counselors, lab support lines) to ensure quality and safety.
By standardizing terminology and outlining core diagnostic pathway activities, the framework allows healthcare systems to design, evaluate, and scale mainstreaming programs effectively.
Conclusion:
This framework marks a critical step toward integrating genomics more deeply into routine care by expanding the capacity of non-geneticist clinicians to manage genetic testing. Through thoughtful implementation and consistent evaluation, the model supports more equitable access to precision medicine while preserving the essential role of clinical genetics experts in complex cases.
Reference:
Mackley, M.P., Richer, J., Guerin, A., et al. (2025). Mainstreaming of clinical genetic testing: a conceptual framework. Genetics in Medicine. 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)
