66: Mainstreaming Clinical Genetic Testing: A Conceptual Framework

Mackley MP et al., Genetics in Medicine - This episode summarizes a consensus-derived framework for mainstreaming clinical genetic testing developed from a Canadian expert focus group. The framework defines terminology, maps diagnostic pathway activities, and describes four models that vary by when genetics services become involved. Key terms: Clinical genetics, Genetic testing, Mainstreaming, Service delivery, Genomic medicine. Study Highlights:The authors convened a consensus focus group of 35 genetics experts from 20 clinical genetics services across Canada and combined this with literature review and iterative manuscript revision. They produced consensus definitions for mainstreaming-related terms and grouped diagnostic activities into four stages. The framework defines four mainstreaming models (to-test, to-result, to-navigation, autonomous) distinguished by the point at which responsibility shifts from nongeneticist clinicians to genetics services and identifies six categories of variables that influence model suitability. The authors propose the framework to guide standardized design, reporting, and evaluation of mainstreaming efforts to optimize genetics resources and patient care. Conclusion:A generalizable, high-level framework describing four mainstreaming models and influencing variables can guide implementation and standardized evaluation of clinical genetic testing outside traditional genetics services to improve access and resource use. Music:Enjoy the music based on this article at the end of the episode. Article title:Mainstreaming of clinical genetic testing: A conceptual framework First author:Mackley MP Journal:Genetics in Medicine DOI:10.1016/j.gim.2025.101465 Reference:Mackley MP, Richer J, Guerin A, et al. Mainstreaming of clinical genetic testing: A conceptual framework. Genetics in Medicine. 2025;27:101465. doi: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/ Support:Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz71B2sN3RWac5gEg00 Official website https://basebybase.com On PaperCast Base by Base you'll discover the latest in genomics, functional genomics, structural genomics, and proteomics. Episode link: https://basebybase.com/episodes/mainstreaming-clinical-genetic-testing-framework QC:This episode was checked against the original article PDF and publication metadata for the episode release published on 2025-07-05. QC Scope:- article metadata and core scientific claims from the narration- excludes analogies, intro/outro, and music- transcript coverage: Audited the transcript sections that define the mainstreaming concept, describe the four models, enumerate the six influence variables, map models to the diagnostic care pathway, provide real-world examples, discuss reporting readability and workforce education, and cover limitations and cascade-screening implications.- transcript topics: Mainstreaming concept and framework; Four mainstreaming models: to-test, to-result, to-navigation, autonomous; Six variables influencing model suitability; Mapping models to diagnostic care pathway (assessment, pretesting, laboratory, post-testing); Real-world examples (CMA in autism, oncology panels, lab reporting/readability, cascade screening); Lab reporting readability and clinician education QC Summary:- factual score: 10/10- metadata score: 10/10- supported core claims: 7- claims flagged for review: 0- metadata checks passed: 4- metadata issues found: 0 Metadata Audited:- article_doi- article_title- article_journal- license Fac...