48: Mainstreaming Clinical Genetic Testing: A Framework for Care

Mackley MP et al., Genetics in Medicine - A consensus-driven conceptual framework from Canadian genetics experts describing four models for mainstreaming clinical genetic testing and the variables that determine which model fits specific clinical scenarios. Key terms: mainstreaming, genetic testing, clinical genetics, service delivery, framework. Study Highlights:An expert focus group and consensus process were used to develop a unified framework for mainstreaming clinical genetic testing. Thirty-five individuals representing 20 clinical genetics services contributed to delineating diagnostic care pathway stages and influencing variables. The framework defines four generalizable mainstreaming models with increasing involvement of nongeneticist clinicians. Variables across patient, disease, test, report, clinician, and system domains inform model suitability and transitions over time. Conclusion:The framework offers a standardized taxonomy to guide design, implementation, and evaluation of mainstreaming programs so genetics resources can be optimally utilized and patient access and care improved; real-world evaluation and broader stakeholder engagement are needed. 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. 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 2025-06-16. QC Scope:- article metadata and core scientific claims from the narration- excludes analogies, intro/outro, and music- transcript coverage: Audited the transcript sections that describe the mainstreaming framework, the four models (to-test, to-result, to-navigation, autonomous), the diagnostic care pathway stages, the influencing variables, practical examples (cancer/autism), safety nets (VUS), and lab report redesign plus limitations.- transcript topics: Definition and rationale for mainstreaming in clinical genetics; Four-stage diagnostic care pathway: assessment, pretesting, laboratory, post-testing; Four mainstreaming models: to-test, to-result, to-navigation, autonomous; Variables influencing model suitability (patient, disease, test, report, clinician, system); Examples and scenario mapping (cancer, autism spectrum disorder); Safety nets and lab report design to aid non-geneticists QC Summary:- factual score: 10/10- metadata score: 10/10- supported core claims: 6- claims flagged for review: 0- metadata checks passed: 4- metadata issues found: 0 Metadata Audited:- article_doi- article_title- article_journal- license Factual Items Audited:- Four generalizable mainstreaming models with progressive involvement of genetics services- Four-stage diagnostic care pathway: assessment, pretesting, laboratory, post-testing- Six influencing variables (patient, disease, test, diagnostic test...