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Updated: Sep 20, 2025

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Mainstreaming of clinical genetic testing: A conceptual framework.

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Genetics in Medicine : Official Journal of the American College of Medical Genetics
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A new framework guides the integration of genetic testing into routine care. This approach supports non-genetics clinicians, standardizes evaluation, and optimizes the use of genetic resources for better patient outcomes.

Keywords:
Clinical geneticsGenetic testingGenomic testingMainstreamingService delivery models

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Area of Science:

  • Genetics
  • Healthcare Delivery
  • Medical Education

Background:

  • Increasing demand for genetic testing strains the existing genetics workforce.
  • Nongeneticist clinicians are increasingly involved in genetic testing pathways.
  • A standardized approach is needed for evaluating mainstreaming efforts and ensuring optimal patient care.

Purpose of the Study:

  • To propose a conceptual framework for mainstreaming clinical genetic testing.
  • To define a set of variables influencing the choice of mainstreaming models.
  • To facilitate the evaluation and implementation of genetic testing integration.

Main Methods:

  • A focus group with clinical genetics experts was conducted.
  • A consensus process was used to elucidate the diagnostic care pathway.
  • Variables influencing mainstreaming model selection were defined.

Main Results:

  • A framework for mainstreaming clinical genetic testing was developed.
  • The framework includes 4 generalizable models of care.
  • These models vary in the level of clinical genetics service involvement.

Conclusions:

  • The framework will guide clinical teams in designing and evaluating mainstreaming initiatives.
  • Standardized evaluation and sharing of programs are critical.
  • This will optimize genetics resource utilization and enhance patient care.