Mainstreaming of clinical genetic testing: A conceptual framework.

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.