Mainstreaming of clinical genetic testing: a conceptual framework

Demand for genetic testing is increasing across medicine while the genetics workforce remains stable. In response, mainstreaming models, where non-geneticist clinicians are involved in the genetic testing pathway, are being introduced. As a standardized approach would facilitate evaluation and optimal patient care, a unified framework is warranted. Through a focus group with clinical genetics experts, a conceptual framework for the mainstreaming of clinical genetic testing is proposed. Through a consensus process, experts elucidated the steps in the diagnostic care pathway and defined a set of variables that influence which mainstreaming model is best suited to specific patient care scenarios. 35 individuals representing 20 distinct clinical genetics services and all Canadian provinces participated in the development of the framework. The framework describes four generalizable mainstreaming models of care, each with varying levels of involvement of the clinical genetics service in the diagnostic care pathway. This framework will help guide clinical teams in the design and evaluation of mainstreaming efforts. It is critical that these programs are evaluated and shared in a standardized way so that we can implement strategies that allow optimal utilization of genetics resources and improve patient care.