Laboratory business models and practices: implications for availability and access to germline genetic testing

Area of Science:

• Genetics
• Laboratory Medicine
• Healthcare Management

Background:

• Germline testing laboratories have undergone significant evolution over decades.
• Understanding their business models is key to assessing testing availability and access.

Purpose of the Study:

• To describe germline testing laboratory business models and practices.
• To explore the implications of these models on germline testing availability and access.

Main Methods:

• Conducted semistructured interviews with 13 key informants representing 14 laboratories.
• Utilized purposive sampling, triangulation, and iterative data analysis.

Main Results:

• Characterized laboratories into full-service (FSL), for-profit germline (PGL), and not-for-profit germline (NGL) models.
• FSLs rely on payer contracts for high-volume, clinically useful tests. PGLs use direct patient billing with commodity pricing. NGLs, often academic, face challenges in process and billing optimization.

Conclusions:

• Germline testing availability and access are contingent upon laboratory financial success.
• Organizational, cultural (consumer trust), and societal factors (regulation, reimbursement laws) are critical determinants.