Fig. 1: Conceptual model representing key concepts linking laboratory business models, business practices, and availability of and access to germline testing.

As depicted, the conceptual model shows the laboratory business model, defined as the operational plan to market germline tests, influences the availability of germline genetic testing. We defined availability as the supply of germline tests (i.e., performed by a laboratory and included on the test menu). Factors external to the laboratory that influence laboratory business models include payer coverage and reimbursement policies; reimbursed Common Procedural Technology codes; testing volume; competition; complexity of the health insurance industry; consumer interest; evidence of clinical utility of germline testing; regulation; labor unions; and shareholders. Factors internal to the laboratory that influence the business model include laboratory structure (e.g., free standing vs. integrated within an organization); ability to automate and optimize processes; efficiencies of scale; culture/philosophy to generate the evidence showing clinical utility of germline testing; and philosophy regarding data sharing. The laboratory business practices, defined as the strategies to support the business plan, influence access to germline testing. We defined access as the opportunity to obtain germline tests. Factors external to the laboratory that influence business practices include germline testing volume; prior authorization requirements; payer requirements for reporting germline results; availability of the genetics workforce; and labor unions. Factors internal to the laboratory that influence business practices were related to the laboratory setting, e.g., the academic setting constrained pricing and hiring of staff. Utilization of germline tests occurs when there is uptake of germline testing by individuals.