Abstract
For several years, there have been discussions about using both Sanger and whole genome sequencing in clinical practice. In late 2009, the Medical College of Wisconsin initiated the infrastructure to streamline the delivery of current and emerging DNA technologies into state-of-the-art molecular diagnostics. The online publication of our initial case in Genetics of Medicine in late 2010 further intensified our efforts in this endeavor. However, being relatively new to the field of NextGen sequencing, we began with the addition of Sanger diagnostic sequencing to our already successful research core, which at that point had been in operation for almost ten years. This was a great undertaking, as typically, independent research laboratories performing cutting-edge science lack the financial resources and breadth of experience to launch their custom product or application to the diagnostic industry. An independent research laboratory is able to resolve these shortages by partnering with a core laboratory staffed with diagnostic expertise. Due to our lack of diagnostic experience, we quickly aligned the research core to a consortium of individuals with clinical experience to allow us to benefit from established diagnostic facilities on campus. Difficulties faced at the onset of diagnostic startup were many, including large issues such as accreditation program (CAP vs. CLIA), SOP generation and validation, competency and proficiency testing, and reimbursement, as well as smaller problems like semiannual pipette calibration, temperature monitoring, and inventory control. The purpose of this talk is to give insight into efficient ways to resolve these problems, both large and small, and transform a decade or more of research expertise into a viable diagnostic laboratory.