Molecular Pathology Laboratory Management

Abstract

Clinical molecular pathology tests identify or measure molecular and genetic markers for an individual patient. These markers confirm a diagnosis, predict prognosis, guide treatment, and monitor response to therapy. The rapid turnaround time, reliability, and high accuracy of molecular pathology tests have reduced the occurrence and cost of health care services, enhanced patient outcome, and improved disease management, making molecular pathology one of the fastest-growing sectors of clinical pathology, with more than 2,500 tests currently available in the National Institutes of Health Genetic Testing Registry (NIH GTR) (Rubinstein et al., Nucleic Acids Res 41(Database issue): D925–D935, 2013). The vast majority of these tests are developed and performed as laboratory developed tests (LTDs), which to date have limited oversight by the US Food and Drug Administration. Regulatory and quality oversight of all clinical testing in the USA is provided by the Clinical Laboratory Improvement Act of 1988 and its implementation through the Centers for Medicare and Medicaid Services. The operation of a clinical molecular pathology laboratory requires integration of medical, scientific, and clinical molecular pathology expertise, resources including facilities, equipment, and personnel, and skills in organization, administration, management, and communication. Quality service is achieved by adherence to clinical laboratory regulations and standards, from specimen collection and processing to reporting of patient results. This chapter reviews fundamental knowledge important for the management and operation of a clinical molecular pathology laboratory.