ABSTRACT
This chapter provides an overview of molecular diagnostics, government regulations, and in a Clinical Laboratory Improvement Amendments (CLIA) laboratory for analyzing patient samples for companion diagnostics (CDx) purposes. Precision medicine has been defined as “identifying the right drug, for the right patients, at the right dose, at the right time.” Laboratory-developed tests (LDTs) have historically been used for molecular testing for rare disease analysis using in-house developed reagents in a single CLIA-certified laboratory. The main key technical performance characteristics required for the analytical validity of CLIA laboratory tests: accuracy, precision, analytical sensitivity, or limit of detection, analytical specificity, reportable range, and reference range or reference interval. Additional analytical performance characteristics may be considered for developing CLIA laboratory assays. These include trueness, linearity, robustness, and clinical sensitivity as well as clinical specificity. Quality control for CLIA laboratory operations, including genetic testing, is challenging to establish, especially for the next-generation sequencing assay.
