Quality Management in Molecular Genetics

In the last decade, the demand for molecular genetic testing has increased enormously. Many of the laboratories that offer diagnostic molecular genetic testing on a routine basis originated from a research-based setting. The exponential growth of the clinical diagnostic molecular genetic laboratories (CDMGLs), together with improving technical approaches, has forced these laboratories to reorganize and standardize their methods and procedures, and to manage their increasing dataflow more efficiently. Better management of dataflow is important for confirmation of a clinical diagnosis. In most cases, direct mutation analysis of patients DNA now allows a definitive determination of carrier status or the risk of a fetus being affected. The results of DNA diagnostic tests are thus of major importance in clinical decision-making. Therefore, the quality of the whole laboratory process—from sample reception to reporting of the results, calibration of equipment to training of personnel, and documentation to method validation—should be managed systematically.