Developments in molecular diagnostics

Daniela Basso, Carlo-Federico Zambon, Filippo Navaglia, Andrea Padoan, Stefania Moz, Dania Bozzato, Ada Aita, Mario Plebani


The present article provides an overview on the rapidly evolving scenario in clinical molecular diagnostics. The concept of clinical validity and utility underpins the use of molecular diagnostic tests in the clinical laboratory, and continuous sharing of expertise between clinical and laboratory partners will enhance appropriateness of molecular testing and interpretation, thus improving personalized medicine. Thanks to the technological advances made in molecular diagnostics, above all in next generation sequencing (NGS) and digital polymerase chain reaction (dPCR) platforms, clinical laboratories benefit from rapid translation of established and emerging molecular tests. The examples of their application which will be discussed encompass cystic fibrosis (CF) (qualitative molecular) and BCR/ABL1 (quantitative molecular) tests. A final consideration on total quality assurance in molecular testing is also made and the role of accreditation is underlined as one of the main factors in guaranteeing the overall quality of molecular test results.