Concepts in Molecular Diagnostics

Catalog description

The primary goal of this course is to familiarize students with the fundamental molecular, pathologic, genetic and genomic concepts that drive the development and practice of ‘diagnostics genetics’. Course discussions held within the framework of evidence-based lab medicine focus on the contributions of diagnostic genetics and genomics in disease diagnosis, prevention and in personalized therapy. Topics comprise four overlapping areas: 1) Theoretical foundations of Molecular Diagnostic Techniques 2) Concepts in Genomics and Transcriptomics; 3) Established Applications of Molecular Methods: Cancer and Infectious Disease Diagnostics; Pharmacogenomics and related topics; and, 4) Development and Evaluation of New Molecular Tests - via PICDIn and critical analyses of recent publications. Where required, appropriate CLIA requirements and CLSI guidelines will be discussed to highlight the implementation of Quality Assessment (QA) and Quality Control (QC) in molecular diagnostic tests.