Chapter 30 - Molecular Diagnosis of Human Disease

Abstract

Molecular diagnostics are increasingly used to guide patient management, from diagnosis to treatment, particularly in the fields of cancer, infectious disease, and congenital abnormalities. The increased demand for genetic and genomic information has led to the rapid expansion of molecular techniques within clinical laboratories. Critical to the success of clinical genomics is the maintenance of good laboratory practices and regulatory adherence, which can be challenging in the face of rapid growth, emerging technologies, and an evolving regulatory landscape. This chapter addresses the regulations put forth by CLIA and other regulatory agencies that have shaped the implementation of molecular diagnostics. We also provide pre- and postanalytic considerations for common applications of molecular techniques. As molecular diagnostics continues to expand, we discuss its utility in emerging areas including applications of cell-free DNA, gene expression profiling, and pharmacogenomics.