Biomarkers and Molecular Diagnostics

Abstract

Clinical application of molecular technologies for analysis of biomolecules to elucidate, diagnose and monitor human diseases is referred to as molecular diagnosis. It is a broad term and includes technologies that use DNA, RNA, genes or proteins as bases for diagnostic tests. Use of monoclonal antibodies (MAbs) and enzyme-linked immunosorbent assay (ELISA) is included in a broader term “in vitro diagnostics (IVD)”, which also covers many applications not necessarily related to healthcare. “In vivo diagnostics” is the application of molecular diagnostics in the living subject, human or animal. It includes molecular imaging, which is the exploitation of specific molecules for image contrast and refers to the in vivo measurement and characterization of cellular and molecular level processes in animal or human subjects. There are over 600 molecular diagnostic systems of various types and this topic is covered in detail in a special report (Jain 2017). Molecular diagnostics overlaps with biomarkers. Biomarkers can be discovered with molecular diagnostic technologies and may also form the basis of molecular diagnostic tests.