Journal of Cellular & Molecular Pathology

“Molecular diagnostics” is a broad term describing a class of diagnostic tests that assess a persons health literally at a molecular level, detecting and measuring specific genetic sequences in deoxyribonucleic acid (DNA) or ribonucleic acid (RNA) or the proteins they express. Molecular diagnostics identify gene, RNA, and protein variations that shed light on whether a specific person is predisposed to have a disease, whether they actually have a disease, or whether a certain treatment option is likely to be effective for a specific disease. These tests also can detect and quantify the presence of specific viruses, bacteria, or types of cells.

Many of our bodily processes, both normal and abnormal, as well as health or disease states, are driven by the interaction of our genes and the proteins they produce that carry out specific functions within the body. Therefore, the ability to quickly and accurately assess an individuals health at this molecular level is truly transforming the practice of medicine.

Continuous innovation in technology is increasing the speed and performance of molecular diagnostics, and a future in which whole genome sequencing is routinely performed is not far away. Increasing automation is enabling sophisticated molecular tests to be performed in the full scope of health care settings, bringing state of the art diagnostics to all areas of the world.