Molecular Diagnostics Revolutionizing Healthcare

Molecular diagnostics is a dynamic and transformative area of diagnostics leading to insights in research and treatment in many disease states that are revolutionizing healthcare. Molecular diagnostics detect and measure the presence of genetic material or proteins associated with a specific health condition or disease called as bio-markers, helping to uncover the underlying mechanisms of disease and enabling clinicians to tailor care at an individual level facilitating the practice of personalized medicine. These tests also can detect and quantify the presence of specific viruses, bacteria, or types of cells.

Molecular diagnostics today is routinely used in hospitals, reference labs, and blood banks. The overall global market was valued to be 64.6 billion dollars in 2017 which is expected to grow at about 12 percent annually. A number of techniques are employed in modern diagnostics to detect and quantify specific DNA or RNA sequences as well as proteins-ISH, FISH, chips and micro-arrays, mass spectrometry, and sequencing.

DNA sequence detection using polymerase chain reaction – one of the essential methods underlying many molecular diagnostics is amplification, the process of making copies of a specific DNA or RNA sequence found in a sample like blood or tumor until there are enough copies that can be detected and measured. There are a number of different amplification technologies but PCR is the most widely used and is considered a workhorse in molecular diagnostics.

Over time, the use of PCR evolved from diagnostics for single gene mutations, to amplification-based HIV viral load testing to multiplex testing to high-volume infectious disease testing. Molecular diagnostics forms an important tool for risk assessment, screening diagnosis, staging, prognosis, therapy selection, and monitoring of various diseases. The technological advances and low costing are allowing these tests to become mainstream for clinical applications.