By Stephen Vizcarra

October 12, 2018 -- The global advancement of health care and medication capabilities increasingly depend on the study of genetics and the human genome. Discovery of the underlying traits that determine genetic disorders now grant the ability to diagnose and monitor a patient’s disease, detect their health risk, and assess which remedies are best suited for prevention or treatment. The technologies able to perform these tests and engage in this type of research comprise the field of molecular diagnostics (MDx).

There are a variety of unique molecular diagnostic techniques that gather information about specific genome sequences or explore the proteome. In fact, this field of technological proficiency is continuously expanding and, garnering significant attention over the last several years, manufacturers of analytical instruments continue to monitor this space and expand the science into new application areas. As technologies mature, there is a natural transition for many analytical techniques from basic research and drug discovery implementations to clinical settings. In particular, molecular techniques continue to find broader utilization as diagnostic methods and disease monitoring. The nascent potential for growth outside the realms of basic research, drug discovery, and quality control applications are substantial.

The molecular diagnostics (MDx) market has two major segments, both of which are equally important to the success of the overall program of disease detection and monitoring: molecular in vitro diagnostics (IVD) and clinical research. Molecular IVD is the fastest growing segment within the IVD market, embodying the analysis and detection of infectious diseases, cancer, genetic disorders, metabolic ailments, and others. It uses advanced technologies that measure subcellular molecules such as nucleic acids and proteins. While this segment provides one part of the story, it does not provide a complete measure of the market. Another important segment is clinical research. It involves the development of assays for molecular diagnostics, biomarker discovery and pharmacogenomic applications.

Genetics and genomics are gradually marking out the new outlines of tomorrow's clinical diagnostics and our labs are investing heavily in these advanced technologies (NGS, i.e. Next Generation Sequencing), which already have a large number of applications for many people from NIPT (Non-Invasive Prenatal Testing) to predictive genetics of cancers or in personalized medicine that can offer patients individualized treatment based on their genetic and metabolic profiles.


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