Sneak Peek: Innovation in Clinical Diagnostics Report

The global advance of health care increasingly depends 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, assess their health risk, and determine which remedies are best suited for prevention or treatment. These capabilities underlie the field of molecular diagnostics (MDx) – laboratory tests using state-of-the-art analytical instrumentation that identify a disease or predisposition to a disease by analyzing DNA, RNA, or their proteins.

There are a variety of MDx techniques used in hospitals, research labs, clinics, and commercial or reference labs that are used to detect nucleic acids and proteins for diagnostic or monitoring purposes. Most require an analytical instrument, such as a PCR machine, mass spectrometer, or sequencer. The companies that manufacture these instruments continually look for ways to enhance their detection capabilities and expand the science into new applications. When a new instrument or instrument-based technique hits the market, it generally begins as a clinical or translational research tool designed to study nucleic acids and proteins. While MDx techniques evolve in different ways and not all methods survive, those that do typically transition from basic research to lab developed tests (LDTs) in applied testing and diagnostic markets, where they are able to be used in a more routine and trusted capacity. Techniques can evolve a step further and achieve approval from country or region specific regulatory agencies— a process which requires rigorous testing to ensure that quality and performance standards are maintained.

The MDx market therefore has two major segments, both of which are equally important to the success of the overall program of disease detection and monitoring: clinical research and molecular in vitro diagnostics (IVD). Clinical research involves the development of assays for molecular diagnostics, biomarker discovery, and pharmacogenomic applications. Molecular IVD embodies the analysis and detection of infectious disease, cancer, genetic disorders, metabolic ailments, and others. It represents about one-tenth of the IVD market and is the fastest growing segment within IVD.

In this report, we present a thorough picture of the MDx market – its current situation, trends, and recent market-oriented data about analytical solutions being used in this field. This report does not aim to be exhaustive, but it does provide information on those techniques where innovation in established technology platforms is most applicable to clinical diagnostics. Thus, the scope of this report is not limited nucleic acid based techniques (amplification, sequencing, microarrays and in situ hybridization), but also includes mass spectrometry and HPLC for the analysis of proteins, hormones, drugs, and other complex, bioactive molecules.

PCR hi res(1) The overall MDx market for analytical instrumentation—as defined in the context of this report—was about $7.5 billion in 2016. Demand from molecular IVD comprises about two-thirds of the market and demand from clinical research comprises the remaining third. Growth will be driven largely by next generation sequencing, but  also by mass spectrometry and liquid chromatography. The nucleic acid amplification market represents nearly half of overall demand, as the technology is considered standard for disease diagnoses and control, but the advent of personalized medicine in particular is expected to drive sales. Large companies such as Roche, Illumina, Agilent, Abbott, and Thermo Fisher Scientific dominate many of the markets within the overall MDx market, but the landscape is still largely fragmented, with no clear market leaders in several spaces. This, combined with the influx of new technologies and techniques, presents a unique opportunity for companies looking to meet consumer needs and either expand into current markets or expand their product and service offerings into entirely new markets.