Molecular diagnostics plays a significant role in the assessment of disease prognosis and therapy response as well as in the detection of minimal residual disease. In the past decade, molecular diagnostics has grown because of advanced clinical chemistries and instrumentation, including automation, robustness, integration, increased throughput, and the ability to use instrumentation in a random-access mode.
Laboratory diagnostic facilities are available both as part of an integrated molecular diagnostic department or as a sovereign facility. Specialized molecular diagnostics, cytogenetics, and biochemical genetics diagnostic tests are all available in most of these facilities. Some laboratory facilities have developed as part of other specialties like biochemistry, hematology, immunohematology, medical microbiology, infectious serology, immunology, and clinical pathology in the diagnostic laboratories. The combined laboratories are under the supervision of laboratory geneticists or medical geneticists whereas independent facilities are primarily monitored by laboratory geneticists.
Recent years have seen marked expansion of stand-alone private laboratories in the field of molecular diagnostic services. Technologies on current molecular diagnostic are based on the amplification of specific DNA sequences from extracted nucleic acids, DNA or RNA. Amplification techniques take tiny amounts of nucleic acid material and replicate them many times through enzymatic reactions – some that occur through cycles of heating and cooling.
These include methods that involve target amplification (e.g., polymerase chain reaction (PCR), reverse transcriptase-PCR (RT-PCR), strand displacement amplification, transcription amplification, signal amplification like hybrid capture, branched DNA assays, probe amplification like ligase chain reaction, cleavage-invader, cycling probes or post-amplification analysis (e.g., sequencing the amplified product or melting curve analysis as is done in real-time PCR). Availability of cytogenetic microarray and next-generation sequencing (NGS) testing has brought the diagnostics to the state-of-art level. Definitely, it demands accountable and knowledgeable biological experts for interpretation.
Increasing trend of molecular diagnostics
Some of the sophisticated instruments used in this market are mass spectrometry (MS), high-performance liquid chromatography (HPLC), and nuclear magnetic resonance (NMR), along with real-time PCR, lateral-flow devices, patient safety syringes, point-of-care testing (POCT) devices, and others.
Molecular diagnostics has played a vital role in changing the face of disease diagnostics and assuring speedy detection and accurate care for critically ill patients. The increase in per-capita health expenditure, the advancement in healthcare infrastructure, and the increase in the number of infectious diseases and cancer cases in the developed as well as in developing countries has led to a shift in trend from the traditional diagnostic methods to molecular diagnostics.
The global molecular diagnostics market is highly competitive and consists of several major players. In terms of market share, few of the major players currently dominate the market.
Diagnostic tests are usually conducted in clinical laboratories, equipped with appropriate instrumentation and staffed with trained and qualified personnel to perform the tests, under supervision of expert medical consultants in the relevant diagnostic filed.
Effect of molecular diagnostics
To develop effective rapid diagnostics, research scientists are increasingly moving away from the classical methods requiring culture of the pathogens and turning to scientific advances from a range of fields. To be precise, molecular diagnostics is currently considered to be one of the fastest growing areas in infectious disease identification, which include techniques such as extraction of deoxyribonucleic acid (DNA), microarray analysis, mass spectrometry, and nucleic acid amplification. Currently, just over 50 percent of the molecular diagnostics market is focused on infectious disease testing. Continuing development in other areas and the uptake of tests in the oncology field will surely drive future growth in the sector.
Further, the demand for personalized medicine across other disease areas is also expected to grow, particularly as cost pressures and poor efficacy rates of therapies demand a more targeted approach to prescribing specific medications.
Key growth drivers
Market leaders consist of a blend of diversified players, such as Roche Diagnostics, Novartis, Abbott, Alere, and Siemens, as well as niche companies that are highly specialized in molecular diagnostics, such as Qiagen, bioMérieux, and Cepheid and there is an increasing demand for panel rather than single pathogen diagnostics. There is some industry feedback indicating that panel diagnostics may be favored by payers given the approaches for economies of scope from the multi-function aptitudes.
Given the growth profile of the molecular diagnostics market, it has been an area of focus for deals and consolidation. Many diagnostic manufacturers that were under-represented in this area have sought partners or acquisitions to gain exposure, reflecting the growing interest in personalized medicine. Acquisitions by Qiagen and LabCorp are key examples of this trend. This is a trend that may continue given the relatively favorable growth outlook and the potential for premium pricing, and given the role molecular diagnostics may play in improving the clinical decision-making process.
More recent reports, however, suggest that early-stage venture capital interest in molecular diagnostics has cooled down as firms become wary of regulatory and reimbursement risks in the sector, with interest instead shifting to safer fields of diagnostics such as imaging.
A classic example: The Xpert MTB/RIF test (Cepheid), which became available in 2009, is revolutionizing TB identification, bringing diagnosis closer to the point of care. The cartridge-based, fully automated nucleic acid amplification test (NAAT) can be used by a relatively unskilled health worker to simultaneously detect both the presence of the mycobacterium tuberculosis pathogen and whether the strain harbors common rifampicin resistance-related mutations in less than 2 hours.
In the current era, a range of new tests has been developed to improve the speed of candidemia diagnosis, using technology such as PCR and molecular techniques. The T2 candida assay is a favorable one that uses magnetic biosensor nanotechnology intended to enable detection of DNA, ribonucleic acid (RNA), protein, small molecules, and other targets from a single blood sample in a one-step process that can be undertaken by non-specialist staff. Formal clinical trials are planned and put in real-time practice to assess the assay’s potential benefits, which may include reduced mortality and lower health-system costs.
Speeding up the detection of respiratory pathogens with multiplex devices, there is a broad range of causative organisms responsible for RTI (respiratory tract infections), making them challenging to diagnose. This problem is compounded by the fact that conventional diagnostic techniques can take up to 72 hours. To overcome these challenges, there has been a recent trend toward the development of multiplex devices – devices designed specifically to rapidly detect a variety of bacterial, viral, or fungal pathogens in a single test.
Re-appropriation of the testing protocols
Techniques commonly used in molecular diagnostic devices include real-time PCR, PCR microarray technology, and mass spectrometry. While some techniques are better suited to high-throughput laboratory testing, others are designed to support near-patient diagnosis. Diagnostic clinical laboratories have seen enhancement in a number of molecular techniques finding usefulness in diagnosis, monitoring, and rational follow-up of disease conditions.