Molecular Diagnostics, Poised To Become A Game Changer For Clinical Laboratories

Laboratories which have already adopted molecular diagnostic methods are now benefitted by increased accuracy and improved sensitivities in their tests compared to others.

Over the last several years, the expansion and application of molecular diagnostic technologies has spurred a revolution in the field of disease diagnosis and monitoring, especially for infectious diseases. Microbial phenotypic characteristics, such as bacteriophage, protein and chromatographic profiles, as well as susceptibility testing and biotyping, are now being used widely in today’s everyday laboratories for identification and differentiation. Further, molecular diagnostics have also paved the roads for the microbiologists who now go for more rapid and efficient means of microbial identification. Advancement in the molecular diagnostic technologies has thus opened new possibilities for microbial identification and characterization.

Currently, several molecular assays are being developed using a variety of technologies. Molecular diagnostics by using polymerase chain reaction (PCR) is now one of the leading molecular diagnostics technologies, which is being used for the rapid diagnosis of various diseases. High-end molecular diagnostic technologies such as next-generation sequencing (NGS) is offering valuable insights into the mechanisms of disease while genomic biomarkers are helping the physician to not only evaluate the disease predilection but also implement accurate diagnostic techniques and individualize medicinal modalities.

It is not wrong to state that molecular diagnostics has emerged dramatically over the last two decades, as advanced technologies have driven this industry toward the next level of significance. Laboratories that have already adopted molecular diagnostic methods have benefitted by increased accuracy and improved sensitivities in their tests compared to others. These new methods have greatly enhanced the discovery of many new microbial infections, as well as genetic illnesses. Those who were hesitating due to the challenges and expense of opening a molecular lab, now run the risk of being at a competitive disadvantage.

Technological advances
As demand for rapid molecular testing rises, technology trends have made these platforms stronger alternatives to microbiology tests. As the technology behind these tests has evolved, however, their ease of use has improved substantially.

PCR. Since the discovery of standard PCR, a large number of changes have been developed in its procedure. Some of these changes have expanded the utility and diagnostics capability of PCR in many biological and medical fields. Conventional PCR methods give only amplification of targeted DNA that is not enough for rapid disease diagnosis. In last few years, a new technique, RT-PCR, has been introduced. This technique is an improved form of conventional PCR in which the DNA can be quantified along with the amplification. Digital PCR (dPCR) is an increasingly popular manifestation of PCR that offers a number of distinctive advantages when applied to preclinical research. As is common with many new research methods, the application of dPCR to potential clinical scenarios is also being increasingly described.

PoC diagnostics. There is an enduring appeal to the concept of PoC or near-PoC diagnostic methods. Advances in miniaturization, nanotechnology, and microfluidics, along with developments in cloud-connected PoC diagnostics technologies are pushing the frontiers of POC devices toward low-cost, user-friendly, and enhanced sensitivity molecular-level diagnostics. The combination of various bio-sensing platforms within smartphone-integrated electronic readers provides accurate on-site and on-time diagnostics based on various types of chemical and biological targets. Further, 3D printing technology shows huge potential toward fabrication and improving the performance of POC devices. Integration of skin-like flexible sensors with wireless communication technology creates a unique opportunity for continuous, real-time monitoring of patients for both preventative healthcare and during disease outbreaks.

Image-based rapid diagnostic system. It provides a method for quickly determining which bacterial species are present in a patient sample and the susceptibility of those bacterial species to different antibiotics. Currently, it takes 48–72 hours or longer to get a specific diagnosis of a suspected bacterial infection and clarity about which drugs are appropriate to treat the infection. However, with the image-based rapid diagnostic system, that information can be gained in just 4–6 hours! And, when a patient is septic, every hour counts.

Molecular automation. Automation has come very far; in fact, it is poised to disrupt the very structure of molecular diagnostics laboratories. New molecular automation systems are capable of connecting directly to clinical chemistry and immunoassay lines, potentially moving high-volume testing out of molecular diagnostics entirely. Manufacturers now have a vision to allow customers to move routine molecular testing to the most high-production environment and that is in the core laboratory. Moving nucleic acid testing out of molecular laboratories presents a unique challenge, not just in automation but also in controlling the risk for contamination. A little bit of hepatitis C virus (HCV) RNA carried from one specimen to another will not make a difference in an immunoanalyzer, but would be a problem with molecular tests because their sensitivity is so high. Therefore, the onus is on IVD manufacturers to consider and to engineer their systems to prevent all forms of possible contamination. 

NGS. Undoubtedly, the most exciting and promising DNA diagnostic method for discovery and patient care is NGS. The ongoing rapid advances in NGS technologies and capabilities have been to reduce the sequencing and patient diagnosis time, since in the case of patient care, where time is critical, rapid infection identification and diagnosis is imperative. On the other hand, when compared to existing molecular diagnostic assays that can take a few minutes to a few hours, NGS tests are relatively slow, though recent advances are proving that the par is reducible.

Road Ahead
A common theme for healthcare in the coming years will be high efficiency through automated and easy-to-handle techniques combined with optimized sample preparation. Large research-based hospitals have already begun integrating molecular testing methods into their clinical labs with advanced processes. Technology has made new molecular diagnostic methods faster and less complex. Some of these tests are now automated and commercially available at a low cost. Even smaller labs are trying to acquire molecular capabilities with advanced technologies because they can benefit from simpler, easier to use, labor-saving systems. The powerful tools and more accurate detection of disease are giving the laboratories a key role in the emerging field of personalized medicine. The molecular diagnostics market is exploding very rapidly as it has proven readily versatile for use in the clinical laboratory and promises to be exceptionally useful in the diagnosis, therapy, and epidemiologic investigations of various diseases and their control; it is believed that the molecular diagnostics market will keep flourishing in the coming years. Also, rapid detection and tests accuracy are believed to drive demand for molecular diagnostic tests for infectious disease. Molecular diagnostics capability is set to become a game changer for clinical laboratories!