MDx driving healthcare forward

Molecular diagnostics has become an important pillar of healthcare in the current times. With the advancements in its techniques, molecular diagnostic is benefitting clinical medical settings. The industry has developed many new diagnostic technologies for infectious diseases and cancer patients, in recent times which has brought molecular diagnostic to the center stage in the healthcare system.

Over the last two years, the molecular diagnostics market has seen a handful of billion-dollar merger and acquisition deals, which have helped to expand and evolve the capabilities of larger companies in areas, such as in vitro diagnostics and precision medicine. Three billion-dollar deals signed in the past few years have been executed to improve diagnostic solutions in many therapeutic areas, including oncology, infectious, and respiratory diseases.

The most recent billion-dollar deal was signed in October 2022 when Thermo Fisher announced that it was acquiring the Binding Site Group from a group of equity investors. The Binding Site Group is a global specialist in protein diagnostics and an industry leader in diagnostic testing and monitoring of multiple myeloma. This acquisition will complement the current diagnostics services work of Thermo Fisher.

A few months before Thermo Fisher’s deal, SD Biosensor, along with private equity firm SJL Partners, led a consortium to purchase the diagnostic solutions and life sciences raw materials company Meridian Bioscience for USD 1.5 billion. Meridian Bioscience is a well-established global provider of innovative diagnostics products, covering the whole spectrum of services from manufacturing to marketing. The company currently serves a range of customers, including research centers, hospitals, laboratories, and biotech companies.

Finally, Roche expanded its diagnostic portfolio through its USD 1.8 billion acquisition of GenMark.

Advances in molecular diagnostics are dramatically improving medical treatment outcomes in current times. Due to drug failure in clinical trials and regulatory barriers, bio-pharmaceutical companies are turning toward new medical solutions at the molecular level and molecular diagnostics. In addition, next-generation sequencing (NGS) and clustered regularly interspaced short palindromic repeats (CRISPER) technology significantly improve molecular diagnostics for oncology and infectious diseases care.

A huge patient base with infectious and chronic diseases promotes demand for MDx solutions and propels market expansion. Molecular diagnostic technology provides an improved choice for the diagnosis of infectious diseases, compared to traditional diagnostic techniques, such as microbial culture, hemagglutination inhibition tests, and ELISA. The careful selection and combination of different molecular diagnostic technologies according to a user’s needs can provide a timely and accurate diagnosis of infectious disease pathogens, and facilitate precision treatment, to effectively control diseases.

qPCR technology is mature, low-cost, and suitable for the qualitative and quantitative analysis of common pathogens in standard laboratories. dPCR can be used for the absolute quantification of target genes in samples, and is particularly suitable for the analysis of samples containing low pathogen levels, and the detection of small mutations and rare allele targets. As a fast, high-throughput and cost-effective technique, HRM is often used for mutation detection and large-scale analysis of single nucleotide polymorphisms. Isothermal PCR can be used for nucleic acid amplification at a constant temperature, which does not require a thermocycler, and is more suitable for the rapid detection of pathogens in resource-limited areas and primary medical units. Gene chip technology has the ability to detect and identify multiple pathogens simultaneously, which is particularly useful in clinical settings for the pathogenic composition determination of mixed infections. However, this technology can only screen for the genomes of known pathogens and cannot detect new, unknown pathogens, unlike gene sequencing technology, which can comprehensively detect the types and sequences of pathogens.

These molecular diagnostic techniques need further improvement. First, nucleic acid extraction and purification steps in molecular diagnostic techniques are cumbersome. Therefore, it is essential to streamline the existing nucleic acid extraction procedures or develop molecular techniques to avoid nucleic acid extraction. Second, most molecular diagnostic reagents require low-temperature transport and storage, which increases the cost of molecular diagnostics and hinders their application in remote or resource-limited areas, so ready-to-use, room temperature-stable reaction mixtures need to be studied to reduce costs and increase their applicability in these areas. Finally, molecular diagnostic techniques such as qPCR, dPCR, and sequencing are instrument-dependent, meaning that rapid on-site detection of pathogens in resource-limited conditions can prove difficult. Continuous improvement of molecular diagnostic technology will help to create more high-throughput, automated, and portable instruments, with high sensitivity and specificity to aid in the rapid diagnosis and treatment of infectious diseases worldwide.

Other molecular diagnostic techniques
Biosensing technology uses a combination of target biomarkers and ionic-conductive materials to generate signals, which are detected and analyzed by sensors (optical, electrochemical, or piezoelectric) and reading devices. Currently, the use of photoelectric biosensing of nucleic acids is increasing in popularity due to its sensitivity and speed for the early diagnosis and quantitative analysis of infectious diseases. Sheng et al. developed a label-free biosensor with an RNA aptamer for the sensitive, rapid quantitative detection of food pathogens without the isolation, purification, and enrichment processes. A further study found that optical label-free biosensors can detect and quantify MTB, mycobacterial proteins and interferons quickly and efficiently, making them beneficial for the early detection of tuberculosis.

Fluorescence in situ hybridization (FISH) is a molecular diagnostic technique used to detect and localize specific nucleic acid sequences in cells. To improve throughput, FISH can be used in combination with flow cytometry to detect target nucleic acid sequences in thousands of individual cells. Flow cytometry-based FISH (flow-FISH) uses fluorescent probes that target DNA or RNA to detect specific genes or pathogens; it can also be multiplexed so that multiple gene targets or pathogens can be measured simultaneously. Flow-FISH has been used for bacterial identification and detecting gene expression for monitoring viral multiplication in infected cells, and for colony analysis and counting. Recently, the use of in vivo bacterial sorting technology assisted by flow-FISH has made it easier to isolate, classify, and purify live bacteria, based on target genes, and to study the role of target genes in the growth, substance metabolism, bacterial virulence, and antibiotic resistance of bacteria.

Mass spectrometry analysis of the molecular mass and charge of biomarkers will improve the quality of the model, compared with the reference spectra, and can be used for the identification of pathogenic microorganisms at the species and genus levels; with its high accuracy and signal-acquisition speed, it is expected to become a routine tool for rapid clinical analysis of multiple pathogenic microorganisms in a single sample.

In addition to rising R&D efforts, the increase in infectious diseases worldwide and the rising demand for point-of-care diagnostic solutions have all added to the new innovations and latest developments in the molecular diagnostics industry. Emerging economies as India, present substantial growth potential to market participants in the point-of-care molecular diagnostics sector. This is due to low regulatory hurdles, advancements in healthcare infrastructure, a growing patient population, an increase in the prevalence of infectious diseases, and rising healthcare expenditures. In addition, the regulatory policies are more adaptable and business-friendly than those of developed nations.

Notable developments are:
Pharmacogenomics, a new platform that combines pharmacology (the science of drugs) and genomics (the study of genes and their functions) to build safe, efficient and effective medicines and doses that will be customized to an individual’s genetic makeup. It helps in predicting whether a medication will be effective for a specific person and how many doses should be carried out to benefit the patient. Understanding disease processes, genetic variants, and resistance has greatly benefited from NGS, which has aided in the creation of improved diagnostics, treatments, and breeds. It identifies abnormalities across the entire genome, as well as deletions, insertions, substitutions, duplications, and copy number alterations (gene and exon). At-home diagnostic test kits have become popular with both the population and infectious diseases are growing.

Given that cancer is one of the leading causes of mortality worldwide, early identification and diagnosis are essential for improving patient outcomes. Significant progress in molecular biology over the past few decades has produced new biomarkers that can help with cancer detection and diagnosis. These biomarkers are currently being utilized to transform the way cancer is treated, allowing for an earlier and more precise diagnosis as well as the creation of individualized treatment regimens. The PSA (prostate-specific antigen) test, which is used to track the development of prostate cancer, is one of the most popular molecular biomarkers for cancer. The HER2/neu gene is a powerful biomarker for treating disease and is overexpressed in some forms of breast cancer. Recent developments in molecular biology have resulted in the identification of numerous new cancer biomarkers, including those connected to epigenetic modifications, gene expression, and circulating tumor cells. The study of epigenetic alterations is another field of research in molecular biomarkers for cancer. Another promising field of research in molecular biomarkers for cancer is gene expression profiling.

The study of molecular biomarkers for cancer is developing quickly, and more and more novel biomarkers are being found and created. The use of these biomarkers has the potential to revolutionize cancer diagnosis and therapy, enabling earlier and more precise cancer detection as well as the creation of efficient therapies.

Many businesses are updating their products in the molecular diagnostics industry in India in order to produce results that are precise and accurate. Companies are working on a new set of molecular diagnostic methods for the identification of tumors, including transcription-mediated amplification (TMA) and loop-mediated isothermal amplification (LAMP). The market is also projected to rise as a result of the expanding usage of multiplex PCR technologies and real-time PCR apparatus.

The careful selection and combination of different molecular diagnostic technologies according to a user’s needs can provide a timely and accurate diagnosis of disease pathogens and facilitate precision treatment, to effectively control diseases.

In conclusion, molecular diagnostic has expanded in a major way in recent times. With advancements in the field of cancer diagnostics, infectious diseases, it has given a free hand to physicians to not only assess disease predisposition but also to design and implement accurate diagnostic methods and to give therapeutic treatments individually to patients.

Further research in molecular diagnostics biomarkers will yield even more breakthroughs in the future. It is crucial that healthcare providers stay up to date with the latest advancements in this field and integrate these tools into their clinical practice.