Contribution of MDx to modern medicine is not finished yet

It is expected to maintain its dominance in upcoming years owing to its wide adoption in research and clinical settings. Standardized results, improved efficiency, and cost-effectiveness are anticipated to support the market growth.

Growing demand for reliable early-stage diagnosis of chronic ailments is likely to add impetus to molecular diagnostics (MDx) market growth in coming years. This growth is largely characterized by prolific technological advancements and the subsequent development of sophisticated molecular diagnosis techniques.

There has been a significant upsurge in R&D efforts and research studies across the world in recent years, which has contributed significantly to industry expansion. Innovative technological solutions, such as mass spectroscopy, in-situ hybridization, and PCR are integral parts of these research studies.

In addition to rising research and development efforts, the rising prevalence of infectious disease worldwide, alongside rising demand for point-of-care diagnostic solutions are some more factors that will add further impetus to molecular diagnostics industry demand over the years ahead.

The global molecular diagnostics market size was valued at USD 37.04 billion in 2021, and is expected to decline at a compound annual growth rate (CAGR) of −1.6 percent from 2022 to 2030. The shrinking of the market can be attributed to the decline in demand for molecular Covid-19 testing over the next 8 years.

However, factors such as technological advancements, rising elderly population, and increasing demand for genetic testing are boosting the growth of the market. In addition, rising demand for PoC testing can be attributed to increasing demand for self-testing diagnostics, and patient awareness about faster diagnostics.

The reagents segment accounted for the largest revenue share of the market in 2021. It is expected to maintain its dominance in upcoming years owing to its wide adoption in research and clinical settings. Standard reagents help achieve efficient and accurate results. Standardized results, improved efficiency, and cost-effectiveness are anticipated to support the market growth.

Global molecular diagnostics market outlook has witnessed several advancements over the years, owing to robust efforts from industry players to develop innovative products and achieve commendable market share. Research studies pertaining to molecular diagnostics solutions have offered a deep insight of molecular attributes to the healthcare industry, to facilitate a better understanding of human health and develop care standards for diagnosis of diseases.

The introduction of NAAT (nucleic acid amplification test) devices has given healthcare professionals access to more advanced diagnostic tools. Since these tools possess high specificity, sensitivity, and offer superior-quality results, the CDC or Centers for Disease Control and Prevention has certified NAAT as the gold standard for the diagnosis and detection of various ailments, such as influenza, malaria, and trichomonas. This in turn is likely to present lucrative growth prospects for the global market outlook in the forthcoming years.

Molecular testing on Covid-19 is paired with declines in more traditional molecular tests as patients avoided doctors, and continued to reduce in-person doctor visits during the lockdown. Down-but-not-out segments include cancer, histology, and inherited diseases, which are expected to continue to grow, perhaps surge, in coming years.

Prior to Covid-19, liquid biopsy was one of the stars of this segment. New LDT tests in inherited disease testing in particular, using IVD supplies, which includes non-invasive prenatal testing (NIPT), is driven by the demand in China. Even though the demand is for laboratory test services and not for IVD products, the demand for instruments, kits, and consumables that are approved by regulatory agencies is driving the segment. However, the market opportunities may be challenging to access by foreign IVD companies due to the regulations promoting domestic companies.

The molecular diagnostics field worldwide, up until recently, has been dominated by large firms, such as market leader, Roche, followed by Cepheid/Danaher, bioMérieux, Qiagen, Hologic, BD, Siemens, and Luminex.

While many of these companies are focused on competitive strategies (e.g., sophisticated automation for molecular testing, test menu expansion) to maintain their position, emerging competitors are also entering the market by developing next-generation technologies.

The global Covid-19 pandemic has accelerated these and other new approaches for molecular diagnostics to enter the market, through substantially reduced regulatory hurdles, with many novel technologies coming out of research laboratories. As the need for Covid-19 testing collapses to a fraction of its current demand, molecular diagnostics companies will be holding and maintaining facilities that can create immense supply. This mismatch between demand and supply will either lead to a collapse in prices of molecular diagnostic tests, as suppliers struggle to break even on their facilities maintenance costs, or a mass selloff or repurposing of these facilities.

Either way, the companies in the molecular diagnostics space will have to plan their next steps very carefully. They have made a lot of money in the boom of the Covid-19 pandemic, but they must be careful not to be saddled with large illiquid material assets for a market that is a fraction of its previous price.

Novel epidemics or pandemics may be unavoidable in the future. Further research on pathogen-differential diagnosis technologies is critical for pandemic-prevention organizations to improve testing times, give definitive diagnoses, and detect diseases distinctively with comparable clinical symptoms. 2019-nCoV, SARS-CoV, influenza virus, parainfluenza virus, adenovirus, respiratory syncytial virus, rhinovirus, mycoplasma, and chlamydia are some of the microorganisms that cause pneumonia. Because RT-PCR results are time-consuming and labor-intensive, a medium-throughput detection technology for the differentiation of 2019-nCoV and non-2019-nCoV circumstances is urgently needed. In the future, the development of high-throughput and low-cost differential diagnostic technologies will be critical.

Furthermore, the development of detection technologies and accompanying reagents that can identify dozens of diseases concurrently and quickly will be advantageous.

Research Corner
Easier, faster assay enables many more laboratories to identify Covid-19 variants. A new study has found that the Novaplex SARS-CoV-2 Variant I, II, and IV real-time PCR assays (Seegene Technology) can reliably detect SARS-CoV-2 in patient samples and identify known variants of interest and concern. Results from the PCR assays were comparable to those from the gold standard spike gene Sanger sequencing method. Researchers were also able to successfully streamline testing and reduce cost and turnaround time by processing samples without extracting RNA for testing. Their findings appear in The Journal of Molecular Diagnostics, published by Elsevier.

“Real-time PCR (RT-PCR) methodology for variant detection is accessible, rapid, simpler, and accurate compared to traditional sequencing,” said lead investigator Ping Ren, PhD, Department of Pathology, University of Texas Medical Branch, Galveston, TX, USA. “Combining an extraction-free processing method with RT-PCR technology can help laboratories without sequencing capabilities track circulating variants and investigate variant-dependent effects on treatment efficacy and disease severity.”

The I, II, and IV assays are designed to detect genetic mutations associated with the alpha, beta, delta, and epsilon variants of SARS-CoV-2.

At the time of the study, the omicron variant had not yet emerged. RNA was extracted from each sample for testing by the Novaplex RT-PCR assays and Sanger sequencing. The samples were also directly tested without extraction of RNA by the Novaplex assays.

Of the 156 samples processed with RNA extraction, the RT-PCR assays identified 109 variants. The results were 100 percent in agreement with the Sanger sequencing test. The RNA extraction-free method was 91.7 percent as sensitive as the traditional RNA extraction method. In samples with a lower viral load, the extraction-free RT-PCR assays did not detect some mutations, presumably because of lower nucleic acid concentrations in the original samples.

“A major limiting factor for molecular SARS-CoV-2 assays is the shortage of RNA extraction reagents,” explained co-lead author Marisa C. Nielsen, PhD, Department of Pathology, The University of Texas Medical Branch, Galveston, TX, USA. “Conventional extraction remains a time-consuming aspect of molecular diagnosis of SARS-CoV-2. Recent CDC guidance recommends sequencing only for cases with a cycle threshold (Ct) value lower than 28, which indicates a higher viral load, because sequencing is less reliable in samples with lower viral loads.”

“Although lower sensitivity was observed with the extraction-free method, it still represents a viable alternative,” Dr Nielsen added. “Spike sequencing is still necessary for detecting new variants.”

RT-PCR assays can be tailored to include additional representative genes as different variants emerge and allow for more accessible variant detection and monitoring to inform public health and treatment decisions. While not included in this study, assays are now available to identify omicron-specific mutations.

“Determining the SARS-CoV-2 variant in individual patient samples can help guide treatment since some variants are more resistant to current treatment regimens,” Dr Ren observed. “However, the potential impact extends beyond individual patients and into the public health realm. It is important to track variant spread as part of public health surveillance because of variant-dependent transmission, disease severity, and treatment decisions.