Molecular diagnostics has emerged as one of the largest and fastest growing segment in the IVD industry. It is the most dynamic and transformative area of diagnostics, leading to advances in research and treatment that are revolutionizing healthcare across a wide range of diseases and health conditions and has been driven by accuracy, high sensitivity, fast turnaround time, easy workflow, and cost-effective testing.

It was apparent in the late 1980s to several visionaries in academic pathology that the tools of molecular biology would notably change the practice of laboratory medicine. Sixty years ago, the discovery of the double helical nature of DNA had only been in the scientific literature for a year. Forty years ago, although the experts knew how to purify DNA, the first tools of molecular biology (e.g., restriction endonucleases) were being used, but the mainstays of molecular pathology investigation (e.g., southern blotting, nucleic acid amplification, and sequencing) had not yet been developed. Twenty years ago, the evolution from conventional to real-time PCR was in its infancy, and the herculean effort of sequencing the human genome was less than half done.

Today, molecular pathologists are once again at the forefront of the evolution of laboratory medicine investigation as we move from amplification-based assays for detection of single analytes and static array-based assays for low-, medium-, and high-density panels to the ultimate laboratory test - the newest iteration of DNA sequencing. Alternatively called next-generation sequencing and massively parallel shotgun sequencing, it seems clear that the adjective next generation will have to change. Sequencing today is the harbinger of the ultimate laboratory test. Many or most, perhaps even all, molecular pathology questions, whether diagnostic, prognostic, therapeutic, or for monitoring, have their answers locked in the genome or exome, and next-generation DNA sequencing is the key to those answers. Technology is already being applied clinically hundreds of thousands of times annually for noninvasive detection in pregnant women of fetal aneuploidy or euploidy and, at lesser frequency, in oncology and cardiology workups. DNA sequencing, the ultimate genomic laboratory tool, will be as ubiquitous in 20 years as the microscope has been for anatomical pathology, hematology-oncology, and microbiology; indeed, DNA sequencing is the genomic equivalent of the microscope.

Global Market

The global molecular diagnostics market is poised to reach USD 9.3 billion by 2020 from USD 5.9 billion in 2015, at a CAGR of 9.3 percent from 2015 to 2020, predicts Markets and Markets.

Molecular diagnostic tests detect specific sequences in DNA or RNA that may or may not be associated with disease, including single nucleotide polymorphism (SNP), deletions, rearrangements, insertions, and others. Clinical applications can be found in at least six general areas - infectious diseases; oncology; pharmacogenomics; genetic disease screening; human leukocyte antigen typing; and coagulation.

In terms of technology, PCR is identified to be the largest segment, accounting for 46 percent of the market. This share is expected to decline in the coming years with other technologies as in situ hybridization and genetic sequencing seeing traction.

The molecular diagnostics market, by application, may be classified into infectious diseases, oncology, genetics, blood screening, microbiology, and others. Sexually transmitted diseases (STDs) dominated the overall molecular diagnostics market size in 2015, by infectious diseases, with revenue close to USD 1 billion, followed by HIV. HIV and STD demonstrate maximum penetration due to increasing occurrence and ease of diagnosis. HPV disease market is expected to witness the highest growth with 
9.8 percent CAGR. The market is predicted to expand if preventive care is not exercised in developing and under-developed nations.

On the basis of products and services, the molecular diagnostics market may be segmented into instruments, reagents, and services and software. The reagents segment accounted for the largest share and highest CAGR of the molecular diagnostics market in 2015.

Based on end users, the market may be sub-segmented into hospital and academic laboratories, reference laboratories, and others (blood banks, local public health laboratories, home health agencies, nursing homes, point-of-care (POC) settings, and self-testing). As most diagnostic tests are carried out in-house, the hospital and academic laboratories segment dominates the market. On the other hand, newly launched, complex, and highly specialized tests are mostly offered only at a few large reference laboratories, owing to which the reference laboratories segment is expected to witness the highest growth rate over the next five years,

In India and China, the molecular diagnostics market trend and outlook are significantly positive, with strong investment indicators for improving healthcare infrastructure along with implementation of policies promoting preventive healthcare treatments that facilitate higher diagnostic testing.

Global molecular diagnostics market share was led by Roche Diagnostics, Abbott Laboratories, and Danaher Corporation, collectively with a combined share of around 48 percent in 2015. The market is also marked by the presence of other active players such as Siemens Healthcare, BD, Qiagen, Bayer Healthcare, Novarits, and Dako among others.

The market has transformed from being labor intensive to the inclusion of latest technologies. Majority of the reagents sales have historically been attributed to the diagnosis of infectious diseases such as tuberculosis, gonorrhea, chlamydia, and influenza virus, as well as the identification and predisposition to several conditions such as cancer and cystic fibrosis. The increasing use of molecular diagnostic technologies in research and development coupled with rising demand for POC and OTC and self-test products are expected to drive market growth. New technology has enabled instruments to offer fast and accurate test results. This ability of the diagnostic tool has resulted in a rapid rise in penetration levels, especially in the POC facilities. Molecular diagnostics has also given rise to the concept of personalized medicine.

Growth Drivers

Technological advancements are coming hard and fast in the molecular diagnostics market. The integration of diagnostic methods with advanced IT and data analytics is minimizing the complexity of assays and further analysis, and the use of nanotechnology for developing molecular diagnostic products will help increase the efficiency of diagnostic methods and results.

Increasingly sophisticated research into nucleic acid expression, proteomics, and gene sequencing has led to the development of biomarkers - hormones, genes, proteins, and other molecular entities that detect the presence or absence of diseases based on their pharmacological or physiological processes. These biomarkers can be used to recognize individuals who are at a higher threat of developing disease; predict the clinical response and outcome of the disease; elucidate the biological pathways affected by the disease; identify people who are most likely to respond to specific therapeutic interventions; and determine patients who will develop side effects to treatment.

Some Challenges

Ethical, privacy, and practical issues. Patients are getting more and more protective of their personal information, and genetic testing has taken this to a whole new level - there is a general fear that information provided for research purposes could end up in the hands of commercial entities.

This brings up questions surrounding the ethical use of a person's genetic information: Can it be used for further drug development, and how much access should a patient have to their own information?

These are some of the questions that governments and regulatory bodies are seeking to answer, but these concerns could be a big hurdle for market growth over the next few years.

Lack of skilled technicians. It is often said that in medicine, expertise and new technology tend to mutually exclusive concepts. Advanced molecular diagnostic methods are complex and require a thorough understanding of device mechanisms for effective use. In addition, data obtained from the system can be difficult to interpret without adequate training.

While there are definitely experts operating in the field, the use of this technology in certain field is still relatively new, meaning that a lot of medical professionals just do not have the technical expertise. But as molecular diagnostics takes a more permanent place, more and more doctors will be equipped with proper training to provide care, which will ultimately result in market growth.

Factors like increase in awareness and acceptance of personalized medicine, advancements in molecular techniques, and increasing investments in proteomics and genomics research will spur the molecular diagnostics market in the future. New technologies are making it possible to gather more information to more fully characterize the disease state, the best treatment alternatives for a patient, or in the case of infectious disease, rapidly identify a specific pathogen out of many that could be responsible for a particular infection. Overall, the molecular diagnostics industry is growing on the path of continuous innovation and changing technological base and this is creating new opportunities and applications.

Dr K Iravathy Goud, HOD-Molecular Biology and Cytogenetics, Apollo Hospitals, Hyderabad
Second Opinion
Future Outlook

Molecular diagnostic techniques such as fluorescence in situ hybridization (FISH) as well as array-based technology have taken cytogenetics to an entirely new level in molecular diagnostics. FISH is characterized by its uniqueness in enabling researchers to visualize, and interpret the genome at the level of chromosome and the DNA. FISH provides a technological edge over other molecular techniques developed in recent years with its ability to enable the study of cells in interphase stage of the cell cycle. Particularly in the field of pathology, FISH could be used to improvise on the cytopathological as well as histopathological techniques presently in use. As such, FISH, along with other molecular techniques, characterized by speed, sensitivity, specificity, and flexibility has made its way into a number of cytogenetic and pathological laboratories.

Array-based technology represents the fastest growth driver in the molecular cytogenetics market. Microarray-based comparative genomic hybridization (aCGH) is gradually evolving as the most preferred molecular cytogenetics tool among researchers. Accuracy, robustness, and rapid outcomes represent the benefits of aCGH over other karyotying techniques, such as FISH and polymerase chain reaction (PCR), and are likely to drive its adoption or recommendation as first-line diagnosis of disorders resulting from chromosomal anomalies in future. Increasing number of users presently make use of aCGH as a primary screening technique, followed by confirmation with FISH. What makes aCGH advantageous over FISH is its ability to detect several genome sequences simultaneously, unlike FISH. As such, the market is likely to witness a transition from FISH to aCGH in the following years, fuelled by further technological advancements in array-based technology. Technologies competing with aCGH include multiplex assay platforms, and next-generation sequencing (NGS) technologies are highly preferred over aCGH in few applications in genomics. Nevertheless, array-based technology represents the preferred method in the field of molecular cytogenetics, and is beneficial over other technologies in several applications in terms of cost efficiencies as well as workflow advantages.

NGS technologies have replaced traditional PCR and multiplex PCR tests for genetic testing. The continued evolution of NGS and mass spectrometry technology is being targeted at prenatal testing using circulating fetal cells in maternal blood samples. In the future, prenatal DNA testing using blood samples could conceivably replace amniocentesis testing as a first-line test for genetic disorders. Given the rapid advances in molecular testing technology, it is conceivable that in the not too distant future, all newborns could be screened with whole genome sequencing to determine their risk for developing a broad spectrum of diseases and disorders. On the technology front, NGS technologies are likely to revolutionize the molecular diagnostics field and could displace much of the conventional PCR and sequencing methods used for genetic diseases and cancer.

Dr K Iravathy Goud
HOD-Molecular Biology and Cytogenetics,
Apollo Hospitals, Hyderabad


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