A leap in molecular diagnostics

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.

Molecular diagnostics has emerged dramatically over the last two decades, as advanced technologies have driven this industry toward the next level of significance. Companies, which already have adopted molecular diagnostic methods, are now benefitted by increased accuracy and improved sensitivities in their tests compared to others. These new methods have greatly enhanced the discovery of many 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.

Molecular diagnostics has paved way for collaboration among many companies to add up their strengths. Through the collaboration, they intend to strengthen their hold in the molecular diagnostic market and develop an integrated clinical workflow solution and provide mass access to molecular diagnostics. Tie-ups with companies from other domains are mainly aimed at marketing of diagnostic tests. Only a handful of companies control more than two-thirds or more of the market for molecular tests. Multiple insurance providers are associated with them as payers of high-end medical tests.

The global molecular diagnostics market has reached beyond USD 6 billion in recent times. Advancements in molecular diagnostics have enabled detection of various diseases that could possibly result in severe social and economic burden. Increasing incidence and prevalence of infectious disease and cancer is expected to be a major factor for growth of the market. Molecular diagnostics also helps in providing precision medicine, due to capability of detecting specific disease. Therefore, various governments are focusing on initiatives in precision medicine, which is expected to foster growth of the molecular diagnostics market in the near future. Technological advancements in molecular diagnostics are expected to significantly drive the market as they enable greater accuracy, portability, and cost-effectiveness.

Application of biomarkers in molecular diagnostic is increasing, due to advantages of biomarkers such as aiding in early detection of specific diseases. For instance, biomarkers are used in detection of ABO hemolytic diseases in newborns, Huntington’s disease and hereditary haemochromatosis, and cystic fibrosis. Biomarkers are also used in detection of disorders related to chromosome structure such as Turner syndrome, Down syndrome, Patau syndrome, and Edwards’s syndrome. Furthermore, biomarkers also have wide application in therapeutic areas, which includes neurological diseases, metabolic disorders, immune deregulation, and oncology. Increasing research and development for identification of biomarkers have led to development of new molecular diagnostic tests, which is expected to foster growth of the molecular diagnostics market. For instance, in February 2018, FDA granted marketing authorization to Banyan Biomarkers, Inc. for the first diagnostic blood test, for traumatic brain injury, Banyan BTI. Such innovation for various disease indications is expected to drive the growth of the molecular diagnostics market in the near future.

The revenue growth of the global molecular diagnostics market has been prognosticated to be hampered by prolonged approvals required from the FDA and other regulatory authorities. This has created a dearth of sophisticated molecular diagnostics tools for clinicians to treat chronic diseases and infections. Moreover, lack of promising reimbursement policies has been projected to discourage the adoption of molecular diagnostics. However, the demand for molecular diagnostics has been prophesied to gain strength on the back of the rising prominence of personalized therapies in several developed countries. Additionally, the surging requirement of customized healthcare in developed regions could increase the demand in the coming years. The uptake of molecular diagnostics platforms in PoC settings could help expose lucrative avenues in the near future. Industry players are focusing their efforts toward developing new cost-effective, highly accurate, and easy operative molecular diagnostic products to satisfy increasing consumer demand and consolidate their market position. Strategic partnership, alliances, mergers, and acquisitions are major strategies followed by market players.

Clinical testing goes molecular
Opening a molecular lab is a complex project, demanding high-end instruments and experts to operate them. Setting up a sophisticated molecular lab is easier today because of the developments in technology. Complex tests and bulky equipment are becoming more digital and user-friendly, gradually loaded with automated functioning. It also offers monitoring and control systems to ensure quality results. It has been more challenging to demonstrate the clinical utility of tests for broad patient populations. Targeted tests will continue to be the first choice for majority of the patients. It will be more imperative than ever for clinical labs to have moldable solutions, with both targeted tests available.

A major challenge in the form of antibiotic resistance is bound to have a long-term impact on the molecular diagnostics space. There are three elements – an integrated approach of rapid testing, antimicrobial stewardship programs, and clear actions based on results – which are required to address such a public health crisis.

Molecular diagnostics is advancing to provide most laboratory tests in infections and genetics. Genome sequence databases within and between species provide the information necessary to develop sensitive and specific diagnostic assays. In fact, microorganisms are nowadays classified on the basis of sequence rather than phenotype.

Variety of products and tests
Today, companies aim to provide precision medicine with molecular testing solutions. The detection of common infectious diseases and the monitoring of treatment efficacy through specific assays and selection of individualized treatment options is now easier. Advanced products come with the capability to detect viruses, bacteria, fungi, and parasites simultaneously. Real-time PCR products are user-friendly and operate with one step. Diagnosis of molecular level offers various products like individual buffers and enzymes and sample preparation reagents. Real-time PCR kits, which allow conducting fully designed PCR assays and bio-line molecular reagents, are regularly used for a range of transmittable disease testing. Biomarkers are objectively measured characteristics or indicators to monitor certain biological or pathological processes. Biomarkers can be any substance or molecule, such as whole cells, enzymes, or hormones. These are also used to test the pharmacological responses to therapy.

Traditional culture methods are important in the detection and analysis of pathogen. Medical investigation of specific treatment sensitivities like antibiotic resistance is carried out through molecular diagnostics. Moreover, some of the companies offer high-end services and advanced tests of gene expression for detection and measurement of cancer.

Operational efficiency
The two opposite trends of centralization and decentralization are emerging simultaneously. These will continue to reshape molecular diagnostic testing. Already, some tests are taken to large reference labs from local clinical labs for the economies of scale they can offer. The tests, which need to be carried out within time constraints, move toward the point of impact and medical teams have timely results available. These movements make the most sense for patient care from healthcare and cost point of view. Doctors can get the test result more quickly when it is important, and tests that can be delayed will save the cost by large centralized labs.

Research update
Removing a snippet of tissue from the body and subjecting it to the right tests can reveal a lot about a person’s disease or disease risk. With a new tool that zeros in on individual cells in such biopsies, doctors might be able to observe glitches in gene expression with enhanced precision – information that in some cases could yield more effective treatments.

The method, called single-cell RNA sequencing, identifies genetic signatures associated with disease, using only a tiny amount of tissue. It was recently put to the test in patients with lupus, an autoimmune disease that inflames and damages the kidney, among other tissues. Focusing on kidney cells, the researchers found that single-cell RNA sequencing exposed changes in two sets of genes involved in the autoimmune response and in scarring, respectively. Both could inform how far the disease has progressed and what drugs are most likely to work – information not readily available from standard tests. The team, headed by Rockefeller’s Thomas Tuschl, along with scientists at Albert Einstein College of Medicine, Montefiore Health System, obtained similar results by analyzing skin cells from lupus patients – opening up the possibility that kidney biopsies, which can be painful, might one day be avoided.

The 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 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 diseases are giving the laboratories a key role in the emerging field of personalized medicine. Molecular diagnostics capability is set to become a game changer for clinical laboratories