Molecular Diagnostics, Molecular Pathology, And Genomic Medicine- What’s In The Name?
Almost two decades back, these terms were unknown in the medical world, and in fact, would have sounded at best incomprehensible, to most practitioners. The term molecular diagnostics (MDx) refers to laboratory tests used to screen or diagnose an infection or disease, or the predisposition to a disease, by analyzing nucleic acids (i.e. DNA or RNA). MDx testing has moved to the forefront of present-day clinical practice and is widely used in almost all important areas of healthcare including infectious diseases, oncology, neurology, cardiology, metabolic disorders, etc. MDx has applications in every section of the clinical laboratory. Its advantages stem from its extreme specificity and sensitivity, as well as its rapidity in providing results. Today, innovative MDx has become essential for early screening, accurate diagnosis, precise disease management, and treatment monitoring. As a result of newfound applications of MDx technologies, there is an expected gradual shift from reactive to proactive and to predictive care.
MDx trending technologies
MDx is empowered by continual advancements in technology. The progress in this specialty has been so explosive that there has been an almost 400 percent growth in the last 25 years in MDx research, translating to an almost 750 percent growth in patent applications over this period. MDx testing has undergone dramatic changes since its debut in the late twentieth century. Initially restricted to simple assays interrogating single to a few genomic targets using traditional PCR technology, advancements such as real-time PCR, quantitative PCR, and automation in the form of sample-to-result instrumentation have expanded diagnostic horizons for infectious diseases. With these technologies physicians can now detect and treat infectious diseases sooner and with more precision. Multiplexing technologies have expanded the capability to interrogate single specimens for the presence of multiple pathogens associated with various clinical syndromes. The technological innovations over 10 years have seen, at last, the long-promised marriage of molecular biology with clinical medicine, with a consequent explosion in molecular test volume and range, and broad awareness of their existence among both physicians and the lay public.
Evolving influence on the healthcare spectrum
The global MDx market has been estimated at around USD 7000 million in 2017. It is expected to register a CAGR of approximately 9 percent from 2018 to 2023. Asia-Pacific is estimated to register approximately 15 percent CAGR. India ranks third after Japan and China. While infectious diseases segment continues to account for the largest share of the global market, molecular oncology has emerged as a significant rapidly growing market segment. Over last 4-5 years advanced genomics segment has undergone tremendous transformation, catalyzed by the clinical implementation of disruptive next generation sequencing (NGS) technology. Globally with clinical implementation of NGS in genetic disorders and preventive disease segment more than 26,000 genetic tests are available for over 3600 genes. Personalized genomic medicine undoubtedly has become one of the hottest areas in the global healthcare sector. Once esoteric, these tests have earned their place in routine medical practice and have expanded to all levels of healthcare—from the pathology lab to the doctor’s office and clinics of developing countries including India.
MDX future prospects
A market that just keeps on growing, MDx is positioned to directly benefit from the explosion in genomics knowledge. MDx is expected to expand its critical role in identifying disease risk, diagnosing complex disorders, and selecting appropriate treatment. The future is likely to see the establishment of new disease/gene associations, widespread use of personalized therapy, and the introduction of predictive tests. Looking at the clinical realm of infectious diseases, antibiotic resistance is a major aspect that will have a long-term impact in the MDx space. In the context of Indian settings, flexibility and smart testing will play a major role in the coming years. There is an enduring need to push the frontiers of MDx with development of microfluidics in cloud-connected PoC devices which are low-cost and user-friendly.
