Molecular diagnostics – Trends and future
The necessity of ordering of a diagnostic test by a physician must be determined by its importance in judgement of disease management. Ordering of diagnostic laboratory tests by clinicians are at an average of 29.2 percent of their patients. Uncertainty of ordering tests was reported in 13.4 percent of patients, and uncertainty in interpreting results in 7.6 percent of these diagnostic encounters. Considering that 70 percent of all medical decisions are influenced by lab tests, quality in diagnostics is the need of the hour.
Molecular diagnostics, fundamentally the analysis of DNA and RNA at the molecular level, is a thriving opportunity, made possible by the growing understanding of the human genome, which has driven growth in the diagnostics industry.
In just the last two decades, clinical laboratory medicine has been transformed by adopting the diversified use in molecular diagnostics. Novel platforms have become the basis for molecular tests, including polymerase chain reaction (PCR) and real-time quantitative PCR, as well as high-throughput sequencing.
The molecular diagnostic industry will continue to grow at a double-digit pace to achieve the challenging increase in demand. It is expanding far beyond the realm of identification of infections to becoming an integral part of therapy and management of disease. Molecular technologies, such as those for tuberculosis and other infectious diseases, have helped drastically reduce hospital admission time.
A progressively more educated public is demanding more information about predisposition for serious diseases, and how these potential illnesses can be detected at an early stage when they can be cured with new customized therapies for their individual clinical status. Generally, molecular diagnostic deals in infectious diseases but there are increasing numbers in other areas, particularly oncology, hemato-oncology autoimmune, genetic or hereditary disorders, pre-natal screening, and the like. Newly discovered diagnostic biomarkers increase the capability to optimize the clinical decision for individuals.
Molecular diagnostics has grown as an industry, with major developments in technology adoption and instrumentation. Bearing in mind the increased demand for molecular-based assays, the major industry players have tightened their laces to meet the requirements.
Physician awareness, understanding of the newer technologies, and their improved efficiency in diagnosis of disease are crucial in bringing about a mass change in patient management. Industries and government health authorities are today conducting such trainings and awareness programs to educate the physicians and the healthcare workers alike.
A new field of medicine, theranostics, combines specific targeted therapy based on specific targeted diagnostics tests. Its main area of focus is patient-centered care and its concept is possibly set to transition the age-old system of medicine toward one that is more contemporary, personalized, and precision-medicine approach.
The word molecular diagnostic itself gives a feel of a big sophisticated laboratory setup, and it indeed is. In the last few years, manufacturers have been aggressively funding their R&D to motivate them to shift toward developing comprehensive automation and point-of-care setups. Industries, such as Roche, Cepheid, Thermoscientific, amongst others, are focusing on developing compact devices, which will curtail the interactive time of sampling. Scientists are working on chip methods, which will help achieve simultaneous nucleic acid extraction, selection of size, as well as demonstrate capability with high throughput sequencing. For users, result interpretation and data management by the software will remain the cornerstone in creating a networked system, which will connect the equipment and gadgets to increase the accessibility from remote areas.
As the realm of healthcare changes, the clinical laboratory plays a very important role in changing along with it. While the current conventional, transactional lab model will continue to be at the foundation, the fast-emerging Clinical Lab 2.0 model is the future.
