Dr Girish Gaur , Head , Molecular Diagnostics , Diagno Labs Pvt. Ltd. , Gurgaon

"The contribution of molecular testing to modern medicine is bound to grow enormously with nucleic acid amplification tests and sequencing-based tests being the front runners."

Over the last three decades molecular diagnostics has made significant inroads into the treatment algorithm for both infectious and noninfectious diseases and its successful inclusion has brought a paradigm shift in patient's management strategies. With the advent of microarray and next-generation sequencing (NGS) and introduction of multigene assays for prognosis and theranostics, the domain of molecular diagnostics has seen a major leap from a one gene – one disease approach to an all genes – all diseases approach.

Opportunities

Till recently, the molecular diagnostics market in India was dominated by markers for infectious and vector borne diseases. Despite all the advancement, some disruption is still required to address the critical issue of long turnaround time in such complex testing. Molecular point-of-care (POC) instruments have helped in expanding the diagnostic capabilities in various demanding settings such as hospital emergencies and community health clinics. Lucid procedures and flexibility of assays are in-built advantages of these systems and should act as a catalyst for market growth. The increase in demand for POC is compelled by the need to curb the healthcare expenditure by minimizing turnaround time. The day is not far when mobile-based, hand-held, inexpensive POC test devices will become available to aid in detection and diagnosis of mutations and in identification of infectious agents.

Today we can sequence a whole human genome in a few hours for a reagent cost that is comparable to some conventional molecular diagnostic assays. This has opened up opportunities for high-throughput platforms such as NGS and microarrays. Precision medicine is one of the promising applications of these technologies. Numerous factors such as growth in the biomarker identification, improved screening and diagnosis of various types of cancer, increasing geriatric population and associated rise in chronic disease, increase in awareness about inherited and acquired genetic health risks, and acceptance of personalized medicine and companion diagnostics are playing an important role in development of newer assays and evolution of existing molecular assays.

Challenges

Decentralization of molecular testing from specialized clinical labs to smaller laboratories has resulted in market saturation for tests available for very common diseases. Irrational slide in test costs has created a negative pressure on the market dynamics that may not be fruitful in the long run. The current need of the market is to get engaged in a healthy competition and drive growth and innovation. POC in its current form would find favor as a screening tool rather than a diagnostic test. The inherent challenges of sensitivity and specificity need to be addressed to develop it as a robust diagnostic assay.

High-throughput genomic platforms are usually costly and require significant capital investment. In order to cater to masses and achieve competitive price points, a very high test volume needs to be achieved. With the addition of newer technologies daily, it is difficult to keep pace with upcoming platforms and level and diversity of required skill sets. With the ability to interrogate large numbers of genes, much focus has now shifted toward clinical interpretation of technical results, which requires curating of terabytes of genomic data. A lot of data generated from high-throughput platforms such as NGS reveals an increased rate of variations of unknown significance and tests that are not conclusive (and therefore clinically irrelevant).

The contribution of molecular testing to modern medicine is bound to grow enormously with nucleic acid amplification tests and sequencing-based tests being the front runners. Turnaround time for results of real-time PCR assays are crucial for infectious disease testing applications hence improved sensitivity of molecular POC tests may provide a considerable solution in this sphere. Noninvasive sampling will provide additional advantage to make PCR and NGS the future methods of choice for cancer testing and prenatal screening. The current pace at which the molecular diagnostic technologies are evolving, the future of the molecular diagnostics market is bright and has innumerable opportunities to expand.


 

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