This technique is capable of offering powerful insights to know diseases as well as lead to new diagnostic and therapeutic interventions, writes Dr VL Ramprasad, CEO, MedGenome Labs Ltd.

As the nation heaves a sigh of relief from Covid-19 infection cases going down, there are many lessons and learnings, the global pandemic is leaving us with. In the hindsight, the world-altering coronavirus behind the Covid-19 pandemic was found to be just 60 nano metres to 120 nano meters in size. In that extreme situation of fear and despair, genome sequencing not only helped the scientific community across the world better understand the nature of the virus but also helped researchers arrive at targeted interventions and vaccines which are being leveraged today to fight the virus.

Genome sequencing could be an effective tool in our fight against future pandemics in addition to complex and infectious diseases like Cancer and MDR TB. The technique involves mapping the complete set, or part of an individual’s DNA code. Being able to detect unwanted changes in DNA not only provides powerful insight to understand the disease but can also lead to new diagnostic and therapeutic interventions. The information available further helps to customize the treatment basis of the individual’s genetic make-up, and that is what is referred to as precision medicine.

The first human genome sequence was finished in 2003, took 13 years to complete, and cost billions of dollars. Today due to biotech and computational advancements, sequencing a person’s genome is much easier, quicker, and affordable. For instance, Next-Generation Sequencing (NGS) technology allows for the rapid and accurate sequencing of many genes at once. It helps to identify and analyze the genetic variants based on which clinical recommendations can be made for informed treatment decisions.

This enhanced ability to receive more granular, high-quality clinical information provides us with the ability to improve clinical health outcomes by leveraging the power of computational modelling and artificial intelligence. In the coming few years, this will also enable discovery of new therapies and novel markers which will empower clinicians to more precisely manage risk for individuals and populations. This form of precision medicine and predictive modelling will likely occur across the disease timeline, potentially even before birth.

Over the years, genomics has played a vital role in redefining the diagnostic sector with its large scale offering in the multiple portfolios which include Oncology, Prenatal health, Pediatrics, Inherited Disorders, Infectious disease and many more.

The insights that genetic/molecular testing provides help in accurate diagnosis, prognostication, targeted treatment, treatment and relapsed monitoring as well as hereditary risk assessment for multiple diseases. Genome medicine also helps in determining the risk scores for various possible health concerns whether it is coronary artery disease or cancer. These scores are just not one time shot but are stable throughout one’s life. Clinical risk scores can be ascertained further by clinicians to make an informed decision regarding the treatment.

Precision Medicine is an integral part of the diagnostics ecosystem today, with its ‘precision’ approach to medicine in which molecular and cellular markers help tailor patient management to everyone is its biggest plus point. Aided by innovation in technology, it has helped us to map out a detailed picture of molecular and cellular alterations associated with several critical diseases which showcases the variations among patients. Having said that, with global collaboration, support, and education, healthcare systems can further the power of precision medicine into routine care for patients.

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