Next-generation sequencing rapidly changing the clinical landscape in India

Genomics is enabling clinicians to detect and diagnose diseases earlier, opening new, more effective treatment options for patients.

Genomics is the study of an individual’s entire genetic makeup, also known as the genome. Until recently, scientists and clinicians were only able to test for one gene at a time. However, with more advancements in genomic technology, and the cost of genomic sequencing falling rapidly, all our genes can now be tested at the same time in a process known as whole-genome sequencing. Genomic technologies, such as next-generation sequencing (NGS) have revolutionized the way we detect, diagnose, and treat diseases.

It has been more than 50 years since the beginning of gene manipulation and today, genetics and genomics are rapidly expanding to every area of human health. This includes disease states in physical and mental health, as well as climate change and its resulting issues, like food security and conservation.

Previously the medicine industry focused on understanding the biological functions and structural properties of drugs and their targets. Today, genomics-based therapies are 15 percent of the emerging drug pipeline. It took 13 years and nearly 3 billion dollars to map the first human whole genome; now with NGS, you can sequence and analyze a whole human genome in a single day for a few hundred dollars.

This rapid advancement in technology has had a rapid impact on how cancer is diagnosed and treated globally. It has rapidly evolved from a traditional one-size-fits-all approach to one that is tailored for the individual. Essentially, a person’s cancer is as unique as their fingerprint. Every cancer, even those considered common in India, such as breast, mouth, and lung cancer, are in fact as unique as the person diagnosed.

One of the driving forces behind this change to precision medicine in the treatment of cancer more specifically is comprehensive genomic profiling (CGP). CGP uses next-generation sequencing to analyze a broad range of genes to detect the four genomic alterations known to drive cancer growth, as opposed to focusing cancer treatment on where it was first located in the body.

Cancer incidence in India continues to increase, with one in nine people likely to develop cancer in their lifetime and large-cohort studies show that comprehensive genomic profiling has the potential to identify relevant genetic alterations in up to 90 percent of samples, allowing greater treatment options for thousands of people.

Genomics is also transforming how genetic diseases are treated. India does not have a standard definition of rare diseases. However, the approximate number of people in India having a rare disease is estimated to be 72 to 96 million. Whole-genome sequencing now has the power to help doctors diagnose genetic diseases more quickly, sometimes in only a few days, preventing delays in treatment that often alters the course of the disease and improving the lives of patients and families.

By harnessing the power of genomics, the medical industry can usher in a new era of precision medicine, where treatment decisions are informed by the unique genetic profiles of patients. However, realizing the full potential of NGS necessitates sustained investments in research, capacity-building, and equitable access to technology, particularly in rural regions.

Ultimately, in this genome era, the goal must be to change routine clinical care by integrating genomics to improve diagnosis and provide more targeted and effective treatments for diseases. At Illumina, we are driven by our mission to improve human health by unlocking the power of the genome. We are committed to making our technology affordable and accessible, to fight disease and improve human health.

Dr Nicholas Tan has been with Illumina for more than 7 years. He is passionate about healthcare technology adoption and how it can make a difference for the better, especially in the emerging markets. He holds a Bachelor of Laws from the University of London, an MBA from the University of South Australia and a Doctor of Business Administration from the University of Canberra.