NEXT-GENERATION SEQUENCING
Dhruv Jain
The Hong Kong University of Science and Technology
dj.jaindhruv@gmail.com
Massive parallel sequencing or next-generation sequencing is a revolutionary technology that has
made it possible for us to sequence a whole human genome in a single day. The key principle
behind NGS technology that makes it so revolutionary is that the sequencing of millions of DNA
fragments is done in parallel unlike Sanger sequencing techniques. Bioinformatics analyses are
used to piece together these fragments by mapping the individual reads to the human reference
genome.
While the global market for NGS is still in its introductory phase marking a $7.81 billion market
output, it is expected to have a $24.4 billion market at a 20.9% CAGR by 2025. While the
technology is still limited, the future seems very bright since NGS offers the world a whole new
window into the advent of personalised medicine. In addition, a Whole Genome Sequence can
give you loads of information about risks, traits and tendencies that can change the lives of people
Whole genome sequencing, an extremely innovative application of Next-Generation Sequencing
technology allows us to sequence an entire genome from a swab or a drop of blood within a day.
That is revolutionary and very chronologically effective.
Whole genome sequencing involves sequencing an organism’s entire genome including noncoding regions and epigenetic modifications which uncover a lot of information. Advanced
bioinformatics tools and technology are needed to make this information humanly understandable
with the help of supercomputing codes.
As of today, Sanger Sequencing is still the most commonly used technique and dominates the
sequencing market in research and in commercial biotechnology. However, disruptive innovation
has made NGS a lot cheaper than earlier and hence a lot more accessible to the world. Some
benefits NGS provides over existing technology:
1. NGS captures a wider array of mutations in your genome than other sequencing
technology.
2. NGS allows the detection of mosaic mutations- Mosaic mutations are ones that are spread
across the genome with variable frequency. NGS provides the sensitivity and detail to
detect them giving a massive boost especially in cancer diagnostics.
3. NGS gives a lot more depth in terms of risk analysis based on inherited genes and
mutational occurrences.
While NGS boasts of many advantages, the biggest limitation is the requirements of tech heavy
infrastructure which is costly and require lot of capital, human and land investments.
However, the future of NGS looks very bright especially in the growing Asia-Pacific market
segment where numerous start-ups are competing with the big diagnostic and pharma players to
provide this ground-breaking technology to the consumer. NGS offers personalised medicine a
whole new outlook, it will help patients get the right treatment at the right time which can be
instrumental especially with cancer therapy. A genome analysis can tell a patient what kind of
treatment/therapy would be best suited for his physiology which is greatly beneficial since sideeffects outweigh benefits many times.
It took scientists 15 years to complete the human genome project. Today, we can do an even better
job in half-a-day, it’s a great time to be in the field of biotechnology. Innovation is the key to
progress and constant progress has just marked the beginning of the biotechnology revolution.
Reference (Jul-20-A3)
