“Genetic disorders can’t be cured no matter what you do!”– A statement you might be tired of hearing, which may soon be untrue. Yes, you read that right!
There is a potential to find the cure for genetic disorders with Genome Sequencing. A process that gives an understanding of genes, helping scientists to identify cures for many untreatable diseases and enhancing the diagnostic processes. Recently, genome sequencing helped in developing the vaccine against the deadly COVID.
Another good news? Genome sequencing is now getting faster and cheaper. About 10 years back, the process would cost $10,000 per person and took years to get done. The last human genome project cost was $2.7 billion. Surprisingly Illumina, a global genomic company, has unveiled its new machine, the NovaSeq X Series, that’s faster and cheaper.
Let’s know more about it.
Illumina and its NovaSeq X series
Illumina is the world’s largest genomic company controlling 80% of the global DNA sequencing market. Based in the US, it was started in 1998 by David R. Walt, John Stuelpnagel, Larry Bock, and Satnam Alag. The company aims to make revolutionary changes in analysing genetic variation and function.
At an industry event in San Diego, Illumina unveiled its fastest and most cost-efficient sequencing machines yet, the NovaSeq X series that can crack human genomes twice as fast as its current models, bringing down the costs to a mere $200 per person!
NovaSeq X series: The Dream of Every Researcher
The NovaSeq X Series includes the NovaSeq 5000 and 6000 Systems and enables the study of genetic links between health and disease at an unprecedented scale, making it the most powerful sequencer Illumina has ever launched.
Designed to allow researchers access to next-gen sequencing technology, it enables them to conduct large-scale genomics projects with greater sample volumes or with more breadth and depth in the genome. A single instrument, NovaSeq X Series, has the capability to sequence three to 48 human whole genomes per run, which earlier required 30 machines.
This will open new horizons for more highly powered experiments at the depth required to discover rare genetic variants. It will also open up new markets for a wide range of applications, from ultra-deep sequencing of matched tumour-normal pairs to large-scale variant discovery studies associated with complex diseases and low-pass sequencing of seed banks to select for specific traits.
With this, researchers will have the flexibility to perform sequencing applications requiring different levels of output by simultaneously running one or two flow cells up to four different flow cell types.
What are the benefits of sequencing your genomes?
The human genome is the blueprint for life. It contains all the genetic information needed to build and maintain the body, including proteins, carbohydrates, fats, vitamins and other compounds that affect an individual’s health.
Genome sequencing can be useful in determining mutations occurring in a particular cell or at a certain stage of development, allowing a better understanding of diseases such as cancer or diabetes. Knowing about these mutations can help doctors to prevent them from occurring in their patients.
If it’s so beneficial, why isn’t everybody getting genome sequencing done?
Higher costs
Even though genome sequencing has been a breakthrough in biology, its cost can range from tens to hundreds of thousands of dollars, depending on the sample size and the technology used.
The cost of insurance coverage and sending samples to a lab for testing are additional costs, alongside the time taken to return the sequenced results.
While several startups have started moving into this space, like Thermo Fisher Scientific, Agilent Technologies, QIAGEN, BGI Genomics, etc., and with Illumina’s NovaSeq X series, we are about to witness an era of cheaper and faster genome sequencing.
“As we look to the next decade, we believe we’re entering the era of genomic medicine going mainstream. To do that requires the next generation of sequencers. We need price points to keep coming down to make genomic medicine and genomic tests available much more broadly.”
– Francis deSouza, CEO, Illumina.
No access
Genome sequencing is still an untapped space. It is estimated that less than 1% of the world’s population has access to genome sequencing, and many people do not have access to a healthcare system that provides genome sequencing for patients. As a result, more than half of the global population doesn’t know what their genome looks like.
Future of Genome Sequencing
Genome sequencing is indisputably the future of medicine development, as the development of the COVID vaccine was nearly impossible without it. However, the biggest challenge faced by genome sequencing is the lack of resources and the use of chemicals for sequencing DNA fragments.
Certain regions of DNA have the same sequence of bases repeated dozens or even hundreds of times, troubling researchers and leading to gaps in those parts of the human genome. As a result, when the Human Genome Project was declared complete in 2003, it could map only 92% of genetic material. The remaining 8% has been a mystery for nearly two decades owing to technological limitations. With the modern enhancement of technology, we can assume that researchers and scientists can discover the remaining material.
For now, we know that genome sequencing will become an essential tool in medicine and science in the future. It will help us understand how to prevent diseases like cancer, diabetes and other chronic diseases and also help us find cures for genetic disorders.
What do you think? Let us know in the comments.
