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Sequencing and Drug Discovery: How Does Illumina’s New $1000 Human Genome Affect Drug Discovery?

Illumina recently announced the $1000 solution for the sequencing of the human genome in the form of its new instrument, the HiSeqX. This system can process 20,000 genomes per year at the cost of $1000 each. This is definitely an improvement to the decoding of the first human genome sequence, which cost about $500 million and wasn’t completed until 2003, taking approximately 2 decades from the proposal of the idea in 1984.1 Since then, technology has drastically improved, and while there may not be the demand for personalized human genome sequencing yet, the technology is already available in the form of Illumina’s new HiSeqX instrument. This explosion of genomic sequencing data can potentially lead to efficient and effective future drug discovery.

Image courtesy of Genetic Engineering & Biotechnology News2

There are many different ways of gathering genomic sequencing data, whether through RNA sequencing or ChIP sequencing, and all of these ways inform scientists more about the regulation of various genes. Because of this drastic decrease in cost and the improvement in technology to really increase the speed of sequencing and the subsequent analysis, scientists are able to gain a deeper understanding of genetic disruptions that can cause a disease. With the increased amount and quality of data known on these genetic mutations, researchers can detect previously missed mutations, allowing for new potential drug targets. In fact, The Cancer Genome Atlas’ study on glioblastoma, a brain tumor, revealed that previously unknown to be glioblastoma-related genes, IDH1 and SYNE1, are in fact commonly altered genes for this particular type of tumor. This discovery spurred new research into looking at both IDH1 and SYNE1 as new drug targets, since they were both overlooked prior to the availability of such sequencing data.3

With this increasing amount of data available to researchers due to the advances in sequencing technology such as Illumina’s new instrument, drug discovery can be targeted to specifically to genetic mutations of a particular cancer. Designing drugs can become more customizable, and this directed research can increase the efficacy of the drug discovery pipeline. With the countless diseases that still do not have effective drug treatments yet, start up companies can tap the potential sequencing data and begin to find new targets. In fact, Scientist has a number of vendors that can provide the technology and analysis of various types of sequencing, whether it is whole genome sequencing, RNA sequencing, or ChIP sequencing. Having this technology readily available will allow biotech companies to tap into previously unknown research and find new potential drug targets.

So how does Illumina’s new $1000 human genome affect drug discovery? With the countless opportunities and the data just waiting to be analyzed, we can only wait and see whether this will usher in a new growth in the drug discovery industry. Perhaps it will head towards personalized medicine, or perhaps rare diseases will have a better chance. The possibilities are countless with this new technology!

  1. Nicholas Wade. “The Quest for the $1000 Human Genome.” The New York Times Online.