The introduction of NovaSeq marks one of the most important inflection points of innovation in Illumina’s history. In the same way that HiSeq X enabled the $1,000 genome with the HiSeq® architecture first announced in 2010, we believe that future systems derived from the NovaSeq architecture we are launching today one day will enable the $100 genome and propel discoveries that will enable a deeper understanding and better treatments for complex disease,” said Francis deSouza, President and CEO of Illumina. “The NovaSeq Systems enable the study of genetic links between health and disease at an unprecedented scale by making it possible to sequence more samples at greater depth and take on projects that would otherwise be cost-prohibitive. By accelerating the trajectory of genomics with these systems, Illumina is making it possible to envision a future in which all people can benefit from precision medicine.”

The NovaSeq Series includes the NovaSeq 5000 and 6000 Systems. These instruments offer ease of use features similar to those found in Illumina’s desktop sequencing portfolio, including automated onboard cluster generation, cartridge-based reagents, and streamlined workflows. With scalable throughput, users will have the flexibility to perform sequencing applications requiring different levels of output by simultaneously running one or two flow cells from up to four different flow cell types.

The NovaSeq 5000 and 6000 Systems are priced at $850,000 and $985,000 respectively. Compared with other Illumina sequencing systems, both have lower per sample consumable costs for most sequencing applications. They provide laboratories that cannot afford the capital cost of a HiSeq X Five or HiSeq X Ten System with a roadmap to completing human whole-genome sequencing projects at a cost of $1,000 per genome.

Eoin Treacy's view

It will be a few years before we have a $100 genome sequencer but the announcement that it is a possible iteration of the new architecture is a major development. 

Falling from $100 million in 2001 to $1000 last year and $100 within the next few years represents an exponential decline which will have ground breaking repercussions for the genetics industry. 

Perhaps even more important is that there is nothing magical about $100. Why not $10 or even $1 within the decade? The most likely scenario is sequencing will be free because companies will want to use the data to sell us derivative products. 

The speed with which genetic research is leaping forward, enabled by sequencing, editing methods like CRISPR and big data, represents a paradigm shift for the healthcare sector. 

The Nasdaq Biotechnology Index rallied impressively between 2010 and 2015 and pulled back sharply in the sector’s first large corrective phase in what continues to represent a secular bull market overall. The Index remains in a rangebound environment and a sustained move above 300 will be required to signal a return to medium-term demand dominance.