Illumina pitches $200 genomes with new line of DNA sequencers

Now, for only the cost of a few dozen cheeseburgers, you could have a fully sequenced human genome. Illumina is rolling out a new line of DNA analyzers that it says can read a person’s genetic code for a cost of about $200.

The company unveiled a new line of sequencers this week, dubbed the NovaSeq X Series, designed to parse DNA strings 2.5 times faster than previous models. Fully supplied, a single machine could generate data on more than 20,000 whole genomes per year. 

The cost of genetic sequencing has dropped significantly with the expansion of high-throughput technologies from Illumina and others over the past two decades. A single genome came with a price tag topping $100 million at the turn of the millennium, according to the NIH, before closing in on the $1,000-mark in 2015.

The new sequencers, which include the NovaSeq X and NovaSeq X Plus, rely on Illumina’s recently revamped sequencing-by-synthesis chemistry—announced earlier this year as Chemistry X, and now renamed XLEAP-SBS—which the company has described as a redevelopment of its reagents, dyes and polymerases from the ground up, with ingredients that can offer twice the speed and three times the accuracy of prior offerings. 

When processing high volumes of DNA samples, the company said costs could drop below $200 per genome, while higher-quality analyses could range around $240.

The systems also come equipped with high-resolution optics and high-density flow cells, as well as integration with Dragen data analysis—IT software that Illumina picked up through its 2018 acquisition of Edico Genome.

The refrigerator-sized NovaSeq X made its debut on stage at the inaugural Illumina Genomics Forum in San Diego, where the audience cheered one quality-of-life improvement in particular: the platform’s new reagents will allow for simplified shipping at ambient temperatures, doing away with the need for packaging with dry ice and ice packs.

Illumina said in a release this could cut down on the use of nearly 500 tons of dry ice per year, while redesigned packaging and reductions in plastic will also drop waste by 90% and allow researchers to fit more supplies in the same amount of laboratory freezer space.

The company also announced the launch of the NovaSeq 6000 Dx, a new entry in its previous line of sequencers tailored for running in vitro diagnostic tests in the clinic. Described as FDA-registered and CE-marked, the system can run clinical and research-use-only tests using an open platform for different reagents.

This past year has seen Illumina launch multiple tests of its own, including companion diagnostics that run on its systems to find specific mutations that can provide opportunities for treatment by different cancer drugs.

In addition, Illumina spotlighted its updated library prep system that aims to help sequence the 5% of the genome that remains unexplored and has posed an obstacle to Illumina’s short-read machines in the past. 

Formerly known as Infinity, the company has rechristened the technology Illumina Complete Long-Reads, designed to allow currently installed sequencers to deliver contiguous data up to 10 kilobase pairs in length.

Illumina said it plans to launch two products under that umbrella in 2023, with the first, a whole-genome assay, currently in early access. The second will include an enrichment panel that targets the tricky-to-map remaining regions of the genome.