A new player in next generation sequencing, Ultima Genomics, has emerged out of stealth with a claim that could not be missed: the one-hundred-dollar genome has arrived.

This appearance was shortly preceded by a preprint posted on bioRxiv: “Cost-efficient whole genome-sequencing using novel mostly natural sequencing-by-synthesis chemistry and open fluidics platform”. This preprint introduced the technology underlying the company’s platform: the UG 100.

As described in the preprint, the new platform is a novel sequencing-by-synthesis (SBS) architecture, incorporating mostly natural sequencing chemistry and an open fluidics platform. The aim is to enable high-throughput sequencing at significantly improved cost efficiency over what is currently available.

To cut down the cost, the new architecture tackles the two consumables that dominate the cost of sequencing: the flow-cell and the sequencing reagents. The system design features three main innovative components: a) open fluidics and optics system, b) mostly natural sequencing chemistry, and c) neural network-enabled base-calling.

The flow cell is a wafer with a surface that allows binding and sequencing of billions of clonally amplified sequencing beads. Open fluidics system allows (i) dispensing of reagents from dedicated nozzles near the center of the rotating wafer to distribute reagents by centrifugal force and (ii) optical measurement of the entire wafer surface in one continuous step, like reading a CD.

Combined, these innovations enable scalable, high-throughput DNA sequencing and significantly reduce the consumable cost of sequencing down to $1/Gb in the first implementation, with potential for even lower costs in the not distant future.

Ultima’s quality compares with its competitors. But one place where they have differentiated from others is in price, $1/Gb. For comparison, Illumina’s NextSeq is $20/Gb and Element’s AVITI is $5/Gb.

Most innovation in genomics over the last 20 years is related to the dramatic reductions in the cost of generating large volumes of sequence data. The cost of human genome sequencing for the Human Genome Project is estimated to be between $500 million and $1 billion. The introduction of next generation sequencing reduced the sequencing cost of a whole human genome to under $1000. It is exciting to imagine how this new level of low-cost sequencing, the one-hundred-dollar genome, will facilitate various implementations, including the routine clinical use and precision medicine.

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