Will Lower-Cost Genomic Sequencing Machines Help Make Personalized Medicine a Reality?

AUSTIN, Texas - March 27, 2023 - PRLog -- Illumina and arch-rival BGI are racing to introduce lower-cost genomic sequencing machines – a move that could make the use of genomic sequencing in research and clinical testing laboratories more commonplace, helping to usher in the future of personalized medicine based on individual genetic tests.

Illumina Introduces A New Lower-Cost $200 Genome Sequencing Solution At Its Inaugural Illumina Genomics Forum

In September 2022,  Illumina introduced its new line of genomic sequencing machines – the NovaSeq X, NovaSeq X Plus, and the FDA-registered NovaSeq 6000 Dx – at a new event hosted in the company's hometown of San Diego.

The NovaSeq X product has created the biggest splash in the press, as Illumina claims it can deliver a full genomic sequence for as little as $200. Of course, this headline is a bit misleading – the machine alone costs $985,000, and the supporting reagents are extra, but Illumina maintains that users of the new refrigerator-sized NovaSeq X machines can achieve the average target price of $200 per genome when sequencing at large scale volumes.

According to Illumina, the NovaSeq X series is designed to handle higher volume production: the NovaSeq X Plus can sequence over 20,000 whole genomes per year, a 2.5 X throughput increase compared to earlier generation sequencers.

Among the welcome new efficiency features, Illumina says the new sequencers can use reagents that can be shipped at ambient temperatures, eliminating the extra cost and complexity of packaging chemicals in dry ice or ice packs.

While there are questions about whether most laboratories will perform enough tests to achieve the claimed $200 genome cost benchmark, these new machines do represent a significant milestone in reducing the cost of genomic sequencing.

It's worth taking a moment to recall just how dramatically prices have fallen.

As shown in the chart published by the NIH shows above, sequencing a single genome cost around $100,000,000 as recently as 2001. Over the next seven years, prices dropped in line with predictions from Moore's Law.

The big game changer came in 2007 with the commercial introduction of high-throughput next-generation sequencing (NGS) technologies, which drove the cost of sequencing far below what Moore's law would have predicted – with average prices dropping to around $1000 by 2015.

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