Can Start-Ups Significantly Lower the Cost of Gene Sequencing?

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But now, “Illumina has a bunch of patents, and they are about to expire,” said Dr. Gelb. “Others are ready to move in.” Ultima has raised a reported $600 million in funding since 2015.

At the Advances in Genome Biology and Technology conference last June, more than a dozen sequencing and instrumentation technologies were announced, said Leisa Zigman, president of the Genome Partnership. Two sequencing companies that contended with Ultima for attention were Singular Genomics and Element Biosciences, whose sequencers are in the $300,000 range, and compete, they say, with units that are currently $1 million. (Ultima has not revealed pricing, although it said it has sold units.) Illumina recently announced a new line of machines that would deliver a complete sequence for $200.

As exciting as the scientific community finds this, it remains to be seen how the newest sequencers will perform with so few of them sold. “The $100, $1000 or $10 genome makes a great headline,” acknowledged Molly He, founder of Element Biosciences, “but what counts is what is actionable, what can be applied at the bedside.”

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Ultima has faced some skepticism because of a known issue sequencing homopolymers, which are consecutive identical bits of genetic material. “Every system has different gaps,” Dr. Almogy said. The 11 customers who have purchased or placed an order, he claimed, are “fully aware” of the issue and deem it unimportant to them.

Some practitioners are not so sanguine. “Is this ready to go?” Dr. Gelb said. “The answer most people have is, ‘We aren’t sure.’” Gaps or errors in sequencing could lead to results that aren’t sufficiently clinically accurate.

Another reason for skepticism: $100 sequences have been promised before — MGI Tech Co., Ltd., a genetics company based in China, did so at the A.G.B.T. conference in 2020 — but have yet to materialize.

Critiques aside, scientists foresee a combination of new technology and new competition further driving down the cost of sequencing an entire genome. And many see a major transformation in research and medicine as a result.



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