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Illumina Aims to Bring Genetics Out of the Lab With $200 Genome

Illumina Inc. has announced that its new sequencing machine can read a person's entire genetic code for as little as $200, bringing the company closer to its goal of the $100 genome. This new machine is a significant advancement that could revolutionize the field of genetics and help make personalized medicine a reality.

September 29, 2022
8 minutes
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Illumina Inc. has announced that its new sequencing machine can read a person's entire genetic code for as little as $200, bringing the company closer to its goal of the $100 genome. This new machine is a significant advancement that could revolutionize the field of genetics and help make personalized medicine a reality.

Illumina has unveiled a new line of DNA sequencing machines that it says are twice as fast and accurate as its earlier models. Together, those upgrades will bring the cost per genome down two-thirds from its current technology, Chief Executive Officer Francis deSouza said.

Many consumers have had their DNA analyzed through relatively low-cost tests, like those marketed by 23andMe Holding Co. These tests analyze small snippets of the genome for clues to disease risk and ancestry. Whole-genome sequencing can provide a much clearer and more accurate view of patients’ genetic makeup, which doctors can use to precisely identify some diseases, including certain forms of cancer and heart disease. However, the price of performing the tests, as well as their interpretation, has been a barrier for many patients. Companies are trying to bridge this gap so that more people can have access to this potentially life-saving information.

More efficient machinery and materials from Illumina are reducing the cost of sequencing one genome. The company says that costs will range from less than $200 per genome to $240 for a higher-quality analysis. This price reduction could allow the practice of DNA sequencing to move into the mainstream, where it might be used to better tailor medications or treatments to people or have other health benefits.

"This will be a huge force in terms of significantly increasing accessibility to genomics," deSouza said. "It will allow sequencing to be offered to hospitals and researchers at much lower prices, making it more accessible to a wider range of people."

In the 21 years since the first analysis of the human genome sequence was published, genetic data has mostly been confined to research settings, Eric Topol recently wrote. However, Illumina sees its new sequencing machine as a way to change that. Every meaningful price drop has rapidly led to an increase in the number of people whose genes have been analyzed, deSouza said.

Illumina's new NovaSeq X series is available in two models, with the base machine costing $985,000 and the more advanced model costing $1.25 million. The new sequencers also come with new features, such as a simpler interface that could allow people without advanced degrees to use the machines, deSouza said.

This is a crucial test for Illumina, which is based in San Diego. The company cut its full-year sales outlook last month, raising questions about demand. New competitors are cropping up and threatening Illumina’s dominance of the sequencing market. Moreover, the company’s years-long quest to acquire early-cancer detection company Grail is in limbo and facing regulatory challenges in Europe. Shares of Illumina have lost nearly half their value this year.

The company is hosting a conference this week to unveil its new technology. Speakers include former President Barack Obama, billionaire philanthropist Bill Gates, and some of the top scientists in the genomics field. With so much attention on the company, it is sure to be a high-profile event.

Investors are closely monitoring the situation for clues as to whether Illumina can turn things around. Customers, mostly drug companies and research institutions, will be closely watching prices. Prior to the launch, nearly three dozen sequencing customers had estimated that Illumina would set prices at $280 per genome, according to a survey from Cowen analysts.

The new machines could have real financial implications for researchers who sequence large numbers of people, said Aris Baras, who leads Regeneron Pharmaceuticals Inc.'s Genetics Center. Regeneron scours genetic data to discover new drug targets. Baras praised Illumina for continuously decreasing the price of sequencing, which has allowed Regeneron to screen about 2 million people.

This is a testament to Illumina's innovation in terms of pushing down costs and increasing output. This is especially impressive given that they haven't had too many competitors who have been able to match them. However, the price isn't low enough for Regeneron to switch to exclusively whole genome sequencing. The drugmaker mostly scans only genes of key interest, which costs between one-fifth and one-tenth the price of reading all of a person's genetic material.

New companies are also trying to create less expensive tests for genome sequencing. Ultima Genomics Inc. said earlier this year that its machine could sequence a genome for only $100, which puts pressure on Illumina. However, DeSouza downplayed the threat, saying that the market has always been competitive and that Illumina's new line has been in development for at least five years. He said that reaching the $100 genome goal will take more steps, but these technological advances put Illumina "much closer" to that goal.

Illumina is already previewing its new machines with some customers, including Regeneron. The company will start shipping the first orders early next year.

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