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Illumina wants to sequence your whole genome for $100

Posted in Medicine on 11th Jan, 2017 04:37 PM by AlexMuller

The first sequencing of the whole human genome in 2003 cost roughly $2.7 billion, but DNA sequencing giant Illumina has now unveiled a machine that the company says is “expected one day” to order up your whole genome for less than $100. CEO Frank deSouza showed off the machine, called the NovaSeq.


He told the crowd the machine’s scanning speed could decipher an entire human genome in less than an hour.

Let that sink in. In less than 15 years we went from what once took billions of dollars and over a decade of research to an hour’s worth of time with the promise of a blip of the cost.
But the price for genome sequencing has been in continuous free fall since the beginning. In 2006, Illumina’s first machine could sequence a human genome for $300,000, and just last year the company announced it could do the same thing for $1,000.
The rapid reduction in costs have already helped in clinical research, but even greater speed and a lowered price point will likely be enticing to health startups with a focus on the consumer. While plenty of clinics and researchers have been able to access genetic data in cancer research and other diseases, consumer interest in genetic research has also piqued thanks to tests from startups such as 23andMe and AncestryDNA.
And celebrities such as Angelina Jolie have helped spur interest in women to get genomic screenings for breast cancer, such as BRCA-1 and BRCA-2, like Color Genomics provides.
The San Diego-based Illumina plays a huge back-end role in many of these direct-to-consumer tests. If you’ve ever had your DNA sequenced by 23andMe, or one of the many other services, it’s highly likely it was done on one of Illumina’s machines.
Many of these testing services already cost a couple hundred dollars and the lowered cost and higher speed could not only give them a larger margin in profits but the ability to process faster and possibly bring in a higher load of customers.
Illumina’s new machine is meant to be a lower-priced device and comes in two models, NovaSeq 5000 for $850,000 and the NovaSeq 6000 for $985,000.
Six customers have already come on board to test NovaSeq, including the Chan Zuckerberg Biohub (the life sciences arm started by Mark Zuckerberg and his wife Priscilla Chan), the Broad Institute of MIT and Harvard and biotech companies Regeneron and Human Longevity Inc. DeSouza also confirmed each company had put in a purchase order for the new machine.
But Illumina doesn’t have its device down to $100 a pop just yet. And it will still take some time to interpret the data. Of course, the rapid adoption of AI may help speed things up a bit there, and the mind-boggling reduction in price to get this genetic information is exciting.
Shares of Illumina went up by 16 percent after the announcement.

Tags: DNAgene sequencingbusinesshardwaremedicineresearch

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View comments by:
Author: Guest
Posted: 2017-01-12
The prospect of achieving the predicted 100 USD for a human genome before 2020 is indeed exciting and will be helpful to speed up precision medicine
1 Replies
Author: Guest
Posted: 2017-01-12
Yes, it is exiting however interpretation of genomic data is not straight forward owing to a complex interplay between genes and genotype to phenotype links - this is needed for genetic data to be meaningful Reply


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