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Illumina Introduces the Sequencing Machine It Says Will Take Us to the $100 Genome

The first genome cost $3-4 billion, and took over a decade; one can debate the specifics.  Times change. Last week, the world leader in gene sequencing (Illumina) announced a new sequencing machine that it says will yield a $100 genome within a decade, as described in articles everywhere. For example, see this January 9, 2017 article in Forbes.  Imagine the impacts for studying diseases, and making claims about the “causes” of disease.

The press release from Illumina explains:

“January 09, 2017 05:30 PM Eastern Standard Time


SAN DIEGO–(BUSINESS WIRE)–Illumina, Inc. (NASDAQ: ILMN), the global leader in next-generation sequencing technology, today introduced the NovaSeqTM Series, a new and scalable sequencing architecture expected one day to enable a $100 genome. Unveiled at the J.P. Morgan Healthcare Conference, this platform redefines high throughput sequencing with unrivaled throughput, ease of use, low per sample costs, and unmatched flexibility.

NovaSeq is the most powerful sequencer Illumina has ever launched and will open new horizons for more highly powered experiments at the depth required to discover rare genetic variants. It was designed from the ground up to allow a broad set of researchers to access next-generation sequencing technology and more easily conduct large-scale genomics projects with greater sample volumes, or more breadth and depth in the genome. In addition to a single instrument capable of sequencing from three to 48 human whole genomes per run, the NovaSeq Systems will open up new markets by making routine a wide range of applications from ultra-deep sequencing of matched tumor-normal pairs, to large-scale variant discovery studies associated with complex diseases, and low-pass sequencing of seed banks to select for specific traits.

“We are excited to be among the first to incorporate Illumina’s new NovaSeq System into the HLI sequencing center to complement our existing HiSeq X® Systems,” said J. Craig Venter, PhD, Co-founder and Executive Chairman of Human Longevity Inc. “Faster, inexpensive and innovative sequencing technology is a key component driving breakthroughs in precision medicine. This technology is also enabling HLI to expand the HLI database, the world’s most comprehensive database of genomic, phenotypic, and clinical data.”

“NovaSeq is a key development for clinical research,” said Richard Gibbs, Founder of the Baylor College of Medicine Human Genome Sequencing Center. “We are looking forward to generating tens of thousands of human whole genomes as we begin genome translation in earnest.”

“The Regeneron Genetics Center has sequenced more than 150,000 exomes in the last few years and we anticipate that moving to the NovaSeq platform will further increase our efficiency and output,” said Aris Baras, MD, Head, Regeneron Genetics Center. “We believe that genetic insight is critical to informing and advancing new treatments and are committed to expediting these advances for patients.”

“The introduction of NovaSeq marks one of the most important inflection points of innovation in Illumina’s history. In the same way that HiSeq X enabled the $1,000 genome with the HiSeq® architecture first announced in 2010, we believe that future systems derived from the NovaSeq architecture we are launching today one day will enable the $100 genome and propel discoveries that will enable a deeper understanding and better treatments for complex disease,” said Francis deSouza, President and CEO of Illumina. “The NovaSeq Systems enable the study of genetic links between health and disease at an unprecedented scale by making it possible to sequence more samples at greater depth and take on projects that would otherwise be cost-prohibitive. By accelerating the trajectory of genomics with these systems, Illumina is making it possible to envision a future in which all people can benefit from precision medicine.”

The NovaSeq Series includes the NovaSeq 5000 and 6000 Systems. These instruments offer ease of use features similar to those found in Illumina’s desktop sequencing portfolio, including automated onboard cluster generation, cartridge-based reagents, and streamlined workflows. With scalable throughput, users will have the flexibility to perform sequencing applications requiring different levels of output by simultaneously running one or two flow cells from up to four different flow cell types.

The NovaSeq 5000 and 6000 Systems are priced at $850,000 and $985,000 respectively. Compared with other Illumina sequencing systems, both have lower per sample consumable costs for most sequencing applications. They provide laboratories that cannot afford the capital cost of a HiSeq X Five or HiSeq X Ten System with a roadmap to completing human whole-genome sequencing projects at a cost of $1,000 per genome.

The NovaSeq 6000 will begin shipping in March 2017 and NovaSeq 5000 will begin shipping mid-2017. For more information, visit www.illumina.com/novaseq.”

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About Kirk

Since becoming a lawyer in 1983, Kirk’s over 30 years of practice have focused on advising a wide range of corporations, associations, and individuals (as both plaintiffs and defendants) on both tort and commercial law issues centered around “mass torts.”

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