Posts Tagged ‘illumina’

Roche’s Proposed Takeover of Illumina—Game On for Universal DNA Sequencing?

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February 3rd, 2012
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There appears to be a full-scale race underway to bring affordable next-gen DNA sequencing into diagnostics and clinical medicine, as demonstrated over the past week or so by Roche’s hostile $5.7 billion-dollar bid for Illumina.  Roche’s move should come as no shock. The multi-national healthcare giant has been a leader in diagnostics by virtue of several earlier acquisitions. But this action signifies a formal acknowledgment that next-gen sequencing will be part of the diagnostic and clinical toolbox—perhaps sooner than we thought.

Roche’s aggressive move may be motivated by an optimism that arose from whole genome-sequencing on the individual level. We noted this rising tide of optimism early last year, and many advances have been reported since then. We’re certainly seeing many examples of the application of next-gen sequencing to diagnose disease and to help match the right drugs to the right patients. Examples of companies that are staking claims over the early application of targeted sequencing of specific panels of genes for diagnostics include our client Multiplicom, which develops CE-marked, multiplexed PCR kits to generate templates for next-gen sequencing, and Foundation Medicine, which is using targeted sequencing to help diagnose certain cancers and to guide the treatment of cancer patients.

But when viewing the widespread adoption of DNA sequencing, there’s a vast difference between the targeted sequencing of selected panels of genes, exome sequencing, and whole genome sequencing. As noted in our coverage of the 2011 Molecular Med Tri-Con, the challenge of interpreting the large reams of data gathered from scanning the full genome remains the elephant in the room.  We will be attending this year’s Tri-Con later this month and look forward to hearing about progress in this regard.

In addition to the challenge of data analysis, we still face some persistent technical issues. Although the cost of DNA sequencing is declining rapidly, there are significant improvements to the technology that are yet to be realized. Speed, cost, and accuracy will be key drivers of clinical and diagnostic DNA sequencing. Although costs are declining rapidly, most next-gen sequencing platforms are somewhat error prone and they have relatively slow cycle times. The accuracy problem is overcome by re-sequencing samples to a high level of coverage or redundancy to help eliminate stochastic errors.  High sequence coverage is also needed to identify cancer causing mutations that are present at low frequency and in samples that often contain a mixture of both healthy and cancerous cells.

In clinical applications where patients’ lives are at stake, an accurate diagnosis is crucial. So improved accuracy will not only generate more reliable data, but will also reduce the computational burden, and lower the overall cost and the time required for analysis. Achieving the 1000x sequencing coverage that is required for cancer-related applications is a weighty burden. Sequencing platforms with higher levels of accuracy, lower cost and higher speed will provide a significant advantage. LaserGen is a forward-thinking company (and Popper and Co client) that has developed advanced sequencing chemistry with greatly improved accuracy, reduced cycle times, and lower cost relative to existing next-gen chemistries. This combination of improved speed, cost, and accuracy could help to drive more widespread adoption of next-gen sequencing for clinical and diagnostic applications.

Also, as noted in a recent Bloomberg News article about young twins whose illness was clearly identified via genome sequencing, many obstacles, including lack of health insurance coverage for sequencing, will likely impede progress. Until payers wrestle with a future that includes a populace that is well-informed about their genetic predispositions, even affordable gene-sequencing may find itself relegated to a pile of non-insurable “preventative” claims. And as mentioned earlier—we still do not fully understand the function of every part of the genome.

Ultimately, I believe Roche’s acquisition of Illumina—if it goes through—will be good for the gene sequencing industry, good for Roche’s competitors and good for healthcare consumers. The buyout of Illumina helps validate the idea that sequencing will become part of the diagnostic and clinical toolbox in the near future. Whether companies realize this and plan accordingly, or whether the wave simply carries everyone along, remains to be seen.

Do you agree that this is a good move for the diagnostics and sequencing industry as a whole? What might it mean for your company or your spot in the life science industry? Please share your thoughts with us here.

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DNA Sequencing – Now It’s Getting (Even More) Personal!

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January 31st, 2011
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“We said that once we had finished sequencing the genome we would make it available to the scientific community for free. …And we will be doing that on Monday morning at 10am.” – J. Craig Venter, February, 2001

It’s been ten years since the famous unveiling of the first human genome sequence. Since then, we’ve developed the ability to sequence large numbers of individual human genomes thanks to rapidly changing technology that translates into ever lower costs per genome and higher throughput sequencing capabilities. The $10,000 genome has arrived – even sooner than anticipated – and now the challenge is to figure out what to do with all of the information that is starting to accumulate.

The past year has seen a number of key developments and there are no signs that things will slow down over the coming months:

  • Several next-generation and third-generation DNA sequencing platforms have been launched and many genomes have now been sequenced.
  • Last June, Illumina, Inc. announced that it would sequence whole genomes at 30-fold coverage for $19,500, and then promptly dropped the price to $9,500 for orders placed by physicians who would use the resulting information for genuine clinical relevance.
  • Genome sequences can be delivered to your iPad. Take a look at Jim Watson’s personal genome sequence to get an idea of how all of this may start to take shape.
  • The Personal Genome Project, which is spearheaded by George Church and coworkers is recruiting 100,000 volunteers to donate their DNA and medical histories to help create a critical mass of data that will enable the development of tools to assess various risk factors and to generally interpret the information encoded within ones genome.

All of these developments have been eclipsed, however, by several recent announcements that hold the promise of moving the DNA sequencing field into an even higher gear. At this month’s JPMorgan Healthcare Conference in San Francisco, for example, several companies announced hardware upgrades and new sequencing platforms.

  • The just-announced $50,000 Ion Torrent Personal Genome Machine from Life Technologies has already been upgraded to deliver 100 megabases per run.
  • Illumina announced its $125,000 MiSeq instrument, which will deliver up to 1.5 gigabases per run (current output is a more modest 120 megabases) at a cost of $750 per run.
  • Both of these platforms compete with the $100.000 Roche 454 GS Junior, which produces 35 megabases per run.
  • Pacific Biosciences also described its long-read technology; average 950 BP read length (vs. ~50-400 for most other platforms), with many reads exceeding 2500 BP.
  • And lastly, Complete Genomics announced that its service offering has expanded significantly; the company expects to be able to deliver between 800 and 1200 genomes per month by the end of the year, and that has a current order backlog of 1000 genomes.

And, just last week, diagnostic testing company PerkinElmer entered the fray by announcing that the company would create a service business to allow researchers to get genetic data without owning their own DNA sequencers or high-powered supercomputers. PerkinElmer customers would be able to access and then analyze sequencing data in the “cloud” after entering a password-protected site.

So where will all of this lead? Basic science and molecular diagnostics seem poised to reap major benefits. However, diagnostic applications will not entirely come to fruition without significant growing pains. Although personalized medicine has arrived on the scene, regulatory and reimbursement issues remain a challenge for companies that plan to apply the most recent sequencing technologies for diagnostic applications. It’s also not yet clear how best to use the available information and to avoid the temptation to interpret the massive amounts of data given the relatively limited number of clinical studies that have been undertaken.

Nevertheless, we expect to see a lot of sequencing being done in diagnostics labs over the coming months. It’s just a matter of time before the business catches up with the science, and the clinicians catch up with the sequencers. Where do you think it will lead? What are the implications for your predictions? Please share your thoughts here.

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