Earlier this week we took a look back at 2010 and offered our projections for the coming year in personal genomics. Topic #1, just as it was last year: the $1,000 genome.
In hindsight, it might have been ill-advised to offer predictions about the near-term future of genome sequencing during the same week in which one of the year’s major industry conferences (the JP Morgan annual Healthcare Conference) is taking place.
There have been a number of high-profile announcements from genome providers over the past two days. Life Technologies disclosed it had booked 60 orders for the recently unveiled Personal Genome Machine (PGM) and, more importantly, announced that the PGM’s output would be increased by an order of magnitude (10 megabases to 100 megabases) in Q1. Not to be outdone, Illumina, the current market leader in genome sequencing technology, responded later the same day by unveiling its new MiSeq machine. As both Matthew Herper and Keith Robison explain in detail, the MiSeq is a direct and formidable challenger to the Personal Gene Machine as a result of its price, speed and utilization of Illumina’s established sequencing platform.
But the biggest stories, at least by one metric, belong to sequencing newcomer Complete Genomics and Illumina (again). Complete Genomics announced this week that the Institute for Systems Biology (ISB) has ordered a whopping 615 whole-genomes as part of the ISB’s ongoing research into the genetics of neurodegenerative diseases, including Huntington’s. Meanwhile Illumina, at the same time it was launching the MiSeq machine, disclosed that it “currently has a 1,000-genomes backlog” for its own whole-genome sequencing service.
Let’s forget, for a moment, about how much these whole-genome sequences cost and reflect on simply how many of them there are. Just over a decade ago, Bill Clinton and Tony Blair were lauding the first draft human genome sequence; and the Human Genome Project would not declare the first genome “complete” until the spring of 2003.
Again, seven and a half years ago, there was only one single genome sequence to be had anywhere in the world. And it took 13 years and $3 billion dollars to get just the one. Today? We casually discuss hundreds and even thousands of genomes to be sequenced in a matter of months and for thousands of dollars apiece (not $1,000, but likely less than $10,000).
Even if the $1,000 genome does not arrive this year, 2011 will almost certainly see 1,000 genomes sequenced. And in many ways, that may be the worthier milestone to celebrate. Every significant increase in the number of sequenced genomes means a corresponding increase in the amount of genomic data available to elucidate the genetic bases of human traits and disease. There is still a tremendous amount of work to be done to make sense of all that data (and a tremendous amount of environmental, trait and other data that must also be correlated), but sequencing thousands of genomes is a significant step in that process.