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2011: the year when whole genome sequencing becomes blasé?


If you needed any reminder that full genome sequencing becomes normal, even blasé science, see yesterday’s under-the-radar announcement that sequencing firm Complete Genomics, based in Mountain View, California, will deliver 600-plus genomes to the Institute for Systems Biology (ISB) in Seattle, Washington.

The project, which focuses on neurodegenerative disease, is the firm’s third job for ISB, following a batch of 100 genomes for a study of Huntington’s disease and four genomes for a study of a rare genetic disease called Miller’s syndrome, which we covered here and here .

Even if Complete Genomics delivers by the end of 2011, the order will represent a drop in the bucket of the estimated 30,000 human genomes expected to be sequenced worldwide this year, according to a recent Nature feature. The Beijing Genomics Institute, a world leader in sequencing capacity, is alone expected to deliver 10,000 to 20,000 of those genomes.

A topic getting a lot of play on blogs right now is the cost of such genomes sequences. Complete Genomics and ISB didn’t release the financial terms of their deal, notes Genomeweb. But the company made news in late 2009 quoting a $5,000-per-genome cost that excluded its overhead. Costs have fallen since then, so it’s not inconceivable to think that a $1,000 genome will be announced this year.

But in a recent blog post, Forbes biotech writer Matthew Herper explains “why you can’t have your $1,000 genome”. He’s talking about patient genomes for potential use in medical diagnosis and treatment, not sequences used for basic research, but his point is well taken. The costs of generating raw-sequence data may be falling dramatically, but the cost of making sense of all that data isn’t coming down nearly as fast. Also, a medically useful genome will need to be extremely accurate, incurring additional sequencing costs.

“I’m confident that I’ll be obtaining my own near-$1,000 genome in the not-too-distant future,” says Daniel MacArthur, a scientist at the Wellcome Trust Sanger Centre near Cambridge, UK, on his blog. Genomes obtained with a doctor’s prescription may not reach the arbitrary $1,000 price point any time soon, he says, but “individuals with the motivation to seek alternative routes will be able to obtain a perfectly serviceable genome sequence at a substantially lower price”.

People are already analysing their personal genome scans generated by companies like 23AndMe with resources like SNPedia and MyKaryoView, and MacArthur expects that growth in genome interpretation software and databases will help people easily come to grips with their “DIY Genomes".

But if yesterday’s announcement from Complete Genomics is any indication, such pioneers should not expect many people to pay much notice to their genomes (except, of course, their mothers).


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