gwern comments on Open Thread, January 15-31, 2012 - Less Wrong

9 Post author: OpenThreadGuy 16 January 2012 12:56AM

You are viewing a comment permalink. View the original post to see all comments and the full post content.

Comments (240)

You are viewing a single comment's thread.

Comment author: gwern 28 January 2012 06:08:03PM 6 points [-]

As part of my work for Luke, I looked into price projections for whole genome sequencing, as in not SNP genotyping, which I expect to pass the $100 mark by 2014. The summary is that I am confident whole-genome sequencing will be <$1000 by 2020, and slightly skeptical <$100 by 2020.


Starting point: $4k in bulk right now, from Illumina http://investor.illumina.com/phoenix.zhtml?c=121127&p=irol-newsArticle_print&ID=1561106 (I ran into a ref saying knomeBASE did <$5k sequencing - http://hmg.oxfordjournals.org/content/20/R2/R132.full#xref-ref-106-1 - but after thoroughly looking through their site, I'm fairly sure what they are actually offering is interpretation of a sequence, possibly done by Illumina.)

Projections: "The advent of personal genome sequencing" Drmanac http://wch.org.au/emplibrary/ccch/CPH_D5_L4_Genome_Sequencing.pdf Genetics in Medicine (http://journals.lww.com/geneticsinmedicine/Abstract/2011/03000/The_advent_of_personal_genome_sequencing.4.aspx)

Experts predict that the consumer price to sequence a complete human genome will drop to $1000 in 2014.[9] In our opinion, this will be achieved with existing DNA nanoarray technologies. We further believe that the existing DNA nanoarray technologies, with expected engineering advances, are capable of driving the cost per genome to significantly below $1000 in the following years. By 2020, with improved technology and reduced cost, we may expect tens of millions of personal genomes to be sequenced worldwide....We expect that advances in electronics will allow permanent lifelong storage of personal genetic variants (1 GB/person) for less than $10. [see also my previous discussion of kryder's law]

cite 9 = Metzger ML. Sequencing technologies—the next generation. Nature Rev. Genet. 2010;11:31– 46 http://eebweb.arizona.edu/nachman/Further%20Interest/Metzker_2009.pdf Confusingly, on pg44:

Closing the gap between $10,000 and $1,000 will be the greatest challenge for current technology developers, and the $1,000 genome might result from as-yet-undeveloped innovations. A timetable for the $1,000 draft genome is difficult to predict, and even more uncertain is the delivery of a high-quality, finished-grade personal genome.

Where does 2014 come from? I suggest attributing it to Drmanac and not Metzker. (I've emailed him to ask where his 2014 came from.) Drmanac is commercially involved and seems very optimistic; compare his answers in http://www.clinchem.org/content/55/12/2088.full to the other experts. But there is general agreement it is possible (see also paragraph 3 in https://www.sciencemag.org/content/311/5767/1544.full ).

Here's a citation for 2013: http://content.usatoday.com/communities/sciencefair/post/2011/07/race-to-1000-human-genome-machine-intensifies/1 discussing the new sequencing device in http://www.nature.com/nature/journal/v475/n7356/full/nature10242.html (more media coverage: http://www.nature.com/news/2011/110720/full/475278a.html )

In e-mailed comments to USA TODAY, [Jonathan] Rothberg confirms his team has sequenced Moore's genes:

...Much like computing, sequencing directly on a ion chip enables the rapid and continual increase in speed and reduction in cost. At the rate of Ion's current technology improvements we will reach the $1,000 human genome in 2013 and continue to drop the cost from there.

A guy from GenomeQuest (http://www.crunchbase.com/company/genomequest) agrees with Rothberg, saying $100 (not $1000) will be hit within a decade, and $1000 by July 2013: http://blogs.discovermagazine.com/gnxp/2010/07/genomic-liftoff/#comment-27818

As well: Snyder M, Du J, Gerstein M. Personal genome sequencing: current approaches and challenges http://stanford.edu/class/gene210/files/readings/Snyder_GenesDev_2010.pdf - pg 3 has a nice graph of the super-exponential price decrease (left, blue) vs total number of sequenced genomes (right, red). Probably don't need that though for a footnote.

A promising lead would be journalist Kevin Davies's The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine. I read a few reviews including one in Nature, but unfortunately no one specifically quotes a due date for price-points and the book is not on library.nu for me to search.

Hopefully that is enough for sequencing! Phew. (Something of an echo chamber.)

Comment author: gwern 15 June 2012 07:27:55PM 0 points [-]

"It beats Moore’s Law with a stick,” says [Raymond] McCauley, who believes that the $100 genome is only three years away.

--"Secrets of my DNA", Wired March 2011 (so 2014?)

Comment author: gwern 17 March 2013 02:57:39PM 1 point [-]

BGI quotes prices as low as $3,000 to sequence a person’s DNA. ...Zhang Yong, 33, a BGI senior researcher, predicts that within the next decade the cost of sequencing a human genome will fall to just $200 or $300

Inside China’s Genome Factory, Technology Review

Comment author: gwern 26 June 2013 06:59:51PM 0 points [-]

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3663089/

A few months ago, the National Human Genome Research Institute (NHGRI) updated their analysis of the cost of sequencing and, for the first time since records began, it got more expensive (Figure ​(Figure1).1). You know the graph, the one which looks like the profile of an aqua-park waterslide, a gradual incline followed by a precipitous drop as next generation sequencing kicks in. Well, now the waterslide ends with a treacherous upward flick! We have become so comfortable in the knowledge that DNA sequencing reduces in cost at a rate that makes each run cheaper than the last, that some of the scientific community are in denial. I have even seen people present this graph at meetings and explain how sequencing is getting cheaper every day despite the fact they are standing in front of a 10 foot PowerPoint slide showing clearly that this is not true. In fact, the cost of sequencing a human genome increased by $717 (an increase of 12%) between April 2012 and October 2012. This month the new figures showed that the price fell again, but the point remains - you can forget Moore's law! Some of you will think this merely means you need to replace the opening slide in your PowerPoint deck and tone down some of the rhetoric around $10 human genomes and the advent of free sequencing. I, however, think that the long-term ramifications may be more profound...'But...', I hear you scream, '...this is a temporary blip. Soon we will be saved by new cool technology that will plug into my laptop and sequence a genome for $10 in an hour'. In reality, is this just something we simply want to believe? There really is no reason to think that sequencing methodology is about to undergo a revolution in the near future. I am always amazed at the self-inflicted hype that follows any hint of a story where some company has come across a new way of sequencing that is going to turn all our Illumina kits into oversized doorstops. Often this comes not from the companies themselves but the scientists who are so desperate to buy them. The hype is usually followed by hyper-critical twitter and blog commentaries when the machine in question does not appear to do what we want it to (see this revealing interview with Oxford Nanopore's Clive Brown), in a cycle that has repeated itself at least three times in the last 5 years. I begin to wonder why we don't learn from history.

http://biomickwatson.wordpress.com/2013/05/15/a-pedantic-look-at-the-cost-of-sequencing/

This graph may or may not tell a different story. The story is that yes, sequencing costs are coming down; but since late 2007, early 2008 the rate of change of that reduction has been following an upwards trend i.e. over time, the reduction in cost from one period to the next has been increasing.

http://biomickwatson.wordpress.com/2013/06/18/the-1000-myth/

I’m going to try and lay this out in a completely technology neutral way, though I will have to mention different sequencing technologies at some point. However, I am pretty convinced of this one fact: there is not a single sequencing technology out today that can deliver 30X of a human genome for anywhere near $1000....None of the current sequencing companies can deliver 30x of a human genome for less than $1000 reagent costs (using list prices) Yes, that’s right – even ignoring points 2-5, even just buying reagents, the cost is greater than $1000 for a 30x human genome. Now, it’s possible Broad, BGI, Sanger etc can get below $1000 for the reagents due to sheer economies of scale and special deals they have with sequencing companies – but then remember they have to add in those extra charges (2-5) above. Obviously, Illumina don’t charge themselves list price for reagents, and nor do LifeTech, so it’s possible that they themselves can sequence 30x human genomes and just pay whatever it costs to make the reagents and build the machines; but this is not reality and it’s not really how sequencing is done today.

http://biomickwatson.wordpress.com/2013/06/18/the-1000-myth/#comment-2031

In my recent talk at the NIH symposium to mark the 10th anniversary of the HGP: http://bit.ly/KDHGP10 … I quoted a personal communication from Illumina CSO David Bentley, who says that in batch mode, the HiSeq can currently sequence five human genomes (presumably to 30x or higher) for a reagents list price of $25,000 — or $5,000/genome. With negotiated discounts (or if you want to estimate the wholesale cost), take 1/3 or 1/2 of that figure. So for what it’s worth, we might be edging close to the $2,500 genome, but that’s as good as it gets for now.

http://www.utsandiego.com/news/2013/Jun/19/1000-genome-mirage/2/?#article-copy

"He's right," Topol said. "If you get a bunch of genomes done at Illumina, you can get 'em for $2,500 each -- today." But in 2004, Topol said, sequencing a human genome cost $28.7 million. "Now we already have a 99.8 percent plus price reduction," Topol said. "We don't have that much further to go to get from $2,500 to $1,000. Most everyone would forecast that in a couple of years we will get to that number, with deep coverage of 40-fold, so it's accurate. I think it's clearly within reach now." "And I want to take it a step further," Topol said. "It's going to go well below $1,000 a genome in the future."...Topol agreed with Watson's take on the PeerJ statement [$100]. "That's a little far-fetched," he said. But incremental progress in getting the price lower once that $1,000 mark has been reached will continue.