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Medicine Biotech Science

The Race To $1,000 Human Genome Sequencing 153

ericjones12398 writes "Just one decade ago, sequencing an entire human genome cost upwards of $10 million and took about three years to complete. Now, several companies are racing to provide technology that can sequence a complete human genome in one day for less than $1,000. 'A genome sequence for $1,000 was a pipe dream, just a few years ago,' said Dr. Richard Gibbs, director of the Human Genome Sequencing Center at Baylor College of Medicine, 'A $1,000 genome in less than one day was not even on the radar, but will transform the clinical applications of sequencing."
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The Race To $1,000 Human Genome Sequencing

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  • My genome would make an awesome screensaver!
  • by vlm ( 69642 ) on Monday May 28, 2012 @05:03PM (#40137343)

    'A $1,000 genome in less than one day was not even on the radar, but will transform the clinical applications of sequencing."

    Cheap enough that it'll transform the legal system too. "Guess who's not your daddy?"

  • Cost of chemicals? Machines I think cost in the neighborhood of 100-300k. Doing a complete sequence in less than a day would be great but still not really practical. Is a lab going to have 100 of these bad boys or are only ~250 people (assuming labs don't work weekends) going to get sequenced a year per hospital or whatever? Gene sequencing in general isn't very scientific they don't start with a testable hypothesis and then do measurements. They try to test everything and then come up with a hypothesis to

    • Sequencing a gene is not like some kind of one-time exam. Your genes don't change. Once they are sequenced, that's it - you can use the results forever.

      If it was only $1000 or even $5000 to sequence your genes, it is more than a worthwhile investment, as you can then compare your sequence against new things constantly being discovered as the state of gene science improves.

      Like others have pointed out, at this kind of price point a lot of parents would simply opt to have their child sequenced at birth, to ho

      • Re: (Score:3, Interesting)

        by Anonymous Coward

        Actually, your genes change slightly, for example when damage causes cancer. If you baselined yourself at childhood, you could find the cancer genes later in life by sampling the tumor. Your genes are always slightly drifting during your life (replication damage) and merging between generations (reproductive changes).

      • by jd ( 1658 )

        Uhhh, not true. Genes change, due to retrotranspons moving genes around and retroviruses (there's a lot of them) adding new genes to your DNA. It is now known through sequencing that every brain cell in your brain has a unique genome, for example. Your genome is also radically altered throughout your time as a zygote, it turns out. There comes a time when the DNA stabilizes, but for a while it is prone to all kinds of mutations.

        Any human that was not born as a twin likely carries at least two significantly

      • As mentioned by another poster genes change, they also get more or less activated depending on environmental factors, chance events etc. Everyone would likely have hundreds of things that their gene says they are more likely to get in their lifetime. They would then have to be continually monitored to see if those genes have become active, would get paranoid when having kids. "Oh my God you have the same really low risk gene as I do and it has been shown in a couple contradictory papers to have a slight cor

    • I don't need a $1000 test to tell me what colour my hair is.

      I am bald you insensitive clod.

    • You're missing the point. You don't need a thousand-dollar test to tell you what color your hair is. You do need a thousand dollar test to tell you how your specific cancer is disregulated, and which pathways which have been damaged can be targeted by non-cytotoxic chemotherapy drugs. That's the true revolution behind cheap sequencing; it tells you EXACTLY what the problem is. This means you can move from drugs that kill everything, hoping that they kill cancer faster, to drugs that inactivate or inhibit ve
      • So then it is at least a $2000 problem than right? They have to sequence your healthy tissue and the tumor to determine what will kill one and not the other. Also assuming that the tumor doesn't have multiple types of mutations.

    • by RDW ( 41497 )

      If Oxford Nanopore lives up to their hype, we can expect the price of instruments to fall dramatically. Their technology is supposedly very scalable, with the cheapest gadget packaged as a self-contained disposable $900 (!) USB stick sequencer: []

      This isn't genome level, as it will 'only' do a few hundred megabases before it burns out, but the workhorse instruments will use many more replaceable nanopores in parallel, packaged in racka

    • There are all kinds of subsets available, actually. You can get a microarray analysis done for a couple hundred dollars; that can screen for most hereditary diseases for which the mutations are known. You can even have full-exome sequencing done (all of the parts of DNA that we know turn into protein sequences), which will tell you your hair colour, but can't detect fragile X syndrome. And you can even ask to have only certain cherry-picked parts of your genome sequenced (in fact there are some parts we sti

  • by Blahah ( 1444607 ) on Monday May 28, 2012 @06:00PM (#40137599)

    It's worth pointing out that it's not just human genomes which will be cheap. I'm excited about the applications this has in biology at large. If sequencing costs continue dropping at anything like their current rate of decrease, whole genome sequencing will soon be opened up to all sorts of interested parties. That has huge implications for taxonomy and phylogenetics, conservation, crop breeding and plant science as a whole.

    If genome sequencing costs drop, that means other types of sequencing costs drop too. For example RNA-Seq, which lets us see which genes are currently active at a given point in time, in a sample from an organism. Things which are currently conceptually possible but prohibitively expensive, such as comparing the active genes across hundreds or thousands or species in a particular state, or across a species in hundreds of different environmental conditions, will become possible. Our understanding of life processes will deepen by an order of magnitude, with inevitable benefits in biotech, medicine and agriculture.

    • That has huge implications for taxonomy and phylogenetics

      One of the most exciting potential projects I've seen recently is a proposal to sequence 10,000 vertebrate genomes [], which would sample nearly every genus. One of the project leaders, David Haussler, has previously worked on extrapolating backward from known mammalian genomes to guess at the genome of the common ancestor (100-plus million years ago). That was with several orders of magnitude less data - if they actually pull this project off, we'll b

  • by Doc Ruby ( 173196 ) on Monday May 28, 2012 @06:37PM (#40137757) Homepage Journal

    Even when a complete genome sequence run costs the lab $1000, it's going to cost the patient $100,000 on their bill. Because nothing exists in the medical industry to reduce the prices charged to patients. Even insurance corps' leveraging their own and their cartel's buying power to reduce prices paid to medical providers then slap their own extreme charges and fees (and waste) to raise the retail cost back up.

    Though not as much in Europe. So Europeans will get to consume American medical exports like quick, cheap sequencing technology. Evolution in action.

    • The sequencing is $1K; but the interpretation and analysis of these genes will rely on large datasets and advanced, patented algorithms and in the total cost calc...the $1K will actually be the cheap part. Much like computer hardware is a commodity with razor thin margins but software/consulting are expensive with high margins.

    • by Rich0 ( 548339 )

      Actually, it will go more like this:

      1. You call up the lab and tell them that you're interested in a whole genome sequence. The lab will tell you that it is illegal to perform this service without a prescription.

      2. So, you talk to you doctor. He asks you why you need one - what is wrong with you. You explain your symptoms (since pure curiosity is not justification for a medical "procedure"). He bills you $80.

      3. You end up getting blood tests, x-rays, and every other test imaginable that you have to p

  • We can sequence genes. We can edit the sequence of many genes we've identified to switch the phenotype they express among meaningful choices. We can edit retroviruses to make them edit genes from A to B in living cells. We can combine sperm and egg IVF to produce a blastocyst. We can even insert full cell nuclei into collected foreign eggs, which we can cultivate into a blastocyst in a lab. We can convert skin cells into egg cells for that purpose.

    How close are we to a synthetic womb that can gestate a full

    • surrogacy is here now, and quite affordable. like everything else, we can outsource it to a developing country.

      • That's not a synthetic womb, it's an outsourced womb. The rest of the phases I itemized can all be automated. But the role of the womb seems to require a human for gestation.

        • yes, but the sources of the original cells are also not automated. presumably the originator of the egg cell that was modified would also have some form of womb.

          otherwise we're creating cells molecule-by-molecule, which though cool and sci-fi, is a little out of reach at the moment.

  • []

    Like we do not have enough trouble with crappy reads right now, frameshifts right in the middle of universal proteins, etc.

  • "What is sad is that the prices for those "non-sequencing associated functions" have become prohibitive. It's because the decreased price is for crappy sequence. Little bitty pieces that don't tell you anything. Grrrrr....."

If God is perfect, why did He create discontinuous functions?