The Next Revolution In Medicine: Genome Scans For Everyone 126
the_newsbeagle writes "This year, a biotech company called Ion Torrent will introduce a new chip for its genome sequencing machine, which should enable researchers and doctors to scan a complete human genome for $1000 and in just a couple of hours. Compare that to the effort required to complete the first human genome: $3 billion and 13 years. Ion Torrent has nearly reached the $1000-genome milestone by virtue of a process called 'semiconductor sequencing,' and the company's founder says his chip-based sequencing machine benefits from all the efficiencies of the computer industry. At a price point of $1000, genome scans could become a routine part of medicine. And the price could keep dropping. To test out the technology, and to investigate just how useful genome scans are these days for your typical, reasonably healthy person, the IEEE Spectrum reporter got her own genome scanned and analyzed."
Re:will make a mockery of preexisting conditions (Score:1, Interesting)
Don't forget that when Obamacare kicks in the government will hold all your health records. Now, don't you think that they will submit your DNA info to at least the FBI if not all local law enforcement departments? I do.
Re:Just hold on a minute there, cowboy. (Score:5, Interesting)
For the foreseeable future, there is remarkably little utility that an individual's genome brings to the table.
That's true as long as you treat humans like poor people treat cars and fix them when they break, but it's not true if you treat humans like rich people treat cars and take them in (or have them taken in) for all their scheduled maintenance.
I worked at a DNA sequencing company for 5 years (Score:5, Interesting)
I've always considered biology to be hundreds of years behind physics and the other "hard sciences", because they never had the tools to deal with it.The CPU power, the RAM, the hard-disk space, even the cloud infrastructure are all needed to make DNA sequencer efficient. The last instrument I worked on was a low cost DNA sequencer that could yield a sequence in one day. At the end of a run, to do the basecalling and base alignment of the data, you would need significantly more horsepower than what was on the meager instrument. The cloud allows you access to a supercomputer the the short time that you need it, so the customer is not burdened by the huge computational complexity involved.
As the cost sequence drops (and continues to drop), whole new fields of research have opened up. Bioinformatics where biology and computer science meet is a pretty hot topic. We have a deluge of data, but we don't yet have all the good algorithms necessary to unlock all the secrets we wish to solve. The Rosetta stone of the 21st century. This is the biggest complaint I hear about from biochemists.. Making sense of the data. Data leads to knowledge leads to wisdom, but data is not knowledge.
I consider DNA sequencing to be an enabler, just like the steam-engine, or the electric light. It is now possible to look deeply at things we never could, like meta-genomics. Did you know that you have more bacteria in your body then all other cells in your body put together? ..And did you know that you can't grow most of them on a petri dish? We have been to mars, but we don't even know the bacteria in our own gut. Meta-genomics is a form of "shot-gun sequencing" .. In the lab you understand the biology by making millions of replicas of it in the petri dish.Not all bacteria grow on a petri-dsh . With shot-gun sequencing, you sequence enough sample so you can digitally reconstruct what organisms were there to begin with. This has enabled us to [begin to] understand the biochemical messaging between soil bacteria and the roots of plants, understand the biochemistry of food digestion to generate bio-fuels more efficiently, etc .. Interesting times...
Re:Pretty little (Score:4, Interesting)
Well, it's $1000 for the consumables for the device, and the operator's time. Then there's the cost of the machine, building, admin, etc.
In reality though, this is extraordinarily cheaper than what is done at present. Currently, if a physician suspects a genetic disorder, then they the typical process used in a medical genomics laboratory is to use a "matching" technique where the patient's DNA is matched to known mutations. Typically, this costs around $500-700 per mutation tested against. For a number of diseases, this only gives a 75-80% accuracy, because certain genes are prone to new spontaneous random mutations, and have a lot of "normal" functioning variants - so simply checking for a known good gene isn't an option. As a result, these patients end up only with a presumptive diagnosis, leading to difficulties in family and reproductive counselling (i.e. do siblings need to be aware of the risk of passing on a genetic disorder to their offspring?)
Sequencing is occasionally performed in patients with unknown presumed genetic diseases, where a suspected gene is known - but the cost is very high, and it is infrequently done, unless a whole family are affected, and it is possible to identify which the culprit gene is likely to be.
Total genome sequencing, while not a panacea, would greatly help the diagnosis and research into newly recognised, presumed genetic diseases. If the total cost of the testing can be brought down to $2000 per analysis, then that would be cheap compared to the current techniques for genetic diagnosis.
Finally, as to the MRI - the actual cost of an MRI scan including scanner, building, maintenance, staff, admin is about $300-600 depending on scan complexity (or at least, that's the "bulk" price charged by private MRI facilities to insurers or hospitals who have exceeded the capacity of their own MRI scanners).
Re:I worked at a DNA sequencing company for 5 year (Score:5, Interesting)
I have generally considered biology so far behind the other hard sciences, especially physics, precisely because for a very long time they failed to consult with the chemists, physicists, and engineers. It has largely been self-induced, and almost entirely a process of falling behind. Heck we have some hacks out there in biology using morphological databases (today - with all the genetic tools they have!) to reverse engineer evolution, when the biologists are well aware that morphology is a good categorizing and search tool (it tells you where to start genetically looking), not an extrapolation tool for real data and conclusions.
Physics in particular finally just started going the route of butting in wherever they figured out they could be useful to biologists and clinicians especially. CT and MRI are great examples.
Rothberg's own 6 years of research to sequence 9000 letters of genetic code is a perfect example. After a year or so, a physicist or engineer would have said f--- this, there must be some way of automating this process. I suspect most of the scientists at Ion Torrent are chemists, EEs, and physicists. Probably not too many pure biologists (though some biophysicists are probably around).