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The Race To $1,000 Human Genome Sequencing
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."
My genome would make an awesome screensaver!
How close are they from creating a person from picked genes
Actually quite far, mammals cloning suffer some problems that cheap sequencing will don't help solving.
how does that affect evolution?
Evolution ? Of humans ? Since the beginning of medicine, since we save the weak and the sick, evolution is not a natural process anymore, but something we control ourselves as a civilization.
Cheap sequencing, on the other hand, is a very good news to raise the size of human data that we have. Medicine will improve thanks to that. There is still a lot to understand, and the more data we have, the better.
The Wise adapts himself to the world. The Fool adapts the world to himself. Therefore, all progress depends on the Fool.
I find Gattaca's plot more likely than creating humans by mixing genes: https://www.youtube.com/watch?v=m_nkVmRSpfE
sequencing is to creating a fully synthesized human as taking a picture of a skyscraper is to building it.
how does that affect evolution
LOL a pretty good one line summary of civilization is "replacing evolution with something else" or "civilization is the subversion of evolution" or "evolution and civilization are opposites". If you have laws and hospitals, evolution is pretty much on the way out.
"Science flies us to the moon. Religion flies us into buildings." - Victor Stenger
Decoding the genome =! reintroducing changes. So no, you don't get human walks in - Gene Enhanced Creature walks out of the boutique DNA store.
It's actually not clear exactly what you get. Likely not much for clinical medicine just yet. More likely a boon to the rest of biology. Imagine being able to sequence little bugs / plants / exciting and unusual critters from your pond scum in a hour. That allows you to break open biological systematics so that we can really create finely detailed maps of the ebb and flow of genetic material over the planet.
You could also find out if your sister was really your sister, or indeed even human. But you could do that now with SNP (single nucleotide polymorphisms) for a couple of bucks and a Priority Mail envelope.
Faster! Faster! Faster would be better!
'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?"
"Science flies us to the moon. Religion flies us into buildings." - Victor Stenger
Evolution is simply the description of the effect of the environment on species over time. Change the environment (e.g. introduce civilization) and evolution continues, it's just responding to different pressures.
Actually, you are not that wrong about a Priority mail envelope. Researcher can now compress genomes to very small sizes. Small enough to fit an email attachment :
http://bioinformatics.oxfordjournals.org/content/25/2/274
How close are they from creating a person from picked genes and how does that affect evolution?
Choosing a fertilized egg based on its genetics is already possible through pre-implantation genetic diagnosis. To do this, you need in-vitro fertilisation. This was the situation that was portrayed in Gattaca. If you have sex to get babies, you're stuck with randomness within the limits of your (and your partner's) genes.
In 2005, it was possible to genotype about 5 different genetic variants from a single cell. Now it's possible to do a few tens of thousand, as long as you're willing to deal with a bit of error (you need the whole genome to be amplified up to readable amounts first). I expect that the oxford nanopore technology will make single-cell full genome sequencing a possibility without whole-genome amplification.
Ask me about repetitive DNA
impressive , three posts till a nazi mention
Evolution ? Of humans ? Since the beginning of medicine, since we save the weak and the sick, evolution is not a natural process anymore, but something we control ourselves as a civilization.
Oh it's evolution all right. "Natural" or not, it's the same thing. We're selecting for traits that are advantageous at the point in time the selection occurs. In the case of the 'weak' or 'frail' we are making a conscious selection to keep these folks around for whatever reason. In the long run, it may help or hurt if the selection pressure on humans changes. Perhaps allowing kids who were born premature, who would not have survived except for the intervention of modern medicine, to survive and breed will pass along some genes that allow for their kids to survive in a high CO2 environment (or what ever). You don't know. Any time you select genes you're evolving.
Remember, evolution doesn't move in any particular 'direction'. Newer isn't better, just more adapt to the local environment. Change the environment, change the needed adaption and life goes on.
Nature cares not.
Faster! Faster! Faster would be better!
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 hope to prepare them for a safer future.
Not sure how accurate it is but the rudimentary DNA testing National Geographic does appears to be quite good at spotting basic ethnicity, especially Ashkenazi Jews, and they do something far less than full sequencing.
My family tree includes a Cherokee Indian and it come up with a pretty big blank on that one, but there probably isn't a very big sampling base for that while there probably is a big sampling base for Ashkenazi.
Even if its not entirely precise it will almost certainly be more precise than measuring facial features, or relying on genealogy like the Nazi's did.
One thing is a certainty that whatever race the next master race picks, the party leadership should probably get their own DNA sequenced first to make sure they are a member. It was fairly common for aspiring Nazi's to discover they had Jewish blood in their family trees.
P.S. If you do get your DNA sequenced, also remember you are making a decision for all of your relatives and descendents to expose their genetic history too.
@de_machina
"Not to mention the next time a nationalist socialist regime takes power they will have a really easy time identifying the people they want to put in the concentration camps."
We don't need a DNA profile, you cretin.
We have already pre-sorted them and deposited them into
government housing projects. We also know where they live, because that
information is linked to the receipt of welfare checks. Computers
and databases will make it easy this time, just as in the 1930s.
With the introduction of next-generation sequencing, the costs have actually dropped much faster than you'd predict if it followed Moore's Law. If it's possible to keep that pace up, then we can expect a $1000 genome in 2014-2015, and a $100 dollar genome two or three years later. My guess is that within 10-20 years we could see the widespread use of genetic screening of embryos for genetic diseases. Right now, this all seems very sci-fi. Like something out of Brave New World, Gattaca, or the Eugenics Wars in Star Trek. But unlike a lot of sci-fi, this stuff isn't fictional because it's technologically difficult/impossible, like a faster than light drive, or a flying car. It's sci-fi because it's too expensive to do right now, but that's going to change rapidly within our lifetimes. The development of tests for Down's Syndrome has already led to a dramatic reduction in the number of children born with the condition, it only follows that the development of new tests will have similar effects with other disorders.
This raises a lot of very thorny questions. Say a fetus tests positive for a mutation that is strongly associated with early-onset Alzheimer's disease. What's the moral choice? Is it moral to abort the fetus and spare them and their loved ones the suffering of Alzheimer's? Or would having that life be better than never being born at all? Or would you be willing to take the bet that in the next 30 to 60 years, they develop the therapies to cure or prevent the disease?
It gets more complicated. What if the fetus tested positive for a gene associated with schizophrenia? It might seem cruel to bring someone into the world knowing that's what they had to face. But this is where the story of genetic determinism put forward by modern medicine breaks down. Schizophrenia has a genetic component, true. What's remarkable is that among identical twins (100% shared DNA) the disease is found in both twins less than 50% of the time. Clearly, there's a very strong environmental component (another striking thing that backs this up is that schizophrenia rates are significantly higher in developed countries than in developing countries). Getting these genes makes you vulnerable, true, but there's a better-than-even chance you won't develop the disease at all. Is a less than 50% chance of developing schizophrenia enough to abort a fetus over?
The issues raised by gene sequencing have been pretty hypothetical up until now. It was too expensive and difficult to look at what genetic cards you'd been dealt. But that's going to change.
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.
You're confusing evolution with natural selection. Natural selection is just one mechanism by which evolution can occur.
You've got it backwards. The cost of materials for sequencing is dropping to $1k, but the data analysis (stitching together all of the short DNA reads to assemble a full genome sequence) still costs well in excess of $1k. For example, a 2011 Chemical and Engineering News article suggests that the cost of the analysis was still ~$100k.
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.
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make install -not war
Nazis don't care about the genetics. They care about scapegoating people powerless to fight back. And then using their example to terrorize each and any other group they construct as the next target. None are spared.
BTW "nationalist socialist" countries are everywhere. The US has always offered "socialism" (government enforced wealth redistribution) mainly to its richest, and is about the most nationalist country behind N Korea. The UK, Norway, Switzerland and many other European countries are pretty socialist, though more equitable in the wealth redistribution source/destination, and are so nationalist they refuse to join the EU. Japan is pretty nationalist, and more socialist than the US.
If you're going to scare people with "nazi", just say "nazi". Stop trying to scare people about socialism, as if the Nazi socialism was representative of socialism any more than East Germany's "People's Republic" represented its people. Nazism was founded on propaganda, and sympathetic propaganda outlets continue to peddle its slanders today.
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make install -not war
Current evolutionary theory (punctuated equalibrium) though holds that species are typically static in terms of evolution. You only get real change when new species pop up and old species die off. Natural selection does very little in stable populations of species. You might be tall, and you might mate with a tall member of the opposite sex, and your offspring might be taller than average, but they have a better chance of mating with someone of average or below height. Unless you get reproductive isolation, you're not going to get much directional change.
You're not getting advantageous change, but you're not going to get disadvantageous change either. It will likely be a wash, with no change in ANY direction.
What scares the shit out of me is the prospect of an artificial
womb. It would allow a country to select its best soldier, then
enhance his DNA and then, with artificial wombs, make
1,000,000 clones.
The first country to do that will have a huge military advantage, which
will led to other countries doing the same resulting in a clone arms
race.
I don't think it will take more than 50 years for the artificial womb to
be created. Will civilisation survive it?
I was all with you until you made the claim that we redistribute weath to the richest. You can badmouth them all you want, I prefer to hope to be one of them, and I know damn well if the top 10% pay 70% of the tax burdon (true) than the distribution of weath is not going in their favor
Ill say it again a "tax break" is NOT giving money to the rich, its simply taking less money from them
have you seen my sig? there are many others like it but none that are the same
and I know damn well if the top 10% pay 70% of the tax burdon (true) than the distribution of weath is not going in their favor
Without comparing how much wealth the top 10% have it is meaningless to suggest that because they pay 70% of the taxes that the distribution of wealth is not in their favor. Estimates I've seen show the top 10% having around 3/4 of the wealth so they pay 70% of the taxes and have 75% of the wealth. Or the bottom 90% have 25% of the wealth and pay 30% of the taxes.
That argument is nonsense. It is a standard talking point by the people waging this class warfare thing on the side of the rich.
Nearly everyone who works in this country pays payroll taxes which range from 10-12.5% since Regean jacked them in the 80's. Payroll taxes alone are nearly as high a percentage as the 15% rich people pay on capital gains.
Then there is sales tax, the lower classes spend most of their money, while the rich invest most of theirs so the poor once again pay a disproportionate burden of these which is why its called a regressive tax. The rich want even more sales taxes (aka Value Added Taxes(VAT's) because they regressively punish people who spend and give the rich a free pass
Payroll taxes used to be a couple percent before Reagan jacked them. Social security in particular started producing huge surpluses then that were used to fund Federal budget deficits for decades, in Reagans case to squander money on weapons that were never used. The so called "Trust fund" was completely squandered. To pay for social security and medicare now we either have to tax people some more, borrow it or slash benefits.
Most seniors who retired in before the 90's put almost nothing in to SS and Medicare and are getting windfall returns. People who started working in or after the 80's have been paying taxes through the nose for programs that will be bankrupt and probably gone by the time they retire. It has become a massively regressive tax on young working people to support often affluent seniors.
@de_machina
I hope for the day when we can get mobile kits that can be used for sequencing genome of all types of fauna / flora that are on this planet
At the way of the degradation of our planet's ecology, more and more species are dying out
If only someone can come out with el-cheapo gene sequence kits that are mobile, that can sequence genes of all types of flora / fauna, then, perhaps, we can collect the genetic sequence of as many species as we can possibly gather, before they disappear all together
Muchas Gracias, Señor Edward Snowden !
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 very specific things which are only present in the cancer. That is the revolution. That's what we need sequencing for.
But you are not taking into consideration 2 factors. Parents want a limited number of children (with exceptions). Parents for all intents and purposes have unlimited embryos (only limited by the number of ova the woman has). If sequencing can come down to under 100$ (who's to say it won't be next to free) then you supply 200 ova, enough sperm and you develop embryos in the lab.
Now when they have become a zygote you DNA sequence the lot to find the best (with least flaws/potential vulnerabilities) and then implant enough of them to get 1-2 successful children and the rest are discarded.
When it becomes wholesale, instead of on a case by case basis, it will become the norm and what is ethical will change to fall in line.
You might complain now about the 190 embryos that are discarded, but in 10-20 years time? Most people see Eugenics as a bad thing, partially because of the Nazis and partly because, right now, it is only in the realm of the super rich. But if you read the first line of the Wikipedia Article,
Eugenics is the "applied science or the bio-social movement which advocates the use of practices aimed at improving the genetic composition of a population"
Then you see, that there really isn't anything to be feared from using Science to produce the greatest success rates for our offspring. We do it for food, scientifically picking breeds of animals and plants to produce the best traits in offspring, and we subconsciously do it ourselves when selecting partners (how often have you looked at someone from a different race and considered him/her 'exotic'.) This is your body telling you that such a diverse pairing of very different DNA lineages would be greatly strengthening for your progeny.
If couples were able to go to a 'bank' and select embryos that had been paired together from extremely diverse and strengthening DNA lines, who's to say it isn't a much more efficient and ultimately acceptable way of producing the best human race?
The problem, you see, is that in the film Gattaca they differentiated between those who were and were not born with help. What happens when nobody is born without help? Or like the old line used to describe Picard's baldness (paraphrase: in the 22nd century they wouldn't have cured baldness, they just wouldn't care) would the Eugenically developed people be more benign? Would they, perhaps be more accepting of un-assisted people than we fear them to be?
You are going to get it, it's not a mater of if, but when. The sooner we get over it and move on to accepting it for the benefit it will provide and not for the loss to society it might entail (that early onset Alzheimer's child might cure cancer!!!) the better. We can instead produce fewer, more meaningful children, instead of relying on pot luck as we do now.
It's a numbers game, and we're on the brink of winning it.
another striking thing that backs this up is that schizophrenia rates are significantly higher in developed countries than in developing countries
a) How many people with schizophrenia would actually get to a doctor/professional to be diagnosed in poorer countries
b) How many would survive to adulthood and/or long enough to have children, etc?