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The 1000 Genomes Project
jd writes "An international consortium of specialists in genetics has announced the 1000 Genomes Project, in which at least 1,000 people from around the world will have their genomes fully sequenced as part of an effort to discover the relationship between genetics and disease. At present, over 100 regions of DNA are known to be related to illnesses, but the maps that exist are vague and are drawn from an extremely small population pool. According to the article, this results in the need for slow, expensive, and laborious studies to pinpoint causes, especially for rarer conditions. This project aims to find conditions that might only appear once in every 2,000 people (though how they intend to do that with half that number is unclear). The researchers hope to massively speed up the diagnosis of genetically linked illnesses and to improve the reliability of such diagnoses."
This project aims to find conditions that might only appear once in every 2,000 people (though how they intend to do that with half that number is unclear).
Well, they could sequence the DNA of people known to have rare diseases.
Libertarian Leaning Political Discussion Forum.
Let's try to make it clearer, then.
The probability that a given condition appears in an individual is 1 in 2000, or 0.0005. The probability that it does not appear in that individual is 0.9995. The probability that it does not appear in any of 1000 individuals is 0.9995^1000 = 0.6 approximately; and the probability that at least one of the 1000 individuals has it is 0.4. Not bad at all. (If you used 2000 people, the probability that at least one of them would have it would improve to about 0.6.)
Suppose you aren't interested in just one conditions, but in lots of conditions -- say, ten of them. The probability that at least one individual would have at least one of those conditions is 1 - 0.9995^(1000*10) = 0.993 == ie, practically certain.
They really ought to teach basic probability theory in schools...
Your post is like that scene in Indiana Jones with the guy making some really impressive sword moves, looking all menacing... while Indy just pulls out his revolver and shoots him. You could get a whole room full of geeks cranking numbers and arguing over how many people they would need to find in order to exceed a particular probability that any one participant has Lou Gehrig's disease, while a simpler person would leave the room, come back the next day, and say "Hey guys, meet my neighbor Bob... he has Lou Gehrig's."Want to improve your Karma? Instead of "Post Anonymously", try the "Post Humously" option.
they really ought to teach basic genetics in schools.
you neglect the fact that each person has two sets of genes, one inherited from their mother, the other from their father. that brings the total number of genes to 2000 sets. and it's also likely they're interested in many more than ten conditions. so you should think more in terms of a probability density function of conditions found versus their rarity.
Anyone reading up on the progress in genomics over the last decade has seen the huge leaps in speed and accuracy and the insane cuts in cost to work with nucleic acids.
From a lab level where what used to be a weeks work with lots of chemicals and processing is now usually a 20 minute protocol with a kit from Quagen. what used to be massive amounts of work with hundreds of gels and digestions and labeling steps to analyse nucleic acid sequences is now a few days with an affymetrix kit, giving far more accurate and useable results. Across every step this progress has been rapid.
And in the future, near-term like within a decade, all these methods will become outdated and replaced with near-realtime analysis and diagnosis. The best point in all of this is that no matter how advanced medical tech has become, the limiting factor has been that it's necessary to actually BRING your disease ridden body to the hospital or doctor. The rise of companies like www.decodeme.com is what i expect DNA assesment to be like in the future. You send off some samples you scrape off your cheek yourself, and within a few days you get a full diagnosis on any known predisposition to disease or genetic problems.
Which is why a lot more attention should be put into the debate on morality and genetic profiling. It's going to be here before you can blink, it might be nice to know what you think about using embryo selection to wipe out CF before it becomes a possibility.
It's sort of right. Usually the phenotype will be recessive - so two bad copies need exist for the condition to be seen but only one bad copy needs to exist for it to be a useful sequence. For example, although the frequency of cystic fibrosis in Caucasians is 1/400, but the allele frequency is 1/20. So you need to look at the square root which gives you much higher probability of a hit. (BTW, the frequency in Asians is I believe on the order of 1/500,000 so CF could be cured simply by outbreeding - and no - that never worked for me as a pickup line...)
Note, that you don't necessarily need to have a visible phenotype for the sequence to be useful. You might have a marker already from previous studies to allow you to identify a single bad copy.
There are other projects that sequence the DNA of people known to have rare diseases such as cystic fibrosis, and there are projects that sequence the DNA of people with common diseases like heart disease, but we don't know much about the variants in the middle that are neither very common nor very rare. This is an attempt to fill in that gap in our knowledge.
Human/Ranger/Zangband
What do we propose to do once we have genetic maps anyway? Scientists (especially within the drug industry) have no clue what they're doing - all we do is "best guess" diagnoses, and then pump people full of drugs that may or may not help, and that induce more serious side effects than they're supposed to be "helping".
This whole idea of "early detection" pisses me off; it just reminds me of the drug industry. It really does come down to the almighty human thinking they know what they're doing. Hopefully we find a genetic marker for depression... that way we can take 95% of people taking anti-depressants off their drugs for not actually having depression.
Every single other mammal on the planet survives without this bullshit; why can't we? Oh that's right, there's money to be made.