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A UK project aims to sequence the entire genomes of 100,000 individuals and make the data available online. This information could be EXTREMELY useful for studying all sorts of studies of genetic diseases, genetic predispositions, etc.

Also, let me step back a moment and say one thing about scientific progress (other than it goes "Boink"...or am I dating myself there?): I have witnessed and participated in an enormous leap forward in genetic analysis during my scientific career. I started right when the sequencing of DNA became relatively easy with the introduction of an enzyme called "Sequenase." Prior to that there had already been a leap from "chemical sequencing" (which used nasty chemicals including a type of rocket fuel to hammer away at the DNA) to an enzymatic method called "Sanger sequencing" which has been the basis ever since. Sequenase made the Sanger method easier by modifying the enzyme used. My Ph.D. dissertation was substantially based on my becoming a great expert at Sanger sequencing, sequencing several genes and "cDNAs" with my own hands and eyes, and being able to get more sequence no matter how difficult the DNA template than almost anyone else.

All that expertise is LONG outdated. No one does their own sequencing. Massive advancements in the technique (though still fundamentally the Sanger method) and automation means you send out the gene you are studying to a company that does it for you for something like $5 a pop. There goes all that expertise I developed as a grad student! (It's okay...I have developed other expertise).

Then came the Human Genome Project. This was HUGELY debated at the time. At the time it was proposed many, myself to some degree included, thought it would be impossible to complete within anyone's lifetime. I thought it was worth starting, but I never thought I'd see it finished. The idea, back then, of being able to sequence the ENTIRE genome of a species seemed too good to be true. We were assured by the folks that wanted to do it that the very project itself, and the competition/cooperation among labs to complete it, would drive the technology that would ALLOW it to be completed. I was, to say the least, HIGHLY skeptical of what these people who wanted large grants to do the impossible were telling us. But I also didn't completely oppose it because sometimes aiming for the impossible DOES make it possible (obvious reference to a particular JFK speech whose fulfillment he never got to see does come to mind).

Well, the Human Genome Project succeeded. As did the genome projects of MANY other eukaryotic, prokaryotic, and archaeal (the REAL three Kingdoms of Life in my book!) organisms.

But wait...there's more. Further leaps in technology have made DNA sequencing so easy, so cheap and so routine that now the sequencing of the entire genome of an individual organism, be it a worm, a fly, a mouse...or you and me is now within reach. The cost is still a bit high, but coming down fast, and it is now cheap enough that labs I know are already sending out the DNA from multiple individuals to compare differences.

Right now, YOU can get YOUR entire genome sequenced. We have come a long, long way from my grad school days (which of course dates me even more than my Calvin and Hobbes reference above).

See below for the REALLY REALLY REALLY COOL SCIENCE and how you can be part of it.

In the UK scientists have initiated a project to sequence the entire genomes of 100,000 INDIVIDUAL people around the world and to make the full data available online for ANYONE who wants to see it, use it, study it. This would be a huge resource for the study of who we are, what determines our health, and just about anything else you can think of having to do with being human. Furthermore, if smaller versions of this are done with other species, the boundaries between species (compared with variation within a species) can be better understood.

From BBC News:

Scientists are looking for 100,000 volunteers prepared to have their DNA sequenced and published online for anyone to look at.

The UK Personal Genome Project could provide a massive free tool for scientists to further understanding of disease and human genetics.

Participants will get an analysis of their DNA, but so will the rest of the world, and anonymity is not guaranteed...

A deeper understanding of Alzheimer's disease is emerging by looking for differences in the DNA of people with and without the disease.

Prof George Church, who runs the US version of the project, said analysing 100,000 genomes could lead to advances in common diseases such as diabetes.

He said: "We're finding more and more of these common diseases are a collection of rare diseases.

"Cancer used to be a disease, then it broke up into lots of different diseases by tissue, then lots of sub-categories based on the genes that are impacted, so now it's thousands of diseases."

Participants will have to pass tests to prove they fully understand the risks of making their genetic identities freely available for the world to use before taking part.

More about the project here.

To sign up to participate in the UK, go here. (NOTE: I think ANYONE can sign up from this site...just ignore the part that says "UK only" and they ask for where you are...UK is just the default.)

To sign up to participate in the US, go here.

To sign up to participate in Canada, go here.

More sign-ups to come. Check back here for other places.

NOTE: It looks like all sites lead to the UK sign up, which tells you only UK residents can apply. THIS IS NOT TRUE. Ignore that and sign up from anywhere in the world, from Afghanistan to Zimbabwe, and you will get into their database of volunteers. My guess is eventually they will contact you whenever they are ready for that geographical location.

I already put in my name to be a participant.

A caveat...and no I am not concerned with the usual bugaboos about human genome things. This has more to do with the sampling problems with this kind of study.

Bottom line is, this kind of study, unless the researchers go to great lengths to do outreach, will basically mostly be studying educated white genomes. When amazing scientific studies rely on volunteers it is mostly educated whites (and mostly educated URBAN whites) who respond. The fact that at the moment only the UK, US and Canadian versions of the website are up at the moment with two European sites coming next followed by South America and Asia "in development" exacerbates this issue. And no African site even in development?? To be fair, if they want to have a broad sampling across the globe, websites aren't as important as personal outreach, so maybe they have this covered and it just isn't obvious from their website. But to me, for people who want to use this to study human evolution and migrations, a good foundation of genomes from Africa would be critical. Of course to some degree participation from DIVERSE communities within the US, UK, and Canada would supply some of the diversity that I would like to see in this kind of study...but even that might take some real outreach.

But with that caveat in mind, BOY does this project excite me and I sure hope I get to participate! I urge you to participate as well. The more the merrier...and more scientifically accurate and useful.

Originally posted to mole333 on Thu Nov 07, 2013 at 05:48 AM PST.

Also republished by SciTech.

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Comment Preferences

  •  this looks fun. (4+ / 0-)

    i want to play!

    Dawkins is to atheism as Rand is to personal responsibility- LutherCEO

    by terrypinder on Thu Nov 07, 2013 at 06:03:54 AM PST

  •  Educated urban white here (2+ / 0-)
    Recommended by:
    mole333, Aunt Pat

    I guess you've already got plenty of those.

    •  They probably do... (1+ / 0-)
      Recommended by:
      Aunt Pat

      But I suggest signing up anyway.

      FREEDOM ISN'T FREE: That's why we pay taxes!

      by mole333 on Thu Nov 07, 2013 at 06:11:14 AM PST

      [ Parent ]

    •  there are lots of different kinds of white (1+ / 0-)
      Recommended by:
      mole333

      people.

      and you may not be as white as you think you are.

      To put the torture behind us is, inevitably, to put it in front of us.

      by UntimelyRippd on Thu Nov 07, 2013 at 06:37:32 AM PST

      [ Parent ]

      •  Well, there is that splash of Native American (1+ / 0-)
        Recommended by:
        mole333

        blood.

        I'd kinda like to know more about that, but the woman was nameless in our family tree, not even a tribe identified.

        Would the study help identify that for me?

        •  Hard to say. (1+ / 0-)
          Recommended by:
          mole333

          It's one thing to have the data, it's something else to have the comparative analysis, & I don't know what sort of analysis is going to be

          Also, if the woman in question was farther back than your great great great grandmother, you've got at best about a 50/50 chance of having inherited even one chromosome from her -- and if not, you're hunting for genes that "crossed over" from one of her chromosomes onto one belonging to another ancestor.

          Unless, of course, she's your ancestor in the strictly maternal line, in which case you've got her mitochondrial DNA.

          To put the torture behind us is, inevitably, to put it in front of us.

          by UntimelyRippd on Thu Nov 07, 2013 at 09:11:27 AM PST

          [ Parent ]

  •  I signed up a year ago. (4+ / 0-)

    I still haven't been contacted.

    I think they have done all the sequencing they can afford for random individuals and are focusing their resources on carefully targeted groups. When I last looked that included very old people with living descendants willing to enroll.

    They also would love to have people who have had their genomes sequenced already. I will probably do this as soon as the price drops to around $1K, which should happen in a year or two.

    I don't want to be too negative: I agree with mole333 that this is incredibly cool. We have had the (more or less) complete human genome sequence for a decade now, but the main benefits have yet to be realized. Everyone shares most of the 3 billion bases, but we each still have several million variants which make us unique. Many of those are found in no other human. And out of all those variants in all the human population, we know the affects of a few thousand.

    I had a discussion with one of my doctors a few days ago about my response to blood thinners. We know I have at least one genetic mutation that affects blood clotting and he guessed that I had another that affects how I metabolize coumadin. He said that in a few years he will be able to predict in advance those affects and prescribe the optimal drug and dose without going through a long trial and error process. To take it one step further, I would not have been hospitalized with blood clots after surgery, because they would have known in advance that I was at risk and would have taken precautions to prevent them.

    Even the simplest health care would be impacted. Different people respond very differently to different pain relievers: aspirin, ibuprofen, naproxen, etc. (NSAIDs, for the cognoscenti). Ibuprofen works like a charm for me and naproxen does nothing- but you might be the exact opposite. That is due to genetic differences in our CoxA genes and should be totally predictable once we get data to analyze. So my doctor might tell me to take two ibuprofen and call her in the morning, but yours would say two naproxen.

    •  There is a "relatively" inexpensive test for (3+ / 0-)

      the coumadin non-metabolizing SNP.

      It's an interesting sidenote that whole genome sequencing probably violates dozens, if not hundreds, if not thousands of patents on processes that "detect" specific genes or gene mutations. I'm still trying to figure out just how these have been affected by the Myriad case.

      To put the torture behind us is, inevitably, to put it in front of us.

      by UntimelyRippd on Thu Nov 07, 2013 at 06:41:10 AM PST

      [ Parent ]

    •  Benefits of whole genome projects... (1+ / 0-)
      Recommended by:
      Andrew F Cockburn

      Just to quibble a bit...the benefits of the human genome projects and the many other species genome projects have been huge. My Ph.D. work would have taken months rather than years (which means I would have had to take the project a lot further to get my PhD) of we had some species-level whole genome sequences available (rabbit or human in particular). For my current field the pace of going from a mutant phenotype to a mutation in a gene causing that is enormously quicker thanks to the fact the worm genome is sequenced. I'd say these kinds of genome projects can speed te pace of research 5-10 fold.

      But you do say "main" benefits. And as you pretty much outline in the rest of your comment, to get to those main benefits (read: health benefits) you really need the impossible task of sequencing each individual's genome...oh wait! It isn't impossible! It is on the cusp of routine!

      FREEDOM ISN'T FREE: That's why we pay taxes! Find me on Linkedin.

      by mole333 on Thu Nov 07, 2013 at 08:42:24 AM PST

      [ Parent ]

  •  I keep hoping for good news from (2+ / 0-)
    Recommended by:
    terrypinder, mole333

    these guys. They have one of the coolest sequencing technologies ever in ever, if they can get it to market with the error rates under control.

    To put the torture behind us is, inevitably, to put it in front of us.

    by UntimelyRippd on Thu Nov 07, 2013 at 06:43:52 AM PST

  •  The really cool thing about this is (1+ / 0-)
    Recommended by:
    mole333

    I believe they will be correlating the genome data with the NHS's huge medical records set.

    Having a single organisation owning the cradle to grave medical records for most of 60 million plus people is an enormous and hugely valuable resource that the british government is hoping to commercialise.

    Mitt Romney, wasn't good enough to beat the guy that wasn't good enough to beat George W. Bush .

    by ewan husarmee on Thu Nov 07, 2013 at 07:16:49 AM PST

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