View Poll Results: Do you want your genic code sequenced/read?

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  • Yes

    13 65.00%
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  1. #1
    I am that guy RandomGuy's Avatar
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    The gentleman in this newstory says that having your ENTIRE genetic code sequenced will be possible within a few years. Your genetic code can then be compared to a database that sums up everything we know about the effects of various genes, i.e. this gene predisposes you to this kind of cancer, this other gene means that certain drugs work better for you, etc.

    You will have the choice to know all of this in pretty short order. What do you want to do with that info? What implications does that have for our society?

    Genome Seen As Medical Crystal Ball
    by Richard Knox
    Stanford scientist Steve Quake was only the fifth person in the world to have his entire genetic code -– his genome — spelled out last summer. Now he claims to be the first to use it to find out just what diseases he's at risk for, and what he should do about it.

    It's been an instructive exercise. He and his colleagues say it holds many lessons for how to handle the flood of genomic information that's on the horizon.

    "I think the information can help people live better, but it won't do it all by itself," says Hank Greely, a Stanford ethicist involved with the project. "Just dumping data on people will not lead to better results."

    Figuring out the medically useful messages in Quake's genome involved several dozen specialists. The project and its implications are laid out in two articles published by the scientific journal Lancet.

    Quake says it began with an e-mail he got from George Church, a Harvard researcher, after Quake's genetic sequence appeared in Nature Biotechnology last August.

    Church was writing software that aimed to pull together everything known about which genetic mutations are linked to what diseases.

    "He offered to run it on my genome," Quake says. When he started combing through the results, the Stanford bioengineer says, "Rare mutations related to heart disease started cropping up. That's when I called [Dr.] Euan" Ashley, a Stanford cardiologist with an interest in the genetics of heart disease.

    As it happened, Ashley's group had been thinking about what they would do if a patient walked in with a report detailing his entire genome.

    "It's going to happen sooner or later," Ashley says, "and we felt that somebody should take a crack at it, and it probably should be us."

    Ashely says he was struck right away when he learned that Quake had a first cousin once removed who had died mysteriously at age 19.

    "We were interested in looking at his genome to see if there were any clues," Ashley says. "We did find mutations in genes that are associated with conditions that can cause sudden death."

    Quake has staked his career on making just this kind of information easy to get. But he says knowing his family history was an entirely different thing from being told that he has a mutation associated with a potentially fatal disease.

    "You know, the chance of dying is 100 percent, it's just a question of how and when, right?" Quake says. "I think this sort of points to an interesting thing about personal genomes. You have to have a bit of a strong stomach for it."

    That's because much of the news you get is bad. For instance, there's not a lot you can do about mutations linked to sudden cardiac death –- except get checked out from time to time so doctors can look for any ominous changes in your heart.

    A thorough physical exam on Quake, who is 40 and athletic, turned up no heart problems. He says he'll get those periodic echocardiograms, ultrasonograms and stress tests.



    Norbert von der Groeben/Stanford School of Medicine Stephen Quake (left) and Euan Ashley in the lab together.
    Sometimes, however, genes yield up information you can do something about. For example, Quake turns out to have a higher genetic risk of getting coronary artery disease. But he also has a gene that means he'd be especially responsive to cholesterol-lowering drugs called statins.

    "He has variants to suggest he would likely have benefit from this medication and that he would be less likely than other patients to have adverse effects from the medication," Ashley says. So Ashley has urged Quake to start taking a statin, even though conventional guidelines don't put him in that category.

    But giving Quake this genetic information doesn't mean he'll act on it.

    "In point of fact, I have not yet started on the statins," Quake says with a laugh that's somewhere between sheepish and defiant. "I'm still thinking about it."

    Another case-in-point: Quake carries a mutation that gives him extra protection against a heart attack if he takes a baby aspirin every day. Ashley has urged him to do that, but Quake hasn't gotten around to it yet.

    "I'll go home and buy a bottle tonight," he says, laughing.

    The most useful messages in Quake's genome, he says, come from a collection of 69 gene variants related to how different drugs are metabolized.

    For instance, that shows Quake would not respond well to clopidogrel, an anti-clotting agent that is often prescribed for patients with coronary artery stents, to prevent them from clogging up. So now his doctors know that if he ever needs a stent, they'd need to use higher doses of clopidogrel or they could try other drugs.

    The list of drug-related gene variants "is incredibly useful," Quake says. "The next time I'm in a situation where a doctor prescribes a drug, I now have the inside track to understand how well that drug's going to work with me and whether there's going to be side effects or not."

    But ethicist Greely says Quake's experience raises many difficult issues about the future of this new personalized medicine. That's largely because so little is known about the meaning of the genetic variations lurking in Quake's -– or any patient's -– genome.

    But it also involves issues of who's going to interpret what is known. "North America has only about 2,500 genetic counselors and 1,100 clinical geneticists," Greely notes. "We were floored as we began to think seriously about how complicated it's going to be."

    Everybody carries dozens of gene variants linked to diseases to one degree or another.

    "There are 100 or 120 different genetic risks that one would like to talk about with Steve — or with any patient," Greely says. "We started multiplying that by two or three minutes per risk and ended up looking at five hours of genetic counseling. What's going to do that? Who's going to listen to it? Who's going to understand it? And who's going to pay for it?"

    Greely says he hopes there will be at least five years to work out some of these issues. But Quake says genome sequencing is going to be widely available sooner than that. Last summer, it cost about $48,000 to sequence his genome -– down from $300 million for the very first human genome sequence in 2003. Right now, he says the cost is down to $24,000.

    And within three years, Quake predicts, getting your entire genome sequenced will cost about as much as an ordinary MRI.

    -------------------------------------
    Yet another interesting story from NPR.

    http://www.npr.org/templates/story/s...ryId=126396839
    Last edited by RandomGuy; 05-12-2010 at 11:59 AM.

  2. #2
    I can live with it JoeChalupa's Avatar
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    I've seen this and for me....no. I already know I am not going to live forever.

  3. #3
    i hunt fenced animals clambake's Avatar
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    that guy has a huge forehead!

  4. #4
    Spurs Nation
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    I would be interested in having my dna/genes analyzed mainly for 2 reasons: 1) family tracing (genealogy), knowing from whom/where I descended; and 2) if I were gonna have a kid, I would want to know if I had some type of bad gene that could be passed on. If I did then I would perhaps consider adopting a kid from some other country. I don't really care much about the medical benefits, I figure that if I make it to 50 years I had a good run.

  5. #5
    I am that guy RandomGuy's Avatar
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    I would be interested in having my dna/genes analyzed mainly for 2 reasons: 1) family tracing (genealogy), knowing from whom/where I descended; and 2) if I were gonna have a kid, I would want to know if I had some type of bad gene that could be passed on. If I did then I would perhaps consider adopting a kid from some other country. I don't really care much about the medical benefits, I figure that if I make it to 50 years I had a good run.
    +1

    I think knowing is better than not.

    Although as the guy noted in the article, there are so many risk factors known, that it would literally take hours to read and discuss them all.

    Yikes.

  6. #6
    Linger Ficking Good! CuckingFunt's Avatar
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    Gattaca is a good movie. Don't know that I want it to be real life, though.

  7. #7
    Eh, Fuck It. easjer's Avatar
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    I'm not sure.

    I don't think we really know enough yet about the implications of all of this, or in what ways genetics can be combated. So you have a predisposition to heart disease. You can eat a heart healthy diet, but we don't know yet how much genetics plays a role vs. diet/exercise.

    I can see the applications in terms of trying to conceive (just thinking about subjects I know). I had karyotyping done after we lost Gabriel to check for translocations (and had we any sense that any of our losses were genetic in origin, SFIE would have this done as well, but since genetics haven't yet been an issue, they just threw that into the bloodwork for fun. What's 1 more vial when you're giving 15 already?). No translocations, but another test picked up a genetic mutation that may contribute to implantation difficulties and early miscarriages (but research and the reproductive community are split on that - MTHFR if you are curious).

    I can see the practical applications of this in that regard - finding problems prior to multiple miscarriages, learning in advance if a procedure like IVF w/ PGD would be the best chance for a viable pregnancy and not having to waste years and money on other procedures and probably losses before then . . .

  8. #8
    Banned
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    Genetic background checks for employment, marriage, job promotions.

  9. #9
    I am that guy RandomGuy's Avatar
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    Gattaca is a good movie. Don't know that I want it to be real life, though.
    Didja know that the word "Gattaca" is composed entirely of letters used to describe the base molecules that form the basis for DNA?

    Guanine, Adenine, Thymine, and Cytosine.

  10. #10
    I am that guy RandomGuy's Avatar
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    Genetic background checks for employment, marriage, job promotions.
    Interesting ethical quandry we have opened up.

    Do you want someone with a lot of markers indicating potential for mental illness manning our nuclear weapons silos?

    Teaching our kids?

    Being cops?

    Do we base insurance premiums on this information?

  11. #11
    I can live with it JoeChalupa's Avatar
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    Interesting ethical quandry we have opened up.

    Do you want someone with a lot of markers indicating potential for mental illness manning our nuclear weapons silos?

    Teaching our kids?

    Being cops?

    Do we base insurance premiums on this information?
    +1 gene profiling? Are we seeking to create "perfect" human beings?

  12. #12
    I can live with it JoeChalupa's Avatar
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    that guy has a huge forehead!

  13. #13
    Banned
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    If a company can protect their money, nothing is out of bounds.

  14. #14
    I can live with it JoeChalupa's Avatar
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    If a company can protect their money, nothing is out of bounds.
    yup, I concur.

  15. #15
    I am that guy RandomGuy's Avatar
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    I'm not sure.

    I don't think we really know enough yet about the implications of all of this, or in what ways genetics can be combated. So you have a predisposition to heart disease. You can eat a heart healthy diet, but we don't know yet how much genetics plays a role vs. diet/exercise.

    I can see the applications in terms of trying to conceive (just thinking about subjects I know). I had karyotyping done after we lost Gabriel to check for translocations (and had we any sense that any of our losses were genetic in origin, SFIE would have this done as well, but since genetics haven't yet been an issue, they just threw that into the bloodwork for fun. What's 1 more vial when you're giving 15 already?). No translocations, but another test picked up a genetic mutation that may contribute to implantation difficulties and early miscarriages (but research and the reproductive community are split on that - MTHFR if you are curious).

    I can see the practical applications of this in that regard - finding problems prior to multiple miscarriages, learning in advance if a procedure like IVF w/ PGD would be the best chance for a viable pregnancy and not having to waste years and money on other procedures and probably losses before then . . .
    Another good point. Such things could be "fixed".

    Scientists studying the effects of various genes and their presence/absence were using a fairly simple worm to examine aging.

    They turned off ONE minor gene and increased the lifespan of the worm by a factor of six, if memory serves.

    Couldn't find the exact printed article but here is a bit where you can listen:

    http://www.npr.org/templates/story/s...toryId=1258582

  16. #16
    I am that guy RandomGuy's Avatar
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    +1 gene profiling? Are we seeking to create "perfect" human beings?
    Good question.

    We already know that in some cultures girls are heavily selected against. It is one of the reasons that the Chinese population is the fastest aging group on the planet in terms of average age, meaning that the birth rate is well below replacement level.

    I am not personally sure that gene profiling is a good thing, but I can see the applications, as I noted.

    We are pretty much going to be forced to address how genetic information is going to be used.

  17. #17
    Believe. slacker77's Avatar
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    Gattaca is a good movie. Don't know that I want it to be real life, though.
    That movie was the first thing that came to mind.In particular,that scene in the delivery room.

  18. #18
    License to Lillard tlongII's Avatar
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    Yes definitely. I'm always in favor of more information.

  19. #19
    Displaced 101A's Avatar
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    A small piece of what is described here, but relevant, IMO.

    There's a form of muscular dystrophy that runs in my family; my grandfather began showing symptoms when he was in his early forties; from a cane to a walker to a wheelchair to bedridden - eventually died at 73;

    In the mid nineties they isolated the gene and offered to test all of his descendants to see if we had it/would get it. I had the choice, and took it - I don't have the gene. My younger brother on the other hand (now 37), DOES have it) - I think both of us are glad we know - anxiously waiting to see if he is going to start showing signs.

  20. #20
    I am that guy RandomGuy's Avatar
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    A small piece of what is described here, but relevant, IMO.

    There's a form of muscular dystrophy that runs in my family; my grandfather began showing symptoms when he was in his early forties; from a cane to a walker to a wheelchair to bedridden - eventually died at 73;

    In the mid nineties they isolated the gene and offered to test all of his descendants to see if we had it/would get it. I had the choice, and took it - I don't have the gene. My younger brother on the other hand (now 37), DOES have it) - I think both of us are glad we know - anxiously waiting to see if he is going to start showing signs.
    Very relevant, and interesting. Thanks for the anecdote. 1st hand information always provides good context for issues like this.

    Would you want you or your brother's health insurance premiums to reflect that?

  21. #21
    Eh, Fuck It. easjer's Avatar
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    Would you want you or your brother's health insurance premiums to reflect that?
    Now that is an interesting question.

    Because having a gene may or may not result in something. Take being fat, for example. I am fat. Suppose we find out that I have a genetic pre-disposition to gaining and storing more fat. There isn't necessarily anything that can be done to turn the gene off, so my children who inherit this gene will have to be especially careful about regular exercise and avoiding over-indulgence.

    Should they be required to show proof of exercising 4 days a week to avoid a higher premium than a person who doesn't have the 'fat gene'?

    But the person without the fat gene may weigh more and may gain more weight through poor lifestyle choices. Should that person have to pay more than my child who has the fat gene?

    It's times like this that universal healthcare begins to have a remote appeal.

  22. #22
    Eh, Fuck It. easjer's Avatar
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    Additionally, there is simply SO much that can't be told by genes. What if you don't have a genetic predisposition to storing fat, but you do have a genetic predisposition to slow metabolism and/or over-eating?

    I don't think mapping an individual's genome will account for all variables and an outside company or the gov't making decisions based on that is something I would be opposed to. An individual using that information in conjunction with their doctors is a different story and potentially beneficial to a patient, but I doubt that level of specificity will be widely available and affordable in the next decade.

    Nature vs. nurture won't be solved by mapping the genome, I don't think.

  23. #23
    CDs Nuts. resistanze's Avatar
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    Additionally, there is simply SO much that can't be told by genes. What if you don't have a genetic predisposition to storing fat, but you do have a genetic predisposition to slow metabolism and/or over-eating?

    I don't think mapping an individual's genome will account for all variables and an outside company or the gov't making decisions based on that is something I would be opposed to. An individual using that information in conjunction with their doctors is a different story and potentially beneficial to a patient, but I doubt that level of specificity will be widely available and affordable in the next decade.

    Nature vs. nurture won't be solved by mapping the genome, I don't think.
    Hit the nail on the head. Mass screening of everyone genome simply doesn't give us meaningful information in this day and age, as surprising as it may seem. There are really only a handful of illnesses that can be assessed with genetic consuelling (Huntington's, Fragile X syndrome, etc). Most genetic disease with a family history are routinely screened already for family members.

    Simply getting a list of two dozen genes that are may be mildly associated with disorders from say, schizophrenia to cancer, is not really helpful for individuals.

    1) We have not identified the majority of genes that are involved in disease
    2) We do not know the extent to which identified genes play a role in disease or interact with other undiscovered genes or with the environment.

    Those are my main concerns. I don't even think we're not even at a stage where we can even potentially begin to use genetic information to discriminate individuals in society (which of course, is another ethical concern).

  24. #24
    Veteran
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    Gene modification: yay or nay?

  25. #25
    bandwagon hater
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    Gene modification: yay or nay?
    Id volunteer if it could be done on me now at 30 years old.

    Dont get me wrong, Im not afraid of death ( , I skydive, race cars at the track, smoke cigarettes, drink lots of alcohol and generally do many other things that are obviously dangerous) but, unlike most people, I wouldnt mind living a few hundred years just because I really want to know whats in store for us as a species in the future.

    I have no qualms about outliving the people I love and, , no ammount of gene modification is going to guarantee immortality anyway. Odds are eventually I would run into a situation that would end my life.

    I say bring it on.

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