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Genetic Information on Major Diseases Uncovered

gollum123 writes "A major advance in the genetic understanding behind several of the world's most common diseases is being reported by the BBC. A study tested some 17,000 people to find genetic markers for the various diseases. 'They found new genetic variants for depression, Crohn's disease, coronary heart disease, hypertension, rheumatoid arthritis and type 1 and 2 diabetes. The Wellcome Trust Case Control Consortium (WTCCC) involved 50 leading research groups analyzing the DNA from 2,000 patients for each of the seven conditions and 3,000 healthy volunteers. One of the most exciting finds was a previously unknown gene common to type 1 diabetes and Crohn's disease, a type of inflammatory bowel disorder, suggesting that they share similar biological pathways.' There is also disease by disease data at the BBC."

13 of 176 comments (clear)

  1. Spoiler alert! by Anonymous Coward · · Score: 5, Funny

            1 ggaggaggtg gaggaggagg gctgcttgag gaagtataag aatgaagttg tgaagctgag
           61 attcccctcc attgggaccg gagaaaccag gggagccccc cgggcagccg cgcgcccctt
          121 cccacggggc cctttactgc gccgcgcgcc cggcccccac ccctcgcagc accccgcgcc
          181 ccgcgccctc ccagccgggt ccagAcggag ccatggggcc ggagccgcag tgagcaccat
          241 ggagctggcg gccttgtgcc gctgggggct cctcctcgcc ctcttgcccc ccggagccgc
          301 gagcacccaa gtgtgcaccg gcacagacat gaagctgcgg ctccctgcca gtcccgagac

  2. Humanity be careful what you do with this.. by N3WBI3 · · Score: 3, Interesting
    Whenever there is a great leap forward in our understanding there are those who would turn to eugenics. In england a doctor performing sex selection abortion is now trying to get permission for a severe squint and has said he believes ever hair color is a fair reason to terminate a pregnancy (on the basis they might be mocked and that could cause them mental distress).

    Information, knowledge good! what we do with it, usually not so good.

    --
    1. Re:Humanity be careful what you do with this.. by plague3106 · · Score: 3, Interesting

      I'm sure that most level-headed people would agree that actually terminating a pregnancy due to very small unfavorable genetic traits such as those you mentioned is completely wrong.

      I would argue that most level-headed people would not be interfering with the private affairs of others, especially when what those others do does not affect them.

    2. Re:Humanity be careful what you do with this.. by Anonymous Coward · · Score: 4, Insightful

      I'm sure that most level-headed people would agree that actually terminating a pregnancy due to very small unfavorable genetic traits such as those you mentioned is completely wrong.

      So....why? Doesn't the freedom to choose whether or not to end a pregnancy include the freedom to choose to end it for any reason or no reason at all? If it's wrong to terminate for these reasons, what makes it okay to terminate for other reasons, or no reason at all?

      Posting anonymously because I just want you to think about this. I don't want to deal with a flood of flames.

  3. Good news, but... by ArcherB · · Score: 4, Insightful

    Can we expect (hope for) laws preventing this information being retrieved or considered when calculating insurance premiums or other times when this may lead to discrimination?

    --
    There is no "I disagree" mod for a reason. Flamebait, Troll, and Overrated are not substitutes.
  4. Welcomed News by Normal+Dan · · Score: 3, Insightful

    This is welcomed news for expecting parents. They can now potentially extract DNA from embryos to determine what diseases they are likely to have. With this technology, they could discard the bad ones and keep the good ones, thus producing healthy children. This may even help thrust forward our next step of evolution.

    Imagine a world full of healthy people. The cost of healthcare would reduce greatly, thus allowing us to spend more on education and furthering the advancement of the human race.

    --
    A unique way to learn a language: http://languageloom.com
  5. Who will have access to this information? by TripMaster+Monkey · · Score: 3, Insightful
    Sorry to have to inject the obligatory dystopian note into what should be a positive story, but that's just how my mind works.

    Who will have access to this information?
    • Law enforcement?
    • The Government?
    • Insurance companies?
    • Prospective employers?
    • (Etc....you get the point...)


    Some people fear that this information will be used to discriminate against disease-prone individuals in vivo...but it's far more likely that the first discrimination will happen long after birth.
    --
    ____

    ~ |rip/\/\aster /\/\onkey

  6. Now everyone has a pre-existing condition by dpbsmith · · Score: 4, Insightful

    Welcome to the brave new world, where everyone has a pre-existing condition.

    The good news is, you'll have knowledge that could extend your life or even save it, if you could get treatment.

    The bad news is, in countries with profit-based free-market medical insurance, you won't be to afford that get that treatment, because insurance companies will jack up their premiums when they find out about you.

    Everyone has seen this coming for decades. Now it's here. I don't think the United States is ready for it.

    1. Re:Now everyone has a pre-existing condition by vorpal22 · · Score: 3, Interesting

      Why is it that people expect premium health care when they can't afford premium food, cars, clothes, or a big-screen TV?

      Nobody needs premium food, cars, clothes, or entertainment. If you can afford it, enjoy it, but you can certainly live your life without it.

      In my opinion, everyone should have access to the best health care possible, however: this is not only in the best interests of the individual, but in the best interests of society, where a healthy population is more productive, happy, and indicative of the success of your country. Why should the rich have better medical benefits granted unto them? Is a CEO of a major corporation who rakes in hundreds of millions of dollars a year more important than a researcher who is paid much, much less but makes important contributions to medicine, and thus entitled to a prompter, higher quality of treatment?

      The US attitude that you should be able to buy better medical care baffles my mind. Then again, I'm a Canadian, so I was raised with an entirely different mentality. Furthermore, I have Crohn's Disease and am currently seriously ill (I have been for a few months as my doctors try to figure out a treatment that functions for me). With constant fevers of 101 F+ and crippling pain, I am for now unable to work: fortunately, I don't have the added stress of medical bills or even the worry that I could be completely denied treatment because of no group insurance coverage. There is no insurance company that would willingly agree to take me on as a client as my medications cost about $400 / month, and some Crohn's patients run up around $100k / year for a disease whose cause is largely unknown and is thus completely out of our control.

  7. Replication of Results? by dorpus · · Score: 3, Informative

    Speaking as a statistical genetics insider, I can tell you that the replication of results in this field is very poor. A team of scientists somewhere will announce they found a gene for XYZ, which is reported in scientific journals and mainstream media -- however, the findings fail to be replicated by other scientists, and the negative results are usually not published. Over the years, hundreds of scientists have claimed to find genes responsible for diabetes, hypertension, autism, etc.

    Since there are tens of thousands of genes in the genome, a study with 17,000 subjects makes for less than one subject per gene. (Exactly how many "genes" are in the genome anyway? What exactly defines a "gene"? That is another vast topic.)

    Statistically speaking, there should be at least ten subjects per covariate (gene) tested. There is a great deal of hoo-haa over microarrays, but the more you learn about microarrays, the more you will learn just how unreliable they are. The same "disease" can have vastly different pathophysiologies and genetic origins across population groups. Epigenetics, penetrance, expressivity, intron effects -- all multiply the complexity exponentially.

    In short, genetics is to biology what nuclear fusion is to physics -- a promising technology that will remain a "few years away" for decades to come.

  8. Re:Definition of discrimination? by JesseMcDonald · · Score: 3, Insightful

    Is it to our long-term interests to force insurers to operate in ignorance?

    isnt that the point of insurance? if insurance companies knew with 100% accuracy how much they're going to have to shell out for you, then they're going to charge at least that much, and then there's no point in getting insurance.

    The purpose of insurance is to mitigate unknown, future risk. Anything that can be used to reduce the present uncertainty in the risk is a perfectly reasonably factor in determining premiums. Insurance is a way of trading future risk for present cost within a given risk-class equivilency group. It works best when the risk classes are finely divided; in other words, when the premiums paid reflect the best known estimate of the individual insuree's risk.

    If you were to force the insurance agency to charge a single premium, ignoring individual risk factors, then those who know they have less risk will find the premiums excessive and choose not to participate. As a result the premiums would have to be increased, and yet more marginal customers would leave. In the end you'd be left with just the highest-risk customer(s) paying a premium appropriate to their level of risk. All "non-discriminatory" insurance really does is make it impossible to get low-risk insurance.

    As for the specific problem of being born with an expensive genetic issue, I think there is a way to leverage insurance here as well: the parents can take out an insurance policy on the child prior to conception, based on their own genetic risk factors.

    --
    "The state is that great fiction by which everyone tries to live at the expense of everyone else." - Bastiat
  9. Re:Definition of discrimination? by brunascle · · Score: 4, Insightful

    If you were to force the insurance agency to charge a single premium, ignoring individual risk factors, then those who know they have less risk will find the premiums excessive and choose not to participate.
    that's assuming that someone who believes they will pay more for insurance than will get out of it wont sign up, which is clearly not the case. the average person pays more than they get from it, otherwise the insurance companies would go out of business.

    the average person is paying about average healthcare. you're probably paying close to average. if you believed you were low risk, would you opt-out? i wouldnt.
  10. So what is the downside? by VE3OGG · · Score: 3, Insightful

    Now this is something I have thought about long and hard (though no hard research to back it up) about. WHat happens when we do get the power to *poof* the bad genes out of existance from an unborn infant? Well, obviously they won't develop "problem A", but what about other factors? For instance, I know that black people in regions of Africa are born with sickle-cell anemia, but this also helps prevent a certain disease commonly transported by insects in the region. How do we know what (if any) other things might depend on that particular gene?

    And on that note, someone mentioned that this may well lead us to our next step in evolution -- that may well be true, but shouldn't evolution happen in response to natural factors by nature's invisible hand? Not some doc in a lab? I mean, so many people on Slashdot are keen on letting the "ivisible hand of capitalism" work the market, why shouldn't we let nature decide what is best for us?

    I believe this sort of thing was covered with the Asgaard in Stargate SG-1, they died out because they genetically modified their bodies past a certain point where they could no longer reproduce, only extend their own lives. Now, I am not saying there is any scientific basis for something liek that happening, but aren't parables supposed to make you at least think before acting?