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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."

29 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

    1. Re:Spoiler alert! by TCQuad · · Score: 2, Funny

      Meanwhile, at the NCBI (home of the popular sequence identification algorithm BLAST), the entire programming team is trying to figure out why there's a sudden spike in searches for Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2.

  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.

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    1. Re:Humanity be careful what you do with this.. by N3WBI3 · · Score: 2, Insightful

      Abortion was probably a bad example for me to pick because it will, inevitably, cause contention over that and not the larger issue. A poster later put up insurance claims and other forms of discrimination there is no measure to the evil man can do with information evil takes little R&D and comes naturally to us. The benefits you talk about take extensive time to develop and implement.

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    2. 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.

    3. 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.

    4. Re:Humanity be careful what you do with this.. by mikewolf · · Score: 2, Interesting

      well, you can personally affect your driving record through your own actions. you cannot change your genetic makeup (yet), just like you can't change your parents... Insurance companies don't currently (and might not be legally able to) not insure you based on your family history of disease, although that can be a pretty legitimate way for them to estimate what your cost to them over your lifetime will be.

      The answer is really to not have private health care, b/c in reality it will always be in a corporation's interest to provide you the minimum amount of care to keep you healthy, charge you the most amount of money they can, and pay the least amount they can to the care provider. sometimes that means charging the consumer more than they need to pay, sometimes that means paying the doctors less than they charge, the point is that a profit driven health car system is not going to provide people with the best care, it will provide them with the most profitalble care... anyways, thats a little off topic...

  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 MightyYar · · Score: 2, Insightful

      If you were waiting for another reason to get rich, here it is!

      What do you mean we aren't ready for it? Today we have no cure for diabetes. If they invent the cure tomorrow, and insurance companies won't pay for it... no one is any worse off. Everyone complains about health care costs rising. Well, you know what? In the 50's when health care was apparently affordable, my Grandfather would have died of the stroke that he had before they gave him the blood thinner that saved his life and the stent in his carotid artery that extended it. Then the Type II diabetes would have taken his feet before killing him if not for the pills that control his blood sugar. Then the heart attack would have killed him without the emergency quadruple bypass surgery. And finally, he'd be dead from cancer except that he had radiation treatment.

      Don't get me wrong, I want everyone to have access to at least some basic level of health care, but one has to realize that each of these advances is going to cost money. Why is it that people expect premium health care when they can't afford premium food, cars, clothes, or a big-screen TV?

      --
      W..w..W - Willy Waterloo washes Warren Wiggins who is washing Waldo Woo.
    2. 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. Definition of discrimination? by Harmonious+Botch · · Score: 2, Insightful

    If I have speeding tickets, and my auto insurance carrier finds out about it, is that discrimination?

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

    1. Re:Definition of discrimination? by FiniteElementalist · · Score: 2, Insightful

      I think there was a law in the works to outlaw discrimination based on genetic information. I remember seeing something about it on ./

      However, the problem with the speeding ticket example is that you made the choice to speed and were then caught on it. People don't get to choose their genes (at least not yet!), and this information is more or less set before birth.

      This may also be another argument that free-market health insurance is flawed, since the profit motive to charge more for the genetically at risk people creates a disincentive for the public health motive of diagnosing and treating/preventing these conditions early.

    2. 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
    3. 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.
    4. Re:Definition of discrimination? by ArcherB · · Score: 2, Interesting

      Yes, if I am shopping for insurance that will give me a huge discount for having perfect eyes. The insurance would be to protect me if something really out of the blue happens or I suffer from a currently undiagnosed illness.

      And the bolded part is the key. Just because you are genetically inclined to have a disease, you may never get it or it may be 100% treatable. For example, genetically, I'm too blind to drive. I wore glasses for years and had the eye surgery about a year and a half ago. My vision is now better than 20/20, uncorrected. However, a genetic scan will still show that I'm blind as a bat. Just as someone with the gene for diabetes may never show any symptoms because the eat an Atkins diet and exercise regularly. It would be discrimination to charge that person higher rates. Another example would be that black people are more likely to suffer from cycle cell anemia. Statistics also show that black people are more likely to live in poor neighborhoods than say Asians. In poor neighborhoods, statistics show that you are more likely to "get a cap in your ass". Should black people pay higher rates? Good luck getting that past the ensuing lawsuits.

      --
      There is no "I disagree" mod for a reason. Flamebait, Troll, and Overrated are not substitutes.
  8. Re:Good old Slashdot. by TripMaster+Monkey · · Score: 2, Interesting

    Take off your blinders for once.

    If you disagree with the arguments posed, by all means dispute them. But don't just dismiss them out of hand, with a snarky "tinfoil hat" comment.

    --
    ____

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

  9. 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.

    1. Re:Replication of Results? by tOaOMiB · · Score: 2, Informative

      You don't sound much like a statistical genetics insider to me.

      Statistically speaking, you don't need 10 subjects per covariate. Where did you pull that number from? Let's say we have 100 subjects (50 cases, 50 controls), and 100 tests that we're performing. Let's say one of those tests segregates perfectly with our subjects. Bam! Huge result statistically. The probability of that result is astonishingly small (p ~ 10^-30). That means unless we are performing close to 10^30 tests, we can believe this result. So there's no law about number of subjects per covariate tested--with more tests, you just need a stricter p-value. By the way, hundreds of thousands of tests were performed, since one tests for association to genetic variability (in this case single nucleotide polymorphisms (aka SNPs)), not to genes. Genes reported are typically the nearest gene to the SNP.

      So, in a good study, with appropriately stringent tests, one can believe the results. However, I agree replication is necessary, especially since many labs don't hold to the rigor that is required. However, you are wrong about two things. First, negative results are in fact published in this field. Second, many many associations have been replicated in completely independent cohorts (and oftentimes even different populations!). See here for an example about this very study! or here for another diabetes replication.

    2. Re:Replication of Results? by comp.sci · · Score: 2, Informative

      What many people fail to realize is that genetic testing is already being done, routinely, all over the world. (Yes, also in the US)

      Typically termed Genetic Newborn Screening, a newborn is tested against a number of diseases before being discharged from the hospital.
      See the following for some information:
      http://learn.genetics.utah.edu/teachers/units/newb orn/NGS-student%20packet.pdf

      So your comment that genetics is just a promising technology for years to come is, at least somewhat wrong. It's here already, in many other forms as well. (Think genetically engineered foods for instance)
      I will agree however, that there is huge potential and on the large scale, we are probably still in the dark ages of genetics at the moment...

  10. Not good, not good at all by spun · · Score: 2, Funny

    I think that part was swapped out with amphibian DNA. That means the ACs will be able to breed!
    --
    - None can love freedom heartily, but good men; the rest love not freedom, but license. -- John Milton
  11. 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?

  12. Re:Have They Discovered:? by smittyoneeach · · Score: 2, Funny

    Sorry, bogus thinking is implemented as an application-level protocol.
    Much as some wish to blame their peccadilloes on the hardware, Paris Hilton had to work at being vacuous.

    --
    Get thee glass eyes, and, like a scurvy politician, seem to see things thou dost not.--King Lear
  13. As a diabetic... by gbobeck · · Score: 2, Funny

    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.'


    As a type 1 diabetic, I've always said that diabetes is a pain in the ass. Now, since this research shows that it shares a common gene with Crohn's disease, I guess that my statement is even more true than ever.
    --
    Navicula hydraulica plena anguilarum est. Omnes castelli tuus nostri sunt. Ed elli avea del cul fatto trombetta.
  14. Re:Have They Discovered:? by WilliamSChips · · Score: 2, Informative

    Although Margaret Sanger was indeed a eugenicist she was not a Nazi and in fact considered the Nazis to be "sad and horrible". Actually the biggest supporters of Mussolini in the United States were the businessmen, and we all know about Henry Ford.

    --
    Please, for the good of Humanity, vote Obama.
  15. Interesting reading the comments here by MikShapi · · Score: 2, Insightful

    I'm reading all the morals police comments here, and I'm quite surprised.

    Will someone PLEASE explain to me how the ability to diagnose diseases better and earlier is a BAD thing?

    There are numerous eggs and numerous sperm to make numerous children by any couple.
    When one of each gets a chance at life, a lot of others don't. One lives, others die. If we leverage genetics and choose zygote X where naturally Y would have gotten, it's a zero-sum morals game. A different one lives. As they're not yet anywhere near development, putting morals on this is akin to calling masturbation genocide. LOTS of potential human beings never get to live. It's the natural order of things. Forcing morals onto this and blaming people for it is nothing short of lunacy.

    The other side of the coin is, of course, that a LOT of life-ruining conditions (not only for the affected individual, but quite often for his entire family) are simply side-stepped.

    Discarding 41st-week pregnancies due to a disliked color of hair is easily avoidable using legal regulation where otherwise sane laws don't exist (say, laws allowing the mother the first part of her pregnancy to decide whether she is ready to commit and allowing her to abort, yet disallowing non-medically-motivated abortion once a certain reasonable point in the pregnancy is crossed, much like you can't just kill your 3-year-old because you don't want to commit to growing him).

    Yet how do these mild, pathetic and trivial-to-overcome "dangers" reason to bash the enabling technology that would save so much grief?

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  16. How insurance companies earn money by paulthomas · · Score: 2, Informative

    Insurance underwriting can break even and still be rational. Much of the money made by insurance companies is made by investing premium dollars into marketable securities (corporate and gov't bonds, stocks, etc.), from which the company derives investment income. In the break even situation, this is equivalent to borrowing money at a zero % interest rate, investing the proceeds at a higher interest rate, and paying off the loan at the end of its term. If underwriting is profitable, it is like borrowing money at a negative interest rate, amplifying the result.

    This is possible because of the time lag between the payment of premiums and the payouts for insured losses. Insurance companies have billions of dollars of insurance in force spread over many different policies, so it is the average loss experience that counts.

    In short, an insurance company can price policies that don't make a profit in unadjusted dollar terms and still be profitable as an insurance company (granted, its much easier if you avoid writing loss-making policies).