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Biotech Science

NIH Studies Universal Genome Sequencing At Birth 128

Posted by samzenpus
from the giant-book-that's-hidden-inside-you dept.
sciencehabit writes "In a few years, all new parents may go home from the hospital with not just a bundle of joy, but with something else—the complete sequence of their baby's DNA. A new research program funded at $25 million over 5 years by the National Institutes of Health (NIH) will explore the promise—and ethical challenges—of sequencing every newborn's genome."
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NIH Studies Universal Genome Sequencing At Birth

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    • Re: (Score:3, Insightful)

      by ShanghaiBill (739463)

      Yes, it seems silly to wait till birth. That is too late to deal with many genetic problems. With earlier testing, the parents will also have the option of aborting if the genetic problems are severe. In days gone by, prenatal testing, such as amniocentesis, was invasive and could cause problems. But there are now several non-invasive prenatal tests which employ DNA sequencing of fragments of fetal DNA in the mother's blood.

      • parents will also have the option of aborting if the genetic problems are severe

        Or minor. Or because it's a girl.

        • by Anonymous Coward

          parents will also have the option of aborting if the genetic problems are severe

          Or minor. Or because it's a girl.

          And aborting because the child is a girl requires a genetic test now? Get your slippery slope bullshit out of here.

          • by Feyshtey (1523799)
            It's not a slippery slope. It's a reality. The world has moved significantly down the road of choosing which lives are worthwhile, and which are just too big of a hassle. The scope of the lives that are ended broadens every year rather than narrowing, and correlates closely to the entitlement and selfishness of those choosing.

            People who abort because they dont want to deal with a child who has special needs are not uncommon. Girls are aborted because their less valued. Now lets ensure that every parent k
            • It's not a slippery slope. It's a reality. The world has moved significantly down the road of choosing which lives are worthwhile, and which are just too big of a hassle.

              What? As opposed to what earlier time? 1100AD? Earlier? Later? 1500AD? 1700 AD? Oh I see, you are only talking about post-slavery days.. so 1900 and beyond.. back during the bright, human rights upholding days of the industrial revolution with, you know child labor and no sufferage.. oh you mean later than that? About when Civil Rights became a *thing*. ?

              No later than THAT? Jesus buddy, we're running out of room on this end of history.

              Fuck.

              • by Feyshtey (1523799)
                Allow me to clarify for the deliberately obtuse: The world has moved significantly down the road of choosing which unborn lives are worthwhile, and which are just too big of a hassle.
                • Allow me to clarify for the deliberately obtuse: The world has moved significantly down the road of choosing which unborn lives are worthwhile, and which are just too big of a hassle.

                  So? To me this sounds like a GOOD THING. Too many children are born for the wrong reasons (family pressure, no contraceptives available, condom broke, drunk teenagers fooling around). More deliberate planning could only help.

        • Or minor. Or because it's a girl.

          It's their body, they should be able to do whatever they want with it. We should stay out of the affairs of others.

          • I'm certainly against eugenics on a government level, as it usually doesn't end well for minorities. I don't know how I feel about it on a personal level. Also, at some point it becomes their body as well as the body of another.
            • by Immerman (2627577)

              My first impulse is to agree, though I do suspect personal eugenics will end up leading quite rapidly (within a few generations) toward a perfectly reasonable discrimination against the poor as the wealthy pre-screen their children for defects, intelligence, beauty, etc, etc ,etc. In essence creating a race of supermen. Probably less ugly up front than government eugenics, but the long-term social fallout could be quite nasty.

              On the other hand it also seems like one of the least-ugly routes towards taking

              • ... discrimination against the poor as the wealthy pre-screen their children for defects, intelligence, beauty, etc, etc ,etc.

                An abortion costs a couple hundred bucks, and is far cheaper than a live delivery. Genetic sequencing is falling in cost at an exponential rate. There is no good reason to believe that genetic screening will only be available to "the rich". Plus society as a whole benefits when fewer sick or retarded people are born, so there will be pressure to make these services widely available.

                • there will be pressure to make these services widely available.

                  And now we're back to government sponsored eugenics.

                  • there will be pressure to make these services widely available.

                    And now we're back to government sponsored eugenics.

                    Available != Mandatory

      • If this can be used to decide to ABORT a child then this is a bad idea.

        gene markers that could be used to decide that a child needs to be aborted

        1 wrong gender
        2 not smart enough
        3 not athletic enough
        4 wrong eye/hair color
        5 not "pretty enough"
        6 Gay/Not Gay
        7 wrong skin color (bonus reason for Mixed Parents)
        8 Voice not Right
        8 wrong body build

        i could go on but the real Evil would be when gene editing is possible.

        • Wrong gender? Well, I guess it's a good idea that we have no way of knowing gender beforehand. Oh wait . . .

          And for the other retarded reasons, besides the fact that you can't extrapolate a person from their genes. You can find likelihoods, but outside of a few exceptions your common physical and mental traits are at best very weakly tied to genes. Unless there's a glaring genetic disease, it's what happens in development that's driving common phenotypical differences. Sure, there're a few genes you can
          • by Immerman (2627577)

            Don't mistake "we don't know how to read" with "it hasn't been written". To use your example of intelligence: aside from a few contributory genes it's true, we don't understand how intelligence is genetically encoded. But the fact that you can look at the parents and make a good guess shows that there *is* a strong genetic component, children are not a blank slate, and eventually we'll (presumably) learn to read DNA well enough to understand it.

            At present we're not even at the Dick and Jane reader

        • 9. Excess chromosome, child will require extensive care for most of their life and is unlikely to reach independence.
          10. Child will be healthy until around the age of fourty, then rapidly lose mental faculties and be reduced to continually asking why their dead wife doesn't come to visit the care home.
          11. Child has no immune system, and will require constant hospital care for the few years they survive.
          12. Cystic fibrosis. Survival to adulthood is possible, but not without constant and very expensive medica

        • 1 wrong gender

          Gender can be determined with ultra-sound. No DNA testing is required. Gender imbalances are bad for society, but gender selection is not inherently bad if it balances out. Some Asian cultures prefer sons, but Caucasian mothers undergoing IVF are more likely to prefer daughters.

          2 not smart enough
          3 not athletic enough
          4 wrong eye/hair color
          5 not "pretty enough"
          6 Gay/Not Gay
          7 wrong skin color (bonus reason for Mixed Parents)
          8 Voice not Right
          8 wrong body build

          Unless it is your kid, I would say that none of these considerations are any of your damn business.

          i could go on but the real Evil would be when gene editing is possible.

          Just because you saw something portrayed as "evil" in a movie, does not make it evil in real life. Gene editing should lead to a h

          • by Immerman (2627577)

            > Gene editing should lead to a healthier and smarter population. Why is that "evil"?

            I would say it's not, inherently. However the reality is that such technology is likely to be far more accessible to the rich than the rest of us - initially they'll be the only ones who can afford it, and going forward they will still be the ones who can afford the more extensive/valuable cutting-edge gene mods. The almost inevitable result will be a race of supermen who are objectively better than the rest by almost

            • The almost inevitable result will be a race of supermen who are objectively better than the rest by almost any metric you care to use.

              This would be a great plot for a Hollywood movie, but otherwise has little connection to reality. There is no good reason to believe that genetic mods will be particularly expensive. We already produce trillions of genetically modified soybeans. The soybean genome is no less complex than the human genome. Since the cost of the mods will be far less than the cost of raising a defective child, they should be covered by most insurance plans. Everyone who wants an enhanced child will get one.

              • by yndrd1984 (730475)

                We already produce trillions of genetically modified soybeans.

                Well, we produce trillions of descendants from a few dozen soybeans that had their genes modified. We're not exactly tweaking every bean.

                The soybean genome is no less complex than the human genome. Since the cost of the mods will be far less...

                The complexity of the genome isn't much of an issue when you're just inserting a gene, swapping out a gene is likely to be much harder.

                Plus, when you screw up a few soybeans, there's no moral pressure

    • Theres a new IVF technique that creates a dozen embryos, lets them grow a few days, then selcts most vigorous one. At this stage losing one nucleus to testing is not a problem. If one could sequence and analyze in hours, then this may become part of IVF.
    • by Carnildo (712617)

      You wait until birth because in-utero DNA sampling carries a risk of miscarriage or birth defects.

  • No. (Score:5, Interesting)

    by some old guy (674482) on Friday September 06, 2013 @06:42AM (#44773149)

    If no compelling medical issue requires sequencing in a newborn, it is invasive and coercive to conduct it.

    Any possible beneficial result is overshadowed by the inevitable abuse and misuse of the results. All I can see is creating a brand for each new child that will influence and determine decisions that may in fact have no significant scientific bearing. Predisposition is not certainty, and decisions based on uncertainty are, well, stupid.

    I'll be damned if I want my grandchildren automatically genome-branded by the government to the detriment of their education, employment, and insurability.

    • by Joce640k (829181)

      If no compelling medical issue requires sequencing in a newborn, it is invasive and coercive to conduct it.

      Why? They might have some genetic problem which will appear later in life.

      The real problem isn't the medical implications, it's the fact that we know the government is going to want a copy of the data (for the baby's own protection, of course...)

      • Re: (Score:2, Interesting)

        by Anonymous Coward

        The question really is: Is there a compelling medical reason to sequence a newborn?

        I know the VA was looking into the possibility of sequencing all military personnel. The idea was if military personnel had it coming in, then it could be analyzed and they could start predicting which medicines would work well for that person and which wouldn't. To have that all known upfront could make battlefield medicine a whole lot more effective, reduce the chances of allergic reactions, and provide better care.

        In som

        • by Dcnjoe60 (682885)

          ncidentally, when ObamaCare was being debated, most of the people I know familiar with this hoped that health insurance would be nationalized (for other reasons), but a convenient side effect would be it would quickly be cost effective to sequence the average American's DNA allowing them to provide better care.

          Nationalized healthcare/insurance ore even mandating private insurance cover it doesn't make it any more cost effective. It simply solves the problem of who is going to pay for it. If the process isn't cost effective or the cost benefit ratio is poor, nationalizing the payment doesn't change that.

      • by Thanshin (1188877)

        No, the problem is that there is no mechanism to punish the government when it does such stuff, other than revolution.

        That mechanism has to be created.

        • by Dcnjoe60 (682885)

          No, the problem is that there is no mechanism to punish the government when it does such stuff, other than revolution.

          That mechanism has to be created.

          That mechanism already exists, it's called a ballot box. However, it is often far too late for the people actually harmed by the government.

    • Re:No. (Score:5, Insightful)

      by Anonymous Coward on Friday September 06, 2013 @07:18AM (#44773309)

      You worry about insurance companies getting accurate data so that they can compute the true cost of the risk that a customer carries. If you feel that isn't appropriate, then what you want is not insurance. Insurance is the pricing of risk. What you want is pooled expenses, which is what government programs is about - despite the wide-spread misunderstanding, that's not the service that insurance is supposed to offer. Insurance prices your individual risk while pooled expenses lets everyone pay for other people's risk. The two are fundamentally different. If you oppose giving insurance companies accurate information, then you are saying, whether you know it or not, that you don't want health care to be handled using an insurance model - you want a government solution using pooled expenses. Which would also solve your problem of worrying about insurability.

      • by Anonymous Coward
        Insurance is the pricing of risk.

        Insurance is the pricing of what people can be convinced is reasonable pricing given the risk--which they by design can't evaluate. In reality, the insurance companies trend toward taking no risk whatsoever, as the risk model trends to sufficiently comprehensive to quantify and build into the price all risks plus an arbitrary profit. Eventually, along this track, insurance becomes simply a savings system for the risk eventuality which is statistically simply a very bad
      • by Jiro (131519)

        If the fire insurance company could predict that your house would burn down, costing $300000, they'd charge you $300000 plus profit, and fire insurance would be totally useless. Contrary to what you are saying, pooled expenses is the only reason that insurance is useful at all.

        • Insurance only works because the company's predictive model is imperfect. The better their model gets, the less useful it is to the customers.

          • by Feyshtey (1523799)
            That doesnt make any sense.

            I can only translate what you're saying to mean that on the one hand that insurance is expensive because the company has to coverage its statistically imperfect prediction of it's costs. And on the other hand that has they perfect their prediction of their expenses they will charge the customers more?
            • The initial example captures it quite well, but let me break it down for you:

              Insurance companies are in the business of making money, they do this by charging you more than they ever expect to pay out. If they could predict the future with 100% accuracy then they would charge you a rate at which they would collect 100% of the expenses you will incur, plus profit.

              Since they can't predict that accurately they instead spread the risk around - if everyone has an unpredictable 5% risk of incurring $100,000 in c

              • by Feyshtey (1523799)
                Ah, I understand now. When you said the company's predictive model I read it as their prediction of their overall costs. But you actually mean the medical industry's predictive model based on a person's genome.
      • Good lord, this is horribly wrong.

        The entire purpose of insurance is to pool risk, not price it. Pricing it is just part of the mechanics insurance companies have to go through to profitably allow us to pool risk. Let's say I have a 1% chance of getting in a car accident costing $100,000 this year. That would be ruinous for most folks, so we created companies that will take $1000 + some profit from everyone, every year and pay for the loss. We trade an unlikely horrible event for a guaranteed manageable

        • When we do it your way, it doesn't work at all. People who aren't going to need insurance will get it really cheap. People who do will be unable to afford it.

          That is exactly how insurance is supposed to work. If you aren't high-risk, there is no reason for you to pay a lot for insurance. Conversely, if you are high-risk, you should pay more, because you're expected to cost more. Insurance isn't a charity or transfer scheme, it's a way to take a risk and make it into a fixed cost. Instead of a 0.1% chance of paying $1,000,000, you pay $1,000. The expected cost (risk * cost) does not change, apart from overhead.

          The only way it works at all is either if you sign up before any risk assessments like this can be done ...

          Exactly. The proper time to take out insurance on a c

          • by Belial6 (794905)
            With perfect risk assessment being possible, no insurance company would issue a policy until that assessment was done, and even if they did, once the assessment does get done, anyone that knows they are not at risk, will just cancel their policy once they know they are not at risk.
            • With perfect risk assessment being possible, no insurance company would issue a policy until that assessment was done...

              Accurate assessment has a cost as well, both to perform the assessment and in losing customers who aren't willing to complete it. It is always possible to compensate for uncertainty in the assessment by assuming a higher level of risk, constrained on one side by the actual cost to the insurance company and on the other by competition for insurance customers. If insurance companies always waited for perfect information there would be no insurance companies.

              ... once the assessment does get done, anyone that knows they are not at risk, will just cancel their policy once they know they are not at risk.

              In the pre-conception insurance policies I was refer

    • If no compelling medical issue requires sequencing in a newborn, it is invasive and coercive to conduct it.

      What if the baby might have some condition that is better treated as early as possible? Does that not count as a "compelling medical issue"?

      Are blood samples not already taken from newborns anyway? If so, genetic testing doesn't seem any more "invasive".

      However, I agree that indeed my concern is that the data will be kept on file and used for purposes other than medical treatment - I like the idea of the medical profession having lots of genetic data on file; I don't like the idea of the government (and b

      • Problem there is even if the current government doesn't allow 3rd party access to the DNA database, would the next congress/administration share the same vision? How long until someone decides its ok for 3rd party researchers to access the data for 'medical study'? How long until the massive lobbying dollars start flowing in from insurance companies in order to 'change opinions' to help ins companies better manage risk? And so on and so on. Welcome to Gattica.
        • Problem there is even if the current government doesn't allow 3rd party access to the DNA database, would the next congress/administration share the same vision?

          Indeed. I would be happy for DNA to be sequenced at birth, analysed for any conditions that need immediate treatment, and then the only copy given to the parents for safe keeping (not that I think the general public are especially good at doing the "safe keeping" thing, unfortunately). Keeping all the data in a database is problematic for exactly the reason you state.

          How long until someone decides its ok for 3rd party researchers to access the data for 'medical study'?

          For *actual* medical studies, this is pretty good - if you can provide the anonymised DNA sequence along side anonymised medical records the

          • by Jiro (131519)

            Indeed. I would be happy for DNA to be sequenced at birth, analysed for any conditions that need immediate treatment, and then the only copy given to the parents for safe keeping (not that I think the general public are especially good at doing the "safe keeping" thing, unfortunately).

            That doesn't solve the insurance problem. The insurance company would demand disclosure of the DNA and use it to deny coverage or charge more. Just the fact that you have the information sitting in your drawer would be enoug

            • That doesn't solve the insurance problem. The insurance company would demand disclosure of the DNA and use it to deny coverage or charge more.

              That goes for any diagnostic tool that would spot illnesses in their earliest stages though doesn't it? What is needed is regulation of the insurance companys to reduce the scope of their discrimination.

              If you don't have it, it's much harder for the insurance company to demand it

              Or they will simply demand you get sequenced before giving you insurance...

              • What is needed is regulation of the insurance companys to reduce the scope of their discrimination.

                Discrimination, at least insofar as it relates to risk, is pretty much the entire point of an insurance company. Assessing actuarial risk to determine the expected cost of insuring someone is fundamental to the job. If you want charity rather than insurance, just say so; please don't ruin actual insurance for those who want it.

                • by Belial6 (794905)
                  Insurance is useless for those who don't have risk. Paying insurance to cover you against diabetes would be stupid if you could see through a DNA test that you will never get it.
                  • Insurance is useless for those who don't have risk. Paying insurance to cover you against diabetes would be stupid if you could see through a DNA test that you will never get it.

                    Exactly. Insurance isn't meant to cover those who without risk, any more than it's meant to cover those facing a known cost. It's for the cases in between, where you have a low risk of a high cost and would prefer a predictable premium.

                • What is needed is regulation of the insurance companys to reduce the scope of their discrimination.

                  Discrimination, at least insofar as it relates to risk, is pretty much the entire point of an insurance company.

                  No, it isn't.

                  For the customer, excessive discrimination is a bad thing: if the insurance company can determine your risk with 100% accuracy then you are _guaranteed_ to be paying over what it would've cost to self-insure. So the higher the insurer's accuracy WRT discrimination, the worse it is for the consumer.

                  On the other hand, assessing risk accurately is very good for the insurance company, because out-pricing the customers who are most likely to need insurance and retaining those who don't need it is g

    • I'll be damned if I want my grandchildren automatically genome-branded by the government to the detriment of their education, employment, and insurability.

      No one wants the reality you speak of, we've already implemented laws to prevent this. The Genetic Information Nondiscrimination Act of 2008. Furthermore The Americans with Disabilities Act extends to individuals with genetic disabilities. Additionally affirmative action applies to any organization receiving federal funding.

      Viruses and many other things can mutate DNA, I don't see a downside in making a backup copy of yourself.

      • Oh, like the government actually obeys it's own laws? I almost spit my lunch laughing at that one.

      • by Sarius64 (880298)

        No one wants the reality you speak of, we've already implemented laws to prevent this. The Genetic Information Nondiscrimination Act of 2008. Furthermore The Americans with Disabilities Act extends to individuals with genetic disabilities. Additionally affirmative action applies to any organization receiving federal funding.

        Viruses and many other things can mutate DNA, I don't see a downside in making a backup copy of yourself.

        It would be fun to get my genetic profile and have it indicate that we are all African-Americans. Woot!

  • by Rande (255599) on Friday September 06, 2013 @06:56AM (#44773199) Homepage

    The problem of the screams and arguments when the father finds out at the hospital that the child isn't biologically his.
    Even 1% [wikipedia.org] will mean that the report won't automatically be given to the parents, or perhaps only a synopsis.

    • by Anonymous Coward on Friday September 06, 2013 @07:12AM (#44773279)

      It shouldn't be legally possible for a person to make a decision about whether to take on legal parental responsibilities while being possibly deceived about whether they are the biological parent. That situation is no different, not in any relevant way, than getting a switched baby home from the hospital - something everyone can obviously see is horrible when it happens to women. So automatic parental certainty as a consequence of such DNA tests isn't a problem - it's a solution to a problem.

  • How can a study of ethical issues cost that much?

  • why even take the baby home? Isn't the DNA sequence stored somewhere in the cloud equivalent ?
  • by Guppy (12314) on Friday September 06, 2013 @07:51AM (#44773445)

    The article linked briefly mentioned the existing newborn screening program (Inborn errors of metabolism screening), but I'd like to discuss it a bit further. This is a long-existing program in the US which is administered at the state level, which means the particular regulations and included diseases vary; some states have far more extensive testing than others.

    The program is mandatory (usually with some form of parental opt-out), and checks for certain rare genetic diseases, the proto-typical example of which was phenylketonuria [wikipedia.org] -- a metabolic defect that will lead to seizures and mental retardation if allowed to progress, but if treated early (by adhering to a strict diet) will allow a for a relatively normal level of intelligence and life-span. As time and medical understanding progressed, numerous other diseases have been recommended as well:
    http://www.acog.org/Resources%20And%20Publications/Committee%20Opinions/Committee%20on%20Genetics/Newborn%20Screening.aspx [acog.org]

    From a public health perspective, one issue is that the cost of the program has to be balanced against the relative benefit; since each new test added is state-wide, the cost quickly adds up. And, everyone likes saving babies (especially disease-specific foundations, lawyers, and politicians), there's pressure to add conditions which are extremely rare, to the point that one additional "saved" baby can cost multi-millions of dollars.

    While a sequencing at birth could potentially replace most of these individual tests, there's quite a bit of scope for feature-creep as to what is required to be done with the data afterwards. I could see this becoming very expensive indeed.

  • Looking forward, from the past. http://en.wikipedia.org/wiki/Gattaca [wikipedia.org]
  • by Lord Kano (13027) on Friday September 06, 2013 @08:15AM (#44773555) Homepage Journal

    I'm not having my children's DNA available to be cataloged and searched by anyone. I'll let them decide that when they're adults.

    LK

  • What's probably more important, is not that the information is being collected (it has many uses), but that greedy and unethical insurers (especially those who don't get the "pooling risk" part), who will game, cheat and generally be scummy, by refusing to insure people (or charging higher premiums) for people with certain bad genes.

    Private health insurers are generally greedy fucksticks who are happy to charge exorbitant amounts of money for a rubbish product, and are quite happy to use any means to ignore

    • This is already happening. I have a cousin who was arrested a couple of years ago participating at a demonstration. A cheek DNA sample was taken at booking time. She recently applied to get a pricier health care plan and was denied. She didn't understand why considering it was with the same insurance carrier and hadn't used her existing policy much. They wouldn't tell her when she pressed them on this issue. She decided to sue, and in discovery it turns out they had obtained her DNA sequence under the guise
  • by msoftsucks (604691) on Friday September 06, 2013 @09:52AM (#44774171)
    In NY state, in many others and in cities around the world, DNA is taken from you when you are arrested. It doesn't matter if you are innocent or if the charges are misdemeanors, your DNA is placed in a database and will never be removed. In NY, Murdoch's education initiatives are already sequencing all children that are in public school. Just like the DMV selling your private info, Murdoch has made deals with insurance carriers to sell them this sequence data. If your DNA is sequenced it will be used against you in ways that you will never know. Gattaca is already here.
    • Some states allow arrestees who are no longer facing charges to get their entire arrest record expunged or sealed, including fingerprint and DNA test results. Typically they have to wait until charges have been dismissed "with prejudice" or until the statute of limitations has expired, which is usually 3-10 years for low-level felonies and up to "never" for murder and some other high-level felonies.

      Granted, this isn't as good as having the information destroyed entirely, but it's a start.

  • by PopeRatzo (965947) on Friday September 06, 2013 @10:00AM (#44774253) Homepage Journal

    Who wants to bet they're going to spend a lot more time and energy on the "promise" than they will on the "ethical challenges"?

    How did our species survive so long without this innovation? We better get right on this.

  • Most prospective parents would be inclined to select for similar traits. When this is done on a large scale, it would lead to decrease in human genetic diversity. Now, to anyone familiar with agriculture, the danger of monoculture is well known. This is not viable in the long term, and in a dynamic environment is likely to eventually lead to extinction. This is not to say we shouldn't use some level of artificial selection, but it is very important that it's done carefully and is globally coordinated, with

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