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In 26 Hours, Sick Newborns Go From Genome Scan To Diagnosis (ieee.org)

the_newsbeagle writes: Parsing the first human genome took a decade, but times have changed. Now, within 26 hours, doctors can scan a sick baby's entire genome and analyze the resulting list of mutations to produce a diagnosis. Since genetic diseases are the top cause of death for infants (abstract), rapidly diagnosing a rare genetic disease can be life-saving. The 26-hour pipeline results from automated technologies that handle everything from the genome sequencing to the diagnosis, says the doctor involved: "We want to take humans out of the equation, because we're the bottleneck."

61 of 92 comments (clear)

  1. That cuts both ways by damn_registrars · · Score: 5, Insightful

    If the insurance pays for a full genome scan, they will want to see the results. And then before you know it, they will be tagging as many conditions as possible as "pre-existing" and using that to justify partial / no coverage for them once the newborn is home.

    Yeah, it's great to know the information, but it sets you up for a lifetime of getting fucked by the insurance companies (not that the 2010 "affordable care act" didn't set that up regardless).

    --
    Damn_registrars has no butt-hole. Damn_registrars has no use for a butt-hole.
    1. Re:That cuts both ways by beelsebob · · Score: 4, Insightful

      Simple solution - socialise your healthcare.

    2. Re:That cuts both ways by damn_registrars · · Score: 1

      I don't know if you're being serious (in which case you are the one other liberal on slashdot aside from myself) or not (in which case you are parroting the majority in your parody). I have been calling for single-payer socialized medicine in the US for decades myself. From my vantage point the 2010 bill is the largest corporate handout in the history of government, and it made many things much worse.

      --
      Damn_registrars has no butt-hole. Damn_registrars has no use for a butt-hole.
    3. Re:That cuts both ways by jedidiah · · Score: 3, Interesting

      ...although it did nullify the "pre-existing conditions" problem.

      So we don't have to force everyone to be stuck with the crapulence of Medicare, Medicaid, Disability, or the VA in order to solve this particular problem.

      As someone with such a condition, the LAST thing I want is to be in the clutches of any sort of American variation on socialized medicine.

      --
      A Pirate and a Puritan look the same on a balance sheet.
    4. Re:That cuts both ways by ShanghaiBill · · Score: 1

      they will be tagging as many conditions as possible as "pre-existing" and using that to justify partial / no coverage

      That is illegal in the United States, and in all other first world countries.

    5. Re:That cuts both ways by rubycodez · · Score: 1

      if the powers with your government in their pocket want things differently, it will be so.

    6. Re:That cuts both ways by Anonymous Coward · · Score: 5, Interesting

      Yeah there are some ethical reasons not to have a compulsory genome sequence for every newborn in 2015 but the benefits would be amazing. Diagnosis of childhood ailments is just one of them. (Baby mix-ups would be a thing of the past too)

      But do you know the real reason we don't do it?

      Every time a program like that has been tried a very very uncomfortable fact always becomes clear very fast - The father listed on the birth certificate often doesn't match the genome scan. Something to the tune of 15-30% of the time, even in the nice middle-to-upper class white suburban hospitals where such things get trialed.

      We humans like to sleep around a lot. We just don't like to admit it.

    7. Re:That cuts both ways by Anubis+IV · · Score: 2

      before you know it, they will be tagging as many conditions as possible as "pre-existing" and using that to justify partial / no coverage for them once the newborn is home.

      That's illegal under the 2008 Genetic Information Nondiscrimination Act, which prevents insurers from using genetic predispositions in the determination of insurance coverage/premiums.

    8. Re:That cuts both ways by The+Real+Dr+John · · Score: 1

      You make a really good argument for national health care coverage from birth to death, like in the rest of the developed world. Removing the two words "over 65" from the original Medicare bill would pretty much fix the problem. Pay for it by shutting down most overseas military bases, which do nothing for the American people (unless you get one of those cost-plus no bid base building contracts).

      --
      A brain is a terrible thing to waste... Mind? That's debatable.
    9. Re:That cuts both ways by Terwin · · Score: 2

      Simple solution - socialise your healthcare.

      Having seen how thoroughly the US government has botched other social programs, and the amount of bureaucratic over-head caused by every congressperson trying to get cut-outs for their donors(and occasionally for their voters), I cannot see US socialized medicine as a viable option.

      Other countries have managed to do this with more or less success, but so long as the US government continues to treat its citizens as enemies, those citizens are unlikely to (and probably should not) trust that same government to have control over their health care.

      Perhaps once politicians and bureaucrats have won the trust and support of the American people we can have a rational discussion about socialized medicine in the US, but most of them have not been working in that direction in a very long time...

    10. Re:That cuts both ways by fyngyrz · · Score: 1

      It's illegal to consider many things about a job applicant, too, but very often, the pretty lady who shows up dressed to kill will still likely get the job over the ugly duckling with the tattoo on her neck, qualifications aside. The white guy will still likely get the job over the black guy, qualifications aside. The guy will still likely get the job over the woman, qualifications aside. VW will still build emissions systems that are out of spec. It's all illegal. It happens anyway. And so will insurance companies shorting people of care (thought other means of course, it's always thought other means) when they have a clear indicator that those people are, statistically speaking, going to impact the bottom line in a way that the actuaries can point to in a concrete manner.

      Single payer, cover-everyone is the only sane answer. Capitalist society, socialist society, libertarian society, communist society, same answer every time. Shit that happens randomly to people needs to have umbrella-level countermeasures or it will fuck things up. Just as we have repeatedly seen with US healthcare, and for that matter are still seeing in spades where the medicare expansion was broken by evil-minded, bought-off shills.

      --
      I've fallen off your lawn, and I can't get up.
    11. Re:That cuts both ways by bws111 · · Score: 1

      Oh, aren't you so clever coming up with an insightful statement like that! So smart!

      In all of Congress (House and Senate) there was exactly ONE vote against making it illegal. That vote was from loony toon (and slashdot favorite) Ron Paul. That law isn't going anywhere.

    12. Re:That cuts both ways by Anonymous Coward · · Score: 1

      if the powers with your government in their pocket want things differently, it will be so.

      Those powers were okay with it, since in trade they got congress to force the entire population of the U.S. to be "customers", or face a fine. The whole ACA was written by their lobbyists so it was their idea anyways.

    13. Re:That cuts both ways by knightghost · · Score: 2

      Crapulence? Methinks you have zero experience with it. I've worked internationally (including several years in Canada) and socialized medicine is better quality yet half the total cost for 95% of citizens. Capitalism doesn't work when you can't shop around... and even if you could, how long will you shop around and ask for quotes while you're child is screaming bloody murder due to a broken arm? Medicine and Capitalism are oil and water.

    14. Re:That cuts both ways by Qzukk · · Score: 2

      I've always been curious how things would have turned out if some kid had broken Bastiat's leg instead of his window, because a large portion of the money spent on healthcare is nothing but maintenance as Bastiat would have seen it.

      --
      If I have been able to see further than others, it is because I bought a pair of binoculars.
    15. Re:That cuts both ways by Kjella · · Score: 1

      It's illegal to consider many things about a job applicant, too, but very often, the pretty lady who shows up dressed to kill will still likely get the job over the ugly duckling with the tattoo on her neck, qualifications aside. The white guy will still likely get the job over the black guy, qualifications aside. The guy will still likely get the job over the woman, qualifications aside. VW will still build emissions systems that are out of spec. It's all illegal. It happens anyway.

      Sure, a lot of things are illegal. But test results and patient journals won't magically end up on the insurer's hands. They can't be used for risk scoring or denying coverage unless someone builds that into the system. A lot of people would have to get involved and if they're caught they're going to be raked over the coals like VW is now, sure it might happen but it's a lot harder than information you obviously know because you've met the job candidate and you only have to be obtuse or disguise the true reason for rejecting them, nowhere is there a smoking gun proving it - unless you're actually stupid enough to hand them one. There's a lot of other weaknesses I might point out, but with a law in place and penalties that have teeth this isn't really one of them.

      --
      Live today, because you never know what tomorrow brings
    16. Re:That cuts both ways by Opportunist · · Score: 4, Insightful

      Living in a country with socialized heathcare, I can say with some certainty that people may have different opinion on many things around here, but if you dared talking about taking it away, you could as well try to teach creationism in schools. The effect would probably be the same, people of all political parties would demand to have you removed.

      Not from office. From the gene pool.

      --
      We used to have a Bill of Rights. Now, with the rights gone, all we have left is the bill.
    17. Re:That cuts both ways by Anonymous Coward · · Score: 1

      (in which case you are the one other liberal on slashdot aside from myself)

      Why do so many people on Slashdot cling to the obviously false narrative that they're one of the very few liberals/conservatives on a site that is overwhelmingly filled with right-wing nutjobs/commie pinkos?

    18. Re:That cuts both ways by Quirkz · · Score: 2

      15-30% seems high. Something I was reading recently suggested 5% was more typical. Struggling to remember my source - possibly the book "Before the Dawn"?

    19. Re:That cuts both ways by InterGuru · · Score: 1

      Remember the sign at a Tea Party rally. "Keep government out of my Medicare."

    20. Re:That cuts both ways by Tsu+Dho+Nimh · · Score: 1

      However, in the USA, pre-existing conditions are no longer a reason to deny coverage. The Affordable Care Act made it a moot point.

    21. Re:That cuts both ways by Coren22 · · Score: 1

      So what do you do when population growth goes severely negative because all the fetuses are aborted?

      No one has perfect genetics.

      --
      APK likes to ask for responses to the same things over and over. Maybe he just likes the responses?
    22. Re:That cuts both ways by Opportunist · · Score: 1

      No, but then again I never thought the Tea Party was anything but a bunch of loonies, so I deem it quite possible.

      --
      We used to have a Bill of Rights. Now, with the rights gone, all we have left is the bill.
    23. Re:That cuts both ways by fatwilbur · · Score: 1

      If the insurance pays

      As a non-American it struck me as both funny and sad the first thought/comment on here was about insurance and who pays for all this. Of course that's a consideration, but not at all primary when thinking about the benefits of this technology.

      It really is nonsensical by now - just go single payer, it makes too much sense. Readily available data from many countries show it is actually (gasp!) cheaper and provides better outcomes. Well, save for the handful of people rich enough to buy all the doctors, top-of-the-line medical equipment, and immediately jump to the front of the line ahead of those who require care more. I have an inkling the last point is the biggest reason why single-payer hasn't (and may never) happen in the US - once cost factor is removed, hospitals return to true triage systems and treat the sickest, not the richest, people first.

    24. Re:That cuts both ways by InterGuru · · Score: 1

      10- seconds of googling.

      http://politicalhumor.about.co...

    25. Re:That cuts both ways by sociocapitalist · · Score: 1

      ...although it did nullify the "pre-existing conditions" problem.

      So we don't have to force everyone to be stuck with the crapulence of Medicare, Medicaid, Disability, or the VA in order to solve this particular problem.

      As someone with such a condition, the LAST thing I want is to be in the clutches of any sort of American variation on socialized medicine.

      I'm an American benefiting from French socialized medicine and I think Americans are (excuse the French, as the expression goes) absolutely out of your/our fucking minds for not socializing medicine.

      --
      blindly antisocialist = antisocial
    26. Re:That cuts both ways by rubycodez · · Score: 1

      you only prove my point

  2. Now try to get for-profit insurers to pay for it by Anonymous Coward · · Score: 1

    They currently won't even pay for cytochrome P450 tests, and those are used to screen for metabolism differences that affect drug clearance/pharmacokinetics and can literally kill someone.

  3. Resuming your reply in a single word: by Anonymous Coward · · Score: 3, Insightful

    "Gattaca"

  4. Is it just me? by Kokuyo · · Score: 1

    Keeping people alive you know are faulty is kinda senseless unless you have ways to fix the problems.

    I know this attitude is harsh and frankly, I myself probably wouldn't have made the cut either... but seeing as we're 8 billion getting more feeble with every generation... I don't know... this just doesn't seem like a very good trend.

    1. Re:Is it just me? by drfishy · · Score: 1

      I used to think this. I changed my mind when I starting thinking about all the tech we've developed as a result of our desire to fix those problems. I think our desire to help those who can't help themselves is ultimately a good evolutionary direction even though it can seem like a waste of resources in some cases.

    2. Re:Is it just me? by Aqualung812 · · Score: 2

      Keeping people alive you know are faulty is kinda senseless unless you have ways to fix the problems.

      That is an extremely short-signed view.

      I thought ST:TNG did a good job of explaining this in both "The Enemy" and "The Masterpiece Society": The technology used to help a blind baby see was adaptable to other solutions where otherwise "unfaulty" people would benefit.

      A review of key historical figures will reveal many with physical issues from birth.

      The ability of a person to contribute to society, directly or indirectly, is impossible to predict.

      --
      Grammer Nazis - I mod you "troll" unless you actually add something on-topic. Yes, I know I have mispellings in my sig.
    3. Re:Is it just me? by Jason+Levine · · Score: 1

      And how do you define "faulty?" If the baby has a terminal condition that will result in his death in 2-4 years? If the baby has genes that predispose him to have childhood cancer when he is 9? If the baby has autism? If the baby might develop epilepsy? If the baby will develop Alzheimer's when he is and old man? If the baby has brown eyes because blue eyes are so much better? If the baby is too short? If the baby is too fat?

      Defining people as being "faulty" and declaring that you won't keep those people around is a slippery slope. (And without meaning to Godwin the thread, yes this slippery slope has been gone down many times in many different cultures and it's never had a happy result.)

      --
      My sci-fi novel, Ghost Thief, is now available from Amazon.com.
    4. Re:Is it just me? by Coren22 · · Score: 1

      You struck upon one example as well. Autism can be a gift or a curse depending on your perspective. Many people with autism score very high on intelligence, some are left brain, some are right brain, but all seem to be very smart. Many of the best artists have autism, and many of the smartest scientists are autistic.

      Not every "negative" has no positives.

      --
      APK likes to ask for responses to the same things over and over. Maybe he just likes the responses?
    5. Re:Is it just me? by Jason+Levine · · Score: 1

      I included the autism reference on purpose as I'm the parent of a child with Asperger's Syndrome/High Functioning Autism. He has plenty of issues (especially with socialization which doesn't come as naturally to him as it does to others), but he also has plenty of strengths that I don't see in neurotypical (not autistic) kids. It angers me to no end when someone calls people with autism "broken", especially people from the anti-vaccination movement who all but declare that kids are better off dead of vaccine-preventable illness than having autism. There are too many people who think an autism diagnosis means your kid is permanently faulty and thus should just be written off.

      --
      My sci-fi novel, Ghost Thief, is now available from Amazon.com.
    6. Re:Is it just me? by Coren22 · · Score: 1

      I am aware of the condition, I grew up with it, and am raising two sons with it myself. They changed the diagnosis so that Asperger's no longer exists as a distinct diagnosis, it is all autism spectrum now.

      --
      APK likes to ask for responses to the same things over and over. Maybe he just likes the responses?
    7. Re:Is it just me? by Jason+Levine · · Score: 1

      We got my son's diagnosis before the DSM V came out, but when people were aware that Asperger's was going to go away as a separate diagnosis. That's why our diagnosis read "Asperger's Syndrome/High Functioning Autism" - so that we wouldn't have any problems obtaining services in the future.

      I also grew up with Asperger's Syndrome/Autism. All signs point to me being undiagnosed but on the spectrum. Back when I was young, I was just told I was "shy" (not really, I wanted to converse but didn't know how) and "weird". My oldest son all too often reminds me of myself at his age. This can work to our advantage (I can use techniques I've used for myself to help my son) or our disadvantage (I assume what helped me will help my son when he needs something completely different).

      My youngest son is neurotypical so we often have conflicts where my oldest means well but comes across as bossy or overbearing. Luckily, my youngest is very easygoing so it doesn't ALWAYS result in a huge sibling fight.

      --
      My sci-fi novel, Ghost Thief, is now available from Amazon.com.
  5. Rapid diagnosis can be life-saving. by Nutria · · Score: 1

    Which usually leads to a lifetime of huge medical costs.

    In a system of collective health care (after all, that's what "insurance" is), we can't pay for *everything*, and hard, heart-wrenching choices must be made.

    --
    "I don't know, therefore Aliens" Wafflebox1
    1. Re:Rapid diagnosis can be life-saving. by tnk1 · · Score: 2

      All health care is eventually a black hole that you throw money down and have it disappear. I don't think we should really be in it for the profit angle.

      On the other hand, I don't want the government in it. Not because I don't want people to get "free" medicine, but because I think the government will screw it up, or worse, obtain control over the lives of the people who are supposed to be keeping it in check. It will constantly be a battle between people who are trying to give more and more away to keep getting elected, and people who try to "reform" the programs with a giant sledgehammer.

    2. Re:Rapid diagnosis can be life-saving. by alvinrod · · Score: 2

      Everyone eventually gets sick and likely ends up soaking up huge medical bills. You could be perfectly healthy all your life but still wind up with cancer and an expensive treatment.

      The only alternative is some kine of Logan's Run approach, but I don't think anyone will be lining up for that.

      What you fail to consider is that what is expensive as hell today, will only get cheaper in time as technology improves. In 200 years, curing cancer might be as easy as taking some over the counter medication that's cheaply available. Look back at the biggest killers from 200 years ago and we've eliminated a lot of them or made it relatively inexpensive to deal with them. The difficult problems now are next centuries low hanging fruit and we don't get to that point without spending a lot of resources to solve those problems.

    3. Re:Rapid diagnosis can be life-saving. by frovingslosh · · Score: 1

      Mod parent down as "too insightful".

      --
      I'm an American. I love this country and the freedoms that we used to have.
    4. Re:Rapid diagnosis can be life-saving. by Jason+Levine · · Score: 1

      However, early detection can also lead to early treatment which can greatly reduce costs. For example, we spent years going from doctor to doctor to figure out what was happening with our son. After years, we got a diagnosis of Asperger's Syndrome/High Functioning Autism. He's now getting help to learn social skills that come naturally to other kids. Research has shown that the earlier the detection and the earlier intervention starts, the more effective it is. If this was able to be diagnosed from a genetic scan back when we first saw something wrong, we could have started years sooner and would have been much further along. (He has progressed a lot, but there are always those moments when you realize that he might be intellectually ahead of his peers, but he is four years behind them socially/emotionally.)

      --
      My sci-fi novel, Ghost Thief, is now available from Amazon.com.
    5. Re: Rapid diagnosis can be life-saving. by Coren22 · · Score: 1

      None of those countries is the US, not all countries are the same.

      For an example of socialized medicine in the US, look at the VA, and how dysfunctional it is.

      --
      APK likes to ask for responses to the same things over and over. Maybe he just likes the responses?
  6. maybe dad wants to see the genome by rubycodez · · Score: 1

    if it ain't his, why bother with it. let the whore and her squeeze pay for and raise the thing

  7. The jail / prison covers pre-existing conditions by Joe_Dragon · · Score: 2

    The jail / prison covers pre-existing conditions and I think at most all you have pay it you can is a $3-$8 copay.

    Also the The jail / prison covers stuff that the ER does not and free room + board is on the side.

  8. Yet the ACA is FAR better than what we had by fyngyrz · · Score: 2

    it made many things much worse

    It was definitely a corporate handout by congress (and also, not what Obama asked for... hence I never call it "ObamaCare"), but it also definitely made some things better. I know quite a few people who have healthcare for the first time in many years, some of them with pre-existing conditions, others who simply couldn't afford it. Care ranging from from a CPAP mask to a much-needed case of testosterone therapy. In fact, if it hadn't been for the malfuckery of the Montana republicans, who callously shot the legs out from under the ACA by bitch-screwing the medicaid expansion for years, it would have done even more.

    Next year - assuming no further malfuckery on the part of the various Kochsuckers out there, one 62 y/o lady I know who is both diabetic and a breast cancer survivor, is going to have decent, continuous medical care for the first time in her life. Her breast cancer costs were covered by a vertical breast/cervical treatment program, and she's 10+ years out now, so that's good, but as she points out, if it had been liver cancer, she would have had no viable options at all. Now she will. Hopefully. If the ACA hadn't been so adroitly interfered with, she would have already.

    So while I'm totally on-board with "could have been a lot better", the way it was prior to the ACA... that was a whole damn sight worse.

    --
    I've fallen off your lawn, and I can't get up.
  9. A Present from Your Aunt Teela by Pseudonymous+Powers · · Score: 1

    "No, sweetie, we already scanned your baby's DNA a few hours after he was born. What? No, I know you didn't ask us to. No, neither did the father. Yes, it is a little expensive. But don't worry, it's already been paid for. These nice people who work for someone named something like "Nissa" or "Phoebe" volunteered to pay for genetic scans of all the babies born in our hospital system. All they ask in return is that we send them a copy of each scan. So we do. Isn't that nice?"

  10. Really by fyngyrz · · Score: 2

    Keeping people alive you know are faulty is kinda senseless unless you have ways to fix the problems.

    As a poster-child for the counterpoint: Stephen Hawking

    Evolution and natural selection for stronger individuals is a thing. Has been a thing. But in no way does that imply that we can't make decisions for ourselves now that we have some idea what we're doing. That's without even considering the fact that we're going to be able to fix all this stuff in fairly short order, in terms of evolutionary time scales, so your worries about the "trend" are truly pointless.

    --
    I've fallen off your lawn, and I can't get up.
    1. Re:Really by fyngyrz · · Score: 1

      Sure. Eventually. Might as well defer till later, right?

      Good grief.

      --
      I've fallen off your lawn, and I can't get up.
  11. Health care [Re:Rapid diagnosis can be life-saving by Geoffrey.landis · · Score: 4, Insightful

    On the other hand, I don't want the government in it. Not because I don't want people to get "free" medicine, but because I think the government will screw it up, or worse, obtain control over the lives of the people who are supposed to be keeping it in check. ...

    Unfortunately, the one thing worse than having government involved is having the government not involved.

    Health care is an economic case where the assumptions that make a free market efficient don't apply. When providers have the ability to literally say "pay what we ask or die... and decide right now," there's not a lot of economic leverage available. And, worse, people making these decisions are often sick, in pain, unconscious, woozy from painkillers, or in the grips of Alzheimer's disease, and can't shop around. Unless they have insurance. But the insurance company's profit comes from kicking people off of the insurance if they get sick. The insurance companies that are most successful in figuring out ways to terminate coverage of people who are sick out-compete the ones who don't. After a while, all of the insurance companies do this-- the ones who don't go out of business.

    As a society, we have made a decision that we don't think it's right to turn people back at the emergency room just because they can't pay. So, one way or another we are paying for the health care of people who can't pay. The only question is, are we going to do this in a thought-out way? Or in a makeshift, not-thought-out way?

    --
    http://www.geoffreylandis.com
  12. Considering they adjacent rooms by thinkwaitfast · · Score: 1

    you'd think it'd be a lot faster.

  13. Except by Murdoch5 · · Score: 1

    DNA scanning doesn't always work and at best can only give you a probability of what's wrong.

  14. Re:News for not-nerds by RDW · · Score: 1

    No, it's whole genome (though most of the 'actionable' variants will be exonic and coding). If you have sequencing and computational capacity to burn, then whole genome can be very fast (and no need to mess around with an exome enrichment hybridisation). For centres without this capacity, it probably makes sense to do an exome and/or a targeted NGS panel containing only the genes where variants are diagnostically or prognostically valuable, or are actionable drug targets. Exomes on their own aren't always ideal if you're interested in specific genes rather than discovery, since coverage can be uneven, so some centres do both exomes and targeted panels. Whole genomes at reasonable depth have more even coverage.

  15. Re:Health care [Re:Rapid diagnosis can be life-sav by tnk1 · · Score: 1

    I don't think it should be free market controlled. I just don't think it should be government controlled.

    There needs to be a third way.

    The free market's treatment of health care reflects the reality that to make profit on it, you must let people die. Attempting to save everyone from every condition is never going to be profitable. It may never even be *possible* profit or not.

    The government's handling of the care is less based on the need to profit, but ultimately has it's own pitfalls. People vote themselves more benefits until it is too late. And then they get scared and either elect people who promise Reform Now! or they elect people who protect their entitlements to the last gasp, even if it pulls down the country into anarchy.

    Even when the government health care works, it encourages the government to force you to take steps like eating a certain way or doing certain things which may well be healthy, but reduces our free will.

    I really think that a non-government non-profit medical cooperative should be formed which covers medical care with no profit whatsoever, and everyone can sign up for. The plan would have to have certain limits which would accept that some people are simply going to die or live under certain limitations, but it's charter is to remain as common sense as possible about care while making patient quality of life the first concern.

    We can even elect the management, but we should not be letting general legislators be in charge of that budget. And there should be no links between the government and that entity. Information sharing with the government would be both forbidden and unnecessary.

  16. Not pre-existing by Etherwalk · · Score: 1

    It doesn't usually work like that.

    If you get a genome scan you learn you have a higher chance of developing certain problems. That doesn't make those problems an existing condition.

  17. In 26 Hours, Illusion of Diagnosis by Chalnoth · · Score: 1

    Except for a relatively small number of severe genetic disorders, the knowledge of what the genome says about human health is largely unknown. The problem is that genes work in networks, and each individual gene frequently works in multiple different networks at the same time. So it's not as simple as, "has gene variant X, therefore has disease Y." Instead, one person with gene variant X might have problems, while another might have no issue at all, because there are other genes that influence how gene variant X behaves.

    The fact that genes work in networks like this makes teasing out which genes have which effect into an unbelievably difficult statistical problem that would likely require an analysis of millions of DNA-health correlations to have any hope of attributing most gene-caused health problems. Nobody has done this kind of study yet, but there are a lot of crackpot doctors who are claiming to have this impossible knowledge already.

  18. Re:Health care [Re:Rapid diagnosis can be life-sav by manu0601 · · Score: 1

    We can even elect the management

    This is how french social healthcare was designed after WWII. Unfortunately, the government quickly removed elected administrators and legislators took duty for the budget. But today it is still separated from State main budget: They cannot take healthcare money to bomb some random foreign country.

  19. My son Kush has FoxG1, I want this to work for us by Cure_FoxG1_for_Kush · · Score: 1

    Hi this is my first post, My son has FoxG1, read his story here http://www.foxg1.com/faces-of-.... I want this to work for us. The FoxG1 foundation has identified 160 fox children, we are in touch with CompBio at MIT to run analysis / full genome sequencing / analysis for correlations anything that helps find a cure, on the 160 DNA samples and scan public databases for finding out if incidence is higher. How do we get someone to pick the bill for 160 full sequences? I got to write to the company, mentioned in this post. Slashdot community help me. Add as many contact details as you can think of or anyone who is working on anything that can remotely assist us. We want Big data/ pharma / garage start up biotech’s / pharma giants / IBM / NIH anybody to help us. We are a 5 year old foundation and are looking to set up a Scientific Advisory Board. Suggestions. We are trying our best to fix my 2 year old son so please excuse any immature brash comments from this one if you could. Slashdot is full of fantastic talent, help us change the world. For my son at least. Regards Vivek (Father to Kush)

  20. How about on foetuses? by LongearedBat · · Score: 1

    How about gene sampling foetuses? If done early enough, then expectant mothers can choose whether to abort. That way we can start filtering out known genetic diseases.

    1. Re:How about on foetuses? by Cure_FoxG1_for_Kush · · Score: 1

      Its started happening. see http://www.healthscopepatholog...

  21. Re:Health care [Re:Rapid diagnosis can be life-sav by tnk1 · · Score: 1

    Actually, I was talking more about the indirect effects.

    Why did someone try to limit the sale of large containers of soda in NYC? It was perceived that it is the government's business to determine what size container you can drink soda or other beverages from. Now, in certain cases, you could argue an immediate public safety issue if you, for instance, sold certain things like dynamite in larger containers or certain chemicals, but here we're talking about something that is being based on drinks being labelled a public health crisis, or something.

    The reason for laws like that is effectively moralizing. It is today's answer to prohibition and blue laws.

    However, if you add the responsibility for a health care system to the government's responsibilities, you will have the moralizing, and then some politician will add the comment that "it is costing our National Health Care system billions of dollars in unnecessary procedures."

    You are of the opinion that we would take the option of simply disallowing care for those behaviors, but it's not that easy. What caused this person to have poor teeth, or more brittle bones? Do you vote to prevent care to people who drink soda? Do you prevent care to people who eat red meat?

    My problem with your scenario isn't that we will not cover those things, my problem is that we *will* cover the results of those behaviors because we can't always see the root cause. And then, to alleviate those costs, we will simply outlaw or encumber activities that we *think* might cause those end results. And that regulation will fall heavily upon behaviors that are unpopular or considered morally incorrect.

    Of course, you're right. We wouldn't be affecting free will, we would be affecting liberty.