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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."

92 comments

  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 Anonymous Coward · · Score: 0

      Pre-existing doesn't matter anymore. And it didn't matter before Obamacare either if you had healthcare through your employer or other group.

    6. 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.

    7. 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.

    8. 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.

    9. Re:That cuts both ways by Anonymous Coward · · Score: 0

      You 2 are not alone. Nice to meet Ya.

    10. 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.
    11. 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...

    12. 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.
    13. 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.

    14. 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.

    15. 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.

    16. 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.
    17. 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
    18. 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.
    19. Re:That cuts both ways by Anonymous Coward · · Score: 0

      Just FYI, you're talking to the brainwashed there. Dittoheads and Murdochians believe that anything 'socialized' is bad unless the recipients are billionaires who pulled a scam so big that the virtually crashed the world economy, or the billionaires benefiting from their financial relationships with the most expensive socialized organization anywhere, the US military.

    20. 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?

    21. 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"?

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

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

    23. Re:That cuts both ways by Anonymous Coward · · Score: 0

      We have a form of socialized healthcare already in the US. The VA system. Why would we want VA healthcare for everyone?

    24. Re:That cuts both ways by Anonymous Coward · · Score: 0

      I would generally support all health insurance excluding any condition which can be tested for prenatally. You can't have a lifetime of expensive healthcare costs if fetuses who will suffer from inborn errors of metabolism, Down's Syndrome, go on to develop Huntington's, etc. were aborted and never born in the first place.

    25. 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.

    26. Re:That cuts both ways by Anonymous Coward · · Score: 0

      Pics or it didn't happen. ;)

    27. 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?
    28. Re:That cuts both ways by s122604 · · Score: 0

      And liberals are perfectly happy slaughtering that baby the day before it was born, for any reason

      not a far slide to kill that baby the day after its born to keep Obamacare solvent.

    29. Re:That cuts both ways by Anonymous Coward · · Score: 0

      Nice little fantasy world you live in. Medicare costs more every year than Iraq has cost in total.

    30. 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.
    31. Re:That cuts both ways by Anonymous Coward · · Score: 0

      Just FYI, you're talking to the brainwashed there. Dittoheads and Murdochians believe that anything 'socialized' is bad unless the recipients are billionaires who pulled a scam so big that the virtually crashed the world economy, or the billionaires benefiting from their financial relationships with the most expensive socialized organization anywhere, the US military.

      I have a hard time understanding how you can bitch so loudly about billionaires fucking everyone over, while saying that the taxpayers should pay for their healthcare.
      Socialized Healthcare means nobody directly pays for their care, no matter how rich or poor they are it all comes out of the government coffers. Which are filled with your own taxes, so you end up paying for people like Bill Gates and Warren Buffet.

      Fuck Socialized Healthcare, let the rich pay their own way.
        Set up a simple system where people who can't afford it get direct assistance. No Insurance bullshit, no 'single-payer system' bullshit. Go to the Doctor, get your care, if you can't pay you fill out some paperwork and the bill gets covered by the taxpayers.

    32. Re:That cuts both ways by Anonymous Coward · · Score: 0

      Like the need-based college scholarship/student loan industry? What impact did that have on prices?

    33. Re:That cuts both ways by Anonymous Coward · · Score: 0

      Anyone who doesn't get a paternity test is an overly trusting sucker. The ones who are in fact the father are just LUCKY suckers.

    34. 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.

    35. Re:That cuts both ways by Anonymous Coward · · Score: 0

      I live in a country with socialized health care. Public hospitals, doctors, nurses, lpn's, specialists, orderlies. Advanced equipment, regular 'breakthroughs', the development of going from testing for each genetic disease to thousands at once came from my country (that was the 8000 days to 26 hours development, prior to this one). I hear Americans whining about public health care, and the way they did it (Obamacare) is the crappiest way of doing it, but is miles better than what they had before. Preexisting conditions isn't part of any real insurance policy. It guarantees profits for shareholders, and practically guarantees that no one qualifies. Where I live there is no insurance. Its part of the tax plan. Its about $20 per single adult, $54 for a family (per month). Most health plans in the US are more than that, and there are no pre-existing conditions. If you are an immigrant, you have to pay to get into the plan based on age. If you are 20, you pay little. Bring your sick elderly parents over, you pay about $50,000 to get in (each). We can't (and won't) provide (nearly) free health care for the whole world for those who haven't paid in a cent their whole lives. It works very well here. You can whine about your system if you want, but you made it. Don't blame anyone else for your bad system. Its all yours.

    36. Re:That cuts both ways by Anonymous Coward · · Score: 0

      Healthcare Insurance exists to share the burden of care among many people. What are you proposing? It doesn't make sense.

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

      10- seconds of googling.

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

    38. 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
    39. 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 Anonymous Coward · · Score: 0

      It will continue until it can't.

    2. 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.

    3. 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.
    4. Re: Is it just me? by Anonymous Coward · · Score: 0

      You would be making the completely wrong selection then. Mental capacity trumps all. Think of the number if potential Newtons and Einsteins who died before they could make their full contribution.

      If you are looking for something rare you don't winnow the field further with unnecessary additional criteria.

    5. Re:Is it just me? by Anonymous Coward · · Score: 0

      Just wait until they are doing pre-screenings for issues...
      Oh my sources tell me they already are.

      Now ask yourself, who (among the social classes) has access to this ability?

    6. 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.
    7. 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?
    8. 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.
    9. 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?
    10. 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 nsuccorso · · Score: 0

      Yep, that's why all the countries that have socialized healthcare hate it so very much. Poor bastards.

    5. Re:Rapid diagnosis can be life-saving. by Anonymous Coward · · Score: 0

      That is one problem with the advances in medicine we've discovered. People who should actually be dead and no longer donating to the gene pool are kept alive. The majority of them well enough to function through life and have kids. If you have a genetic flaw, you pass that onto other generations, regardless of what the doctors fixed for you. We are essentially going against evolution for every life saved.

      Maybe anyone with a genetic flaw that is saved (because it's the "humane" thing to do) should be sterilized so they cannot continue creating problems for the human race. They can still live a fulfilling life, but cannot contribute to the further de-evolution of humanity. But then every time my line of thought goes down this road I think of the movie Gattaca. Not exactly an ideal society either.

    6. 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.
    7. 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. News for not-nerds by Anonymous Coward · · Score: 0

    Genome scan? Not exome scan?

    1. 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.

  7. Yup. by Anonymous Coward · · Score: 0

    Humans are the bottleneck.
    All hail our future robotic overlords, who will be superior to humans in every way imaginable.

  8. 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

  9. 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.

  10. 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.
  11. 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?"

  12. 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 Anonymous Coward · · Score: 0

      Brains are a dime a dozen. Someone else would have thought the same things as Hawking.

    2. 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.
  13. In one Bajoran day by Anonymous Coward · · Score: 0

    Editors, please return your geek cards.

  14. 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
  15. In 26 hours after birth you are diagnosed by Anonymous Coward · · Score: 0

    and biometrically registered, down to every single base-pair of your DNA, and the people at the top decide that neither you nor your parents have anything to say about it. Truly wonderous times.

  16. Considering they adjacent rooms by thinkwaitfast · · Score: 1

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

  17. This, more of this by Anonymous Coward · · Score: 0

    We should know, from birth, what genetic issues we are going to face. This will help not only the person affected, but also the medical system, respond in an appropriate manner.

    And for those worrying about the insurance companies using the data to tag pre-existing conditions, MAYBE you should rethink the idea of making medicine a for-profit industry. I mean, what the fuck, you're putting a price on every procedure. How do you decide if a nurse giving an aspirin is a $10 procedure or a $500 procedure (and we know what anyone wanting more profit would pick).

    Medicine for profit is a sickness on society. People should be treated for their medical conditions, and given the support and help required to enable preventative medicine as well (stop drinking that 1.5 litre big gulp fat ass, and get out and go for a walk instead). And society should pay those costs, and none of it should have a profit motive.

  18. Except by Murdoch5 · · Score: 1

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

  19. remove humans from the operation by Anonymous Coward · · Score: 0

    sure, do the test on a robot! all those genome tests will be negative, way faster to do the test if you remove the human!

  20. 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.

  21. Abortion as quality control. by Anonymous Coward · · Score: 0

    From a systems perspective, what would make most sense would be to sequence and verify the genome as early as possible in the pregnancy. Any fetus not meeting the acceptance criteria of no major defects would be aborted, preventing that damaged artifact from sullying downstream systems like the social support net, institutions of education and medicine, etc.

    Insurance companies could use the fetal screening as a gate to determine what coverage your future kid would be granted. Any major defects would narrow those options to abortion and nothing else.

    And totally in line with a capitalist mindset.

  22. Humans are becoming obsolete, fast. by Anonymous Coward · · Score: 0

    >"We want to take humans out of the equation, because we're the bottleneck."
    This is how it all ends.

  23. 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.

  24. 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.

  25. 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.

  26. 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)

  27. Because computers are so reliable....... by Anonymous Coward · · Score: 0

    Didn't we just have a discussion about a trial where the defense wanted to inspect the program that flagged the defendant as the guilty party based on genetic evidence, and the company complained about trade secrets? Oh, yeah we did....

    I'll put down $20 on these things pumping out confirmed "diagnoses" for ADD / ADHD in a large number of cases.

    Bonus points for when the elementary school wants to place the kid on meds because they looked up the kid's genome profile as part of the admissions process......

  28. 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...

  29. Re:Health care [Re:Rapid diagnosis can be life-sav by Anonymous Coward · · Score: 0

    I have one small nit to pick with your post. Not all government based health care forces a reduction on free will.

    Your right to free will is not reduced, people will still have the right to make silly choices that are unhealthy but we as a collective will have the right to say we will not pay for your extra health care because of your unhealthy choices.

    Free will is your right to make a decision and to accept the consequences of your decision - we are not reducing your free will we are just enforcing a consequence of your desicion in relation to your health care and personal budget that you refused to acknowledged as your cost.

  30. Devil's Advocate by Anonymous Coward · · Score: 0

    Unfortunately, by keeping genetically defective children alive they are doing the entire human race a disservice.

    1. Re:Devil's Advocate by Anonymous Coward · · Score: 0

      More like Hitler's Advocate.

  31. 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.