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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."

5 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 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.

    3. 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.

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      We used to have a Bill of Rights. Now, with the rights gone, all we have left is the bill.
  2. 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?

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    http://www.geoffreylandis.com