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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."

2 of 92 comments (clear)

  1. 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.
  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.