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

Posted by Soulskill on from the approaching-star-trek-medicine dept.

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. 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 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.