Sequencing Illness: A Mystery Cured

An unnamed 14-year-old boy presented to the hospital three times complaining of fevers and headache.  Doctors ran the usual battery of tests for infection, tried to grow cultures from his blood and, when brain swelling forced doctors to put the boy in an induced coma, they completed a brain biopsy.  Everything came up inconclusive.  Luckily, his family was able to enroll him in a clinical trial where they would use a new, rapid genetic sequencing technique which would analyze all DNA in a sample, not just DNA belonging to the patient.  In this way the doctors’ found DNA belonging to foreign host, Leptospirosis in his spinal fluid.  A leptospirosis infection is easily treated with penicillin and the boy returned home after a month of therapy.  The conclusion: we have the technology, but will hospitals invest in it?  The sequencer used cost S100,000 and each test costs $2000.  Fortunately, doctors in the ABC article seem to hope that long term the cost-analysis will favor adapting this technology to prevent waste on tests that are outdated and outmoded.  Oh and saving people’s lives, that too.  Stay tuned.

(Leptospirosis Image Credit: Wikipedia Commons)

(Leptospirosis Image Credit: Wikipedia Commons)

Read the NBC article based on the New England Journal of Medicine case file.

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