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In June, 2014, a 14-year-old immuno-compromised boy from Wisconsin ended up in the hospital with life-threatening encephalitis requiring a medically induced coma, following undiagnosable complaints and on and off hospitalization for headaches and fevers for two years. All tests for specific pathogen suspects returned negative. As a last resort, doctors employed an experimental DNA therapy, which involved “unbiased next generation” sequencing techniques to sequence all the DNA molecules in a series of body fluid samples from the patient. This sequencing technology, coupled with just-developed bioinformatics “sequence-based ultra-rapid pathogen identification,” (SURPI) software, compared eight million DNA sequences in the boy’s samples with all known pathogen DNA sequences from National Center for Biotechnology Information (NCBI) databases, ultimately identifying a Leptospira pathogen within 48 hours. This solves the problem “that your critically ill patient will be dead by the time you make a diagnosis,” says Dr. Charles Chiu, one of the creators of this diagnostic technology. The case is a first in using sequencing to identify and facilitate treatment of microbe-borne illness; although expensive now, use of this technology for broader diagnosis of infections will certainly become more common. This case is “a demonstration that this technology has arrived,” said Dr. DeRisi biochemist and collaborator with Chiu.
(Naccache et al. 2014; Norris 2014; Wilson et al. 2014; Zimmer 2014).