Medical experts saved the life of a critically-ill 14-year-old boy by performing a super-fast DNA test, proving the method's efficiency.
The patient was quickly diagnosed with brain-inflaming encephalitis and treated, a University of California - San Francisco. The diagnosis was completed in only 48 hours.
The case shows the power of "next-generation sequencing" (NGS) techniques in solving medical mysteries.
A workflow pipeline allowed the sample to be analyzed quickly after it was captured.
"From the perspective of cost and turnaround time, this is a very powerful technology that has become practical to implement routinely in clinical laboratories," Charles Chiu, MD, PhD, a professor of laboratory medicine at UC San Francisco (UCSF) said in the news release.
New genomics techniques could detect previously-unknown pathogens with a single test costing only a few thousand dollars.
"This is one test to rule them all," study co-author Joseph DeRisi, PhD, chair of biochemistry and biophysics at UCSF, said in the news release.
DeRisi was contacted by the boy's physician after weeks of expensive tests that were not turning up results.
Earlier tests showed the patient had been born with SCID, which is an immunodeficiency syndrome. This suggested an immune response could be what was making him so sick. The medical team administered corticosteroids, which is the appropriate treatment for autoimmune encephalitis, but this made his condition worse.
The researchers looked at "10 million distinct DNA sequences from samples of the patient's cerebrospinal fluid and blood, and from a control sample," to make a new diagnosis, the news release reported.
A tool called SURPI allowed the medical team to quickly compare and analyze the boy's DNA. It took only 96 minutes to complete.
They found the patient was infected with the bacterium Leptospira santarosai, which can be treated with common penicillin. The treatment method cleared up the infection and the patient was released from the hospital in three weeks after being on the brink of death.
