A team at the San Diego-based Rady Children's Institute for Genomic Medicine — in collaboration with Illumina — sequenced a whole genome in just 19.5 hours, marking a new Guinness world record, according to The San Diego Union-Tribune.
Illumina's NovaSeq 6000 Sequencing System helped cut the time it takes to identify all 3 billion pairs of molecules in a patient's DNA to about 15 hours. The researchers, deploying an array of other technologies, used a new generation of high-density flow cells that hold chunks of DNA while they're scanned with a laser so they can be digitally reassembled for analysis.
However, the 19.5 hour record is only considered proof of concept, and the team will need additional time to work out the kinks in the sequencing system before it is ready to be used in a clinical setting. For now, the institute is bound to its fastest sequencing time of 37 hours, which is still the shortest turnaround in pediatric medicine, according to The San Diego Union-Tribune.
For some patients, the speed at which they receive a genetic diagnosis is critical, explained Rady's President and CEO Stephen Kingsmore, who has a doctorate in systems biology. Without genetic testing, physicians are forced to play weekslong guessing games riddled with more trial and error treatments.
Decreasing the time it takes to get a genetic diagnosis creates the potential of a standard hospital-based genetic test.
"That's really our dream, that doctors would be able to order genetic analysis with the same routine they use for their other standard labs and get the results back in pretty much the same time frame," clinical lab director Shimul Chowdhury, PhD, told The San Diego Union-Tribune.
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