It took scientists 13 years and cost about $3 billion to sequence the human genome by the time the feat was first accomplished in 2003.
Scientists from Stanford University recently sequenced a patient’s genome in just 5 hours and 2 minutes, setting the initial Guinness World Records title for the fastest DNA sequencing technique.
And using a new ultra-rapid genome sequencing approach they developed, they were able to diagnose rare genetic diseases in an average of about 8 hours — lightning fast compared with the weeks it might ordinarily take.
Genome sequencing allows scientists to examine a patient’s complete DNA makeup, offering patient-specific information about everything from eye color to whether one carries a variant that might predict disease.
It’s become a vital part of diagnosis, in cases where the disease is rooted in DNA. Once doctors know the genetic mutation they’re dealing with, they can tweak a patient’s treatment accordingly.
The Stanford group used a mega-sequencing approach that could redefine the notion of rapid testing. For patients, faster diagnoses mean fewer tests and visits to medical facilities, and less money spent.
To achieve the feat, a graduate student came up with a trick to funnel massive amounts of genomic data into a cloud-based system where amped-up computational power could sift through it in real time.
And it wasn’t just the computers that needed to be quick. Researchers in some cases literally ran samples by foot to the lab to save every possible second.
The team believes the turnaround time can be trimmed even more. And for anyone who’s ever waited for life-or-death test results, that may be the best news of all.