Gene sequencing to map a patient’s DNA can be crucial to identifying causes of life-threatening conditions. And doing so rapidly can reduce the need for other tests, cut the time patients spend in the hospital, and expedite vital precision treatments.
“Rapid” gene sequencing has generally meant a few weeks. At Stanford Medicine, a team recently shrunk that time to just hours.
The expedited approach, described in the New England Journal of Medicine in 2022, won the team a Guinness World Record.
More important, it achieved significant patient benefits, says team leader Euan Ashley, MB ChB, DPhil, associate dean and Roger W. and Joelle G. Burnell Chair in Genomics and Precision Health at Stanford School of Medicine.
One patient in the sequencing study, a 13-year-old boy, was suffering from a dangerous cardiac condition, and his organs were beginning to shut down. The team needed to know whether the cause was a passing heart infection or an irreparable DNA mutation. After sequencing revealed a genetic cause in just a few hours, the boy was added to the transplant wait list, and three weeks later, he received a new heart. “The standard test results didn’t come back until several weeks after he had the transplant,” says Ashley.
How did the team pull off the fast approach?
They took several steps, including harnessing the power of a sequencing machine many times faster than what’s typically used. They also processed the data in real time, as soon as they got it. To avoid overloading the lab’s computer system, they also shifted to computing in the cloud. There, algorithms rapidly scanned the patient’s genetic code for aberrations, and the research team then looked for variants of concern.
The gene sequencing study in which the boy participated included just a dozen patients, but Stanford is now working to roll it out to all those who might benefit, says Ashley. He’s also heard from some 20 hospitals worldwide that hope to replicate the approach.
Ashley says he’s thrilled by the patients the team has helped already.
“For every family we meet, this may be the most significant event that happens to them in their lives,” he notes. “To be able to produce results in one nursing shift that would have taken weeks or even months is really, really exciting.”
