Euan Ashley and John Gorzynski were part of a team that devised a method for genome sequencing so speedy it produced results for one study participant in just over five hours. Photo Credit: Steve Fisch

HealthTechnology USA25. January 2022

Scientists Find Solutions to Diagnose Rare Diseases Fast

Scientists from Stanford University in California, United States, managed to sequence human DNA in record-breaking time – 5 hours and 2 minutes, to be exact – to diagnose rare genetic diseases, and they are hopeful to soon cut the sequencing time in half.

“I think we can halve it again,” says Euan Ashley, MB ChB, DPhil, professor of medicine, of genetics, and of biomedical data science at Stanford University. “If we’re able to do that, we’re talking about being able to get an answer before the end of a hospital ward round. That’s a dramatic jump.”

Genome sequencing is a vital method used to see a patient’s information, including DNA-rooted diseases. Thanks to a machine built at Oxford Nanopore Technologies, the genome of a person is sequenced simultaneously by the device’s 48 sequencing units or flow cells. All the data is then transferred to a cloud-based storage system to be examined in real-time. The incoming genetic code is then compared to publicly documented variants known to cause disease. This fast new approach is able to diagnose rare diseases an average of merely eight hours – a timing that’s significantly faster than medical specialists are used to! The team published their work on January 12th, showing that faster sequencing doesn’t sacrifice accuracy.

Source:
Stanford Medicine News Center

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