Study documents genome sequencing completed in just four hours

A study has documented an instance where genome sequencing and result interpretation were completed within just four hours, demonstrating the technique's feasibility for routine clinical use.

Described in an article published in the New England Journal of Medicine, the time clocked to sequence one human genome surpassed the Guinness World Record of five hours and two minutes, which was achieved by a team from the US' Stanford University on March 16, 2021.

Researchers and experts from Boston Children's Hospital and Broad Clinical Labs in the US and Switzerland-based Roche Sequencing Solutions, sequenced and analysed 15 human samples, including seven cases from the neonatal intensive care unit, over a period of three weeks.

"The mean time to generate variants from genomic DNA was four hours four minutes," the authors wrote. "In the case of blood samples that arrived at the laboratory by 7 am, we obtained an interpreted report between 2 pm and 4:30 pm the same day," they said.

The quickest duration from receiving a sample for genome sequencing to generating a report was clocked at six hours 47 minutes.

The feat represents a significant clinical development that would expedite more precise treatments to critically ill babies in neonatal intensive care, the team said.

Typically, obtaining results from whole genome sequencing can take five to over 40 days, according to a 2023 study published in the American Journal of Medical Genetics.

The recent achievement "simulates a workflow through which we could feasibly send out a genome sequencing sample from a baby in the morning and have the diagnosis or report that same afternoon," said first author Dr Monica Wojcik, attending physician at the divisions of newborn medicine and genetics and genomics at Boston Children's Hospital.

"This would truly be game-changing for rare disease diagnoses for our families, who are currently waiting for a week at best for diagnoses for their critically ill babies," Dr Wojcik said.

A few hours in the neonatal intensive care "could mean the difference between unnecessary procedures and targeted, life-saving treatment," the author said.

"The results of this study bring geneticists and clinicians one step closer to integrating point-of-care genome sequencing into the standard of care for critical care settings," Dr Wojcik said.