Boston Children's Hospital in the United States collaborated with Broad Clinical Labs and Roche Sequencing Solutions to achieve a breakthrough in whole-genome sequencing of humans - the entire sequence and interpretation was completed in less than four hours. This achievement not only broke the Guinness World Record for the fastest human whole genome sequencing in the world, but also marked a major leap in the field of clinical care, bringing faster and more accurate treatment decisions to critically ill neonatal patients. Relevant pilot study results were published today in the New England Journal of Medicine.
Currently, even the most advanced rapid genome sequencing methods often take days from sample collection to final report. However, for patients in the neonatal intensive care unit (NICU), critical treatment decisions often need to be made within hours. Although previous studies had shown that sequencing within hours was not impossible, until this breakthrough, the scientific community had not achieved a process with broad clinical application prospects.
"Our pilot simulates a process where samples are collected from babies in the morning and genetic diagnosis reports are available in the afternoon," said Dr. Monica Wojcik, director of the Department of Neonatal Medicine and Genomics at Boston Children's Hospital and first author of the paper. "This will be a game-changing innovation for the diagnosis of rare diseases. Many families currently have to wait at least a week or more for the diagnostic results of critically ill children."
During the test session, the Broad Clinical Labs team used the Extended Sequencing (SBX) prototype developed by Roche to sequence and analyze 15 human samples, including 5 historical samples from the Manton Center of Boston Children's Hospital and 7 neonatal samples from the NICU. The team has made significant progress in the speed of processing samples, and can obtain genetic variation data in less than four hours at the fastest.
Wojcik added: "In the NICU, a difference of a few hours can mean avoiding unnecessary procedures or even determining the chance of life-saving treatment. This finding brings geneticists and clinicians one step closer to incorporating point-of-care genome sequencing into the standard of critical care."
This research was supported by grants from Boston Children's Hospital, the Rare Disease Collaborative Group, the Manton Center and the National Institute of Child Health and Human Development (NICHD). Roche also provided some technical support through its cooperation with Broad Clinical Labs.
Compiled from /ScitechDaily