American scientists have published a research report in the latest issue of the New England Journal of Medicine, stating that they have demonstrated through their latest experiments that rapid genome sequencing and interpretation can be completed within hours. This breakthrough not only sets a record for the fastest human whole genome sequencing to date, but also marks a major advancement in clinical medicine, with the potential to provide more precise and timely treatment for critically ill infants. At present, rapid genome sequencing commonly used in clinical practice usually takes several days from sample reception to report issuance. However, many treatment decisions in neonatal intensive care units must be made within a few hours. Although previous studies have shown that genome sequencing can be completed within a few hours, a scalable and applicable protocol for routine clinical use has not yet been developed. In the latest research, Boston Children's Hospital, Bode Clinical Laboratory, and Roche Sequencing Solutions have collaborated to simulate an efficient workflow: collecting samples from infants in the morning for genome sequencing, and completing diagnosis and issuing reports in the afternoon of the same day. The research team used an extended sequencing prototype of Roche's sequencing solution to sequence and analyze 15 human samples, including 5 historical cases from Boston Children's Hospital and 7 cases from the hospital's neonatal intensive care unit. They have achieved astonishing speed in sample processing, from extracting DNA to obtaining genetic variation data, taking only over 3 hours at the fastest time. For many families, this will completely change the diagnosis status of rare diseases. The research team stated that this achievement is one step closer to achieving "bedside genome sequencing" and is expected to be included in the routine diagnosis and treatment standards of intensive care units. (New Society)
Edit:Wang Shu Ying Responsible editor:Li Jie
Source:Science and Technology Daily
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