Genomics, in a flash: A DNA sequencing world record
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Diagnostic innovation starts here
The world of science has a new record holder, and it’s a story of speed, collaboration and a revolution in next-generation sequencing (NGS).
A team from Roche Sequencing Solutions, Broad Clinical Labs and Boston Children’s Hospital has been officially recognized with a GUINNESS WORLD RECORDS™ title for the fastest DNA sequencing technique by sequencing a human whole genome in less than 4 hours with a reference sample. The work has been published in the New England Journal of Medicine.
This achievement is a major leap forward, far surpassing the previous record of 5 hours and 2 minutes. While the time itself is remarkable, its true significance lies in its potential to bring rapid genetic answers when every second counts.
Why quick results matter
In critical care settings, hours can determine the difference between unnecessary procedures versus targeted care.
Whole genome sequencing can provide the most comprehensive view of a person’s genetic information. A rapid result in whole genome sequencing can potentially allow for more precise care planning and informed conversations.
"The idea of receiving genome sequencing results within the same timeframe as other diagnostic tests that we send routinely in the NICU entirely shifts the paradigm of genomic medicine in this setting," said the study’s first author, Monica Wojcik, MD, MPH, Attending Physician, Divisions of Newborn Medicine and Genetics and Genomics at Boston Children’s Hospital and Assistant Professor of Pediatrics, Harvard Medical School and Associate Member, Broad Institute.
"For some families, this genetic result is the keystone to their entire care plan, and waiting even for 2 days is an eternity," she said.
Technology behind the speed
So how did the team achieve this unprecedented speed?
The joint effort paired Roche’s in-development sequencing by expansion (SBX) technologywith an optimized, end-to-end research workflow spanning rapid sample processing, sequencing, secondary analysis (alignment and variant calling), automated quality control, and prioritized variant review.
SBX is a new approach to NGSthat is being designed to enable faster and more-flexible sequencing.
Orchestrated handoffs across laboratory and bioinformatics minimized idle time and ensured that each segment of the pipeline was tuned for low latency without compromising data quality.
SBX was engineered for speed, accuracy and reliability. Achieving a sample to result in less than 4 hours shows what’s possible when cutting-edge chemistry, instrumentation and analysis pipelines work in concert.
Beyond the record
The collaboration went beyond just setting a record.
The timeframes potentially make it possible to create an end-to-end workflow in under 8 hours. This achievement is a practical demonstration that routine, same-day whole genome sequencing is getting closer to front-line care.
“Today, we are able to sequence human genomes faster than they’ve ever been done before,” said Niall Lennon, Ph.D., Chair and Chief Scientific Officer, Broad Clinical Labs and senior author on the study. “Together with Roche Sequencing Solutions and Boston Children’s Hospital, we demonstrated that rapid sequencing and interpretation are achievable in a matter of hours, and that brings us one step closer to a future where genetic answers can inform urgent decisions at the bedside.”
Disclaimer: SBX technology and analysis tools are in development and not commercially available. The content of this page reflects current study results or design goals.
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