Roche, together with Boston Children’s Hospital and Broad Clinical Labs, has broken a major world record by sequencing a complete human genome in less than four hours. The previous record stood at five hours and two minutes.
The announcement was made at the 2025 American Society of Human Genetics (ASHG) Annual Meeting. The achievement showcases the potential of Roche’s new Sequencing by Expansion (SBX) technology, which has been developed to make genetic sequencing faster and more accurate.
“Breaking the Guinness World Record is a remarkable achievement,” said Mark Kokoris, Head of SBX Technology, Roche and inventor of the SBX chemistry. “The true impact lies in what this speed and accuracy mean for the scientific community and for understanding complex diseases such as cancer and neurodegenerative disorders.”
Why it matters
Sequencing a human genome typically takes days, and even longer in hospital settings. In critical cases, such as diagnosing rare genetic conditions in newborns, every hour counts. Roche’s breakthrough moves genomics closer to real-time medical use, where results could inform clinical decisions within the same day.
This result was achieved by improving every step of the sequencing process, from sample preparation to data analysis. Roche’s SBX method uses a unique biochemical process that temporarily expands DNA molecules to make them easier to read. The system then analyses millions of DNA fragments in parallel, increasing both speed and accuracy.
Another key feature of SBX is that it allows data to be analysed as it is generated, rather than waiting until the entire sequencing run is complete. This continuous analysis helps reduce overall turnaround time.
Looking ahead
At the ASHG meeting, Roche also announced a new collaboration with the Wellcome Sanger Institute to test SBX technology across several research areas. Early projects will explore how the technology can help scientists study the molecular basis of disease, identify new biological markers and improve early diagnosis and targeted treatments.
“These advances reflect the strong momentum behind our innovative sequencing technology and its potential to transform genomic research and clinical applications,” said Matt Sause, CEO, Roche Diagnostics. “By combining high throughput, speed and longer read lengths, SBX technology could enable research that was previously not feasible.”
The technology is still in development and is not yet commercially available. Roche plans to continue testing SBX with leading research institutes around the world to confirm its performance and explore its potential in clinical and diagnostic settings.
