ӳ����ý

, in collaboration with Roche Sequencing Solutions and Boston Children’s Hospital, today announced official recognition by Guinness World Records for achieving the fastest DNA sequencing technique to date. Leveraging Roche’s new SBX sequencing technology¹ and a streamlined, integrated workflow, the teams completed sequencing and analysis of the whole human genome in less than 4 hours, surpassing the previous benchmark of 5 hours and 2 minutes.

The team subsequently applied this process to samples obtained from the Boston Children’s Hospital neonatal intensive care unit to demonstrate a same day workflow from blood to report. The work was described today in the . 

This achievement demonstrates that it is possible to create a timeframe in which a lab can receive a sample and return actionable information back in under 8 hours and still keep pace with a high-volume neonatal intensive care unit — a great improvement from current timeframes, which are at least 2 days but more frequently greater than 5 days. This difference could be profoundly beneficial. 

“Today, we are able to sequence human genomes faster than they’ve ever been done before,” said Niall Lennon, chair and chief scientific officer, ӳ����ý 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.”

Whole genome sequencing offers the most comprehensive view of a patient’s genetic information, enabling clinicians to uncover variants associated with rare diseases, clarify uncertain diagnoses, and guide treatment decisions. In critical care environments such as the neonatal and pediatric intensive care units (NICU/PICU), hours can determine the difference between unnecessary procedures and targeted care. Accelerating the workflow through faster genome sequencing can shorten the diagnostic odyssey, leading to timely interventions, more precise care planning, and informed discussions with families.

"The idea of receiving genome sequencing results within the same timeframe as other diagnostic tests that we send routinely in the NICU has the potential to entirely shift the paradigm of genomic medicine in this setting," said the study’s first author, Monica Wojcik, attending physician at Boston Children’s Hospital, assistant professor of pediatrics at Harvard Medical School, and associate member of the ӳ����ý. "For some families, this genetic result is the keystone of their entire care plan, and waiting even for 2 days is an eternity."

The ӳ����ý (ӳ����ý Clinical Labs’ parent organization) has a long history of innovation and execution to accelerate the pace of biomedical research, dating all the way back to the Human Genome Project. This new joint effort successfully paired Roche’s in-development SBX technology with an optimized, end-to-end workflow, encompassing rapid sample processing, sequencing, secondary analysis (alignment and variant calling), automated quality control, and prioritized variant review. The streamlined approach, facilitated by orchestrated handoffs across laboratory and bioinformatics teams, ensured efficiency without compromising data quality.

Mark Kokoris, head of SBX Technology, Roche Sequencing Solutions, said, “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.”

Note
[1] SBX technology is in development and not commercially available. The study was conducted for research purposes only and no diagnosis was performed.

All trademarks used or mentioned in this release are protected by law.

Adapted from a issued by ӳ����ý Clinical Labs.