A collaboration between Boston Children’s Hospital, Broad Clinical Labs, and Roche Sequencing Solutions has set a new world record for the fastest human whole genome sequencing, completing the process in under four hours. The study, published in the New England Journal of Medicine, demonstrates that near-real-time genomic testing could soon support urgent clinical decisions in neonatal intensive care units (NICUs).
Current rapid sequencing workflows can take several days from sample to report, a timescale often too slow for newborns with critical conditions. In this pilot study, the research team showed that sequencing and analysis could feasibly occur within the same working day. “Our pilot simulates a workflow through which we could feasibly send out a genome sequencing sample from a baby in the morning and have the diagnosis/report that same afternoon,” said Monica Wojcik, Attending Physician in the Divisions of Newborn Medicine and Genetics and Genomics at Boston Children’s and the study’s first author. “This would truly be game-changing for rare disease diagnoses for our families, who are currently waiting for a week—at best—for diagnoses for their critically ill babies.”
The Broad Clinical Labs team used Roche’s sequencing by expansion (SBX) prototype to sequence and analyze 15 human samples, including seven from Boston Children’s NICU. The fastest run generated variant data in less than four hours from extracted DNA.
“In the NICU, a few hours could mean the difference between unnecessary procedures and targeted, life-saving treatment,” said Wojcik. “The results of this study bring geneticists and clinicians one step closer to integrating point-of-care genome sequencing into the standard of care for critical care settings.”
Publication Details
Wojcik, M. H., Larkin, K., Cipicchio, M., Doupnik, A., Zhao, C., Cech, C., ... & Lennon, N. (2025). Toward Same-Day Genome Sequencing in the Critical Care Setting. New England Journal of Medicine. doi:10.1056/NEJMc2512825
Current rapid sequencing workflows can take several days from sample to report, a timescale often too slow for newborns with critical conditions. In this pilot study, the research team showed that sequencing and analysis could feasibly occur within the same working day. “Our pilot simulates a workflow through which we could feasibly send out a genome sequencing sample from a baby in the morning and have the diagnosis/report that same afternoon,” said Monica Wojcik, Attending Physician in the Divisions of Newborn Medicine and Genetics and Genomics at Boston Children’s and the study’s first author. “This would truly be game-changing for rare disease diagnoses for our families, who are currently waiting for a week—at best—for diagnoses for their critically ill babies.”
The Broad Clinical Labs team used Roche’s sequencing by expansion (SBX) prototype to sequence and analyze 15 human samples, including seven from Boston Children’s NICU. The fastest run generated variant data in less than four hours from extracted DNA.
“In the NICU, a few hours could mean the difference between unnecessary procedures and targeted, life-saving treatment,” said Wojcik. “The results of this study bring geneticists and clinicians one step closer to integrating point-of-care genome sequencing into the standard of care for critical care settings.”
Publication Details
Wojcik, M. H., Larkin, K., Cipicchio, M., Doupnik, A., Zhao, C., Cech, C., ... & Lennon, N. (2025). Toward Same-Day Genome Sequencing in the Critical Care Setting. New England Journal of Medicine. doi:10.1056/NEJMc2512825