Boston researchers sequenced a full human genome in record time, under four hours. The advance could speed life-saving diagnoses for newborns in intensive care.
Boston Children’s Hospital, in collaboration with Broad Clinical Labs and Roche Sequencing Solutions, has shown that whole genome sequencing and interpretation can now be completed within just a few hours.
This achievement not only establishes a new Guinness World Record for the fastest human whole genome sequencing ever conducted, but also marks a major step forward in clinical care, paving the way for faster and more accurate treatment decisions for critically ill newborns in the NICU. The team’s pilot findings were published today in the New England Journal of Medicine.
Addressing the urgent needs of neonatal care
Currently, even the most advanced rapid genomic sequencing methods typically require several days (from sample collection to final report). However, in the NICU, many critical treatment choices must be made within hours. Although previous studies have shown that sequencing within hours is possible, none have demonstrated a workflow practical enough for widespread clinical use until now.
“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, MD, MPH, Attending Physician, 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.”
Testing the sequencing system
Broad Clinical Labs team used Roche Sequencing Solutions’ sequencing by expansion (SBX) prototype to sequence and analyze 15 human samples, including 5 historical cases from the Boston Children’s Manton Center (where Dr. Wojcik is the Medical Director) and 7 from the Boston Children’s NICU. They achieved remarkable speed in processing the samples, with the fastest taking less than four hours to get data on the genetic variants from the extracted DNA.
“In the NICU, a few hours could mean the difference between unnecessary procedures and targeted, life-saving treatment,” continued 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.”
Reference: “Toward Same-Day Genome Sequencing in the Critical Care Setting” by Monica H. Wojcik, Katie Larkin, Michelle Cipicchio, Austin Doupnik, Chen Zhao, Cynthia Cech, Douglas Lopez, Jagadeeswaran Chandrasekar, Joanne Leadbetter, John Mannion, Kendall Berg, Mahdi Golkaram, McKenna Osentowski, Megan Freer, Taylor Lehmann, Won-Mean Lee, Emily Ormbrek, Marc J. Prindle, Melud Nabavi, Amal Chaturvedi, Chuck Seberino, Daniel N. Baker, Cara Williams, Diana Toledo, Edyta Malolepsza, Mark Fleharty, Andrea Oza, Sophie Low, Alan H. Beggs, Casie A. Genetti, Gwendolyn Strickland, Katherine N. Anderson, Wendy K. Chung, Heidi L. Rehm, Sean Hofherr, Mark Kokoris and Niall Lennon, 14 October 2025, New England Journal of Medicine.
DOI: 10.1056/NEJMc2512825
Supported by Boston Children’s Hospital, which provided institutional support for DNA sequencing and variant analysis for some participants through the Children’s Rare Disease Collaborative, the Manton Center, and the Intellectual Developmental Disabilities Research Center Molecular Genetics Core Laboratory funded by a grant (P50HD105351) from the National Institutes of Health National Institute of Child Health and Human Development, and by in-kind funding from Roche as part of a collaboration agreement with Broad Clinical Labs.
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