World’s Fastest DNA Sequencing Technique to Revolutionize NICU Genomic Care

Many infants with rare genetic disorders deteriorate quickly while clinicians wait for diagnostic insights to guide treatment. Now, researchers have developed a groundbreaking workflow capable of performing rapid genomic sequencing and analysis in just hours, setting a world record for the fastest human whole genome sequencing to date.

The breakthrough comes from a collaboration between Boston Children’s Hospital (Boston, MA, USA), Broad Clinical Labs (Cambridge, MA, USA), and Roche Sequencing Solutions (Pleasanton, CA, USA). Together, the team demonstrated that ultra-fast genome sequencing and interpretation can move from concept to clinical reality, potentially reshaping genetic diagnostics for infants in critical care.

The process used Roche’s Sequencing by Expansion (SBX) prototype — an advanced platform that sequences and interprets DNA at unprecedented speed. Researchers at Broad Clinical Labs applied the technology to 15 human samples, including seven from Boston Children’s NICU and five historical cases from the hospital’s Manton Center for Orphan Disease Research. The fastest genome analysis was completed in under four hours, identifying genetic variants directly from the extracted DNA.

Current rapid genomic sequencing methods available in hospitals typically take several days from sample receipt to report generation. In contrast, the new approach compresses this timeframe to mere hours, offering the possibility for same-day diagnosis and treatment. The pilot study results, published in the New England Journal of Medicine, mark a transformative step for genetic medicine in neonatal intensive care, allowing physicians to move from broad, symptom-based approaches to precise, gene-informed treatment decisions.

With proof-of-concept success, the team envisions scaling this technology for broader hospital use, enabling rapid, on-demand sequencing across critical care units. Such an advancement could redefine how hospitals approach the diagnosis and treatment of rare diseases, giving doctors and families vital answers when they are needed most.

“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, the study’s first author. “In the NICU, a few hours could mean the difference between unnecessary procedures and targeted, life-saving treatment. 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.”

Related Links:
Boston Children’s Hospital
Broad Clinical Labs
Roche Sequencing Solutions