Researchers Achieve Fastest Genome Sequencing in Under Four Hours

Researchers have achieved a remarkable feat in medical science by setting a new world record for the fastest whole human genome sequencing, completing the task in just 3 hours and 57 minutes. This significant breakthrough, reported on October 15, 2025, in the New England Journal of Medicine, surpasses the previous record of 5 hours and 2 minutes.

This rapid sequencing technology holds the potential to transform treatment protocols for critically ill newborns in neonatal intensive care units (NICUs), enabling same-day genetic analysis. According to lead researcher Dr. Monica Wojcik, an attending physician in newborn medicine and genetics at Boston Children’s Hospital, this advancement can significantly reduce the diagnostic wait times that currently span up to a week.

Implications for Critical Care

Dr. Wojcik emphasized the urgency of timely genetic analysis, stating, “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.” She noted that in the NICU, a few hours could be crucial, determining the difference between unnecessary procedures and targeted, life-saving treatments.

Whole genome sequencing examines all of a person’s genetic material, translating the approximately 3 billion DNA base pairs that contribute to individual health. This analysis can identify mutations linked to various health conditions, enabling tailored treatments for patients.

The study involved sequencing and analyzing the genomes of 15 children, utilizing next-generation sequencing technology developed by Roche Sequencing Solutions. The samples included five historical cases from the Boston Children’s Manton Center for Orphan Disease Research, alongside seven from the NICU.

Technological Innovations Driving Speed

The new sequencing method, known as sequencing by expansion (SBX), was specifically designed for efficiency, accuracy, and reliability. Mark Kokoris, head of SBX Technology at Roche Sequencing Solutions, stated, “Achieving a sample to result in less than four hours shows what’s possible when cutting-edge chemistry, instrumentation, and analysis pipelines work in concert.”

On average, the researchers completed whole genome sequencing in 4 hours and 4 minutes, with the longest analysis taking 4 hours and 25 minutes. Blood samples collected by 7 a.m. were returned with both an analysis and an interpretive report between 2 p.m. and 4:30 p.m. the same day.

Senior researcher Niall Lennon, chair and chief scientific officer at Broad Clinical Labs, remarked, “Today, we are able to sequence human genomes faster than they’ve ever been done before. We demonstrated that rapid sequencing and interpretation are achievable in a matter of hours, bringing us closer to a future where genetic answers can inform urgent decisions at the bedside.”

This breakthrough not only sets a new standard in genetic research but also promises to enhance the quality of care for newborns facing severe health challenges due to genetic conditions. The ability to conduct same-day genome analyses could revolutionize the treatment landscape for these vulnerable patients.

For further information on whole genome sequencing, resources are available through Yale Medicine and other reputable institutions.