• Posted October 17, 2025

World Record Set For Fastest Genome Sequencing

A new Guinness World Record for fastest whole human genome sequencing has been achieved, with researchers breaking down a patient’s genetic profile in less than four hours.

The 3-hour 57-minute analysis surpassed the previous record of 5 hours and 2 minutes, researchers reported Oct. 15 in The New England Journal of Medicine.

This breakthrough is one step closer to making same-day genetic analysis available for patients in crisis, researchers said.

Specifically, the advance could make it easier to craft targeted treatments for critically ill babies in the neonatal intensive care unit (NICU) based on their genetics, researchers said.

“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 lead researcher Dr. Monica Wojcik, an attending physician in newborn medicine and genetics and genomics at Boston Children’s Hospital.

“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,” Wojcik said in a news release. “In the NICU, a few hours could mean the difference between unnecessary procedures and targeted, life-saving treatment.”

Whole genome sequencing involves analyzing all of a person’s genetics, translating all of the 3 billion DNA base pairs that contribute to each individual’s being, according to Yale Medicine.

Doctors can use such sequencing to find mutations in a person’s genetics that could be contributing to health problems or abnormalities.

For the study, researchers sequenced and analyzed 15 children’s genomes at a rate of one or two per day, using next-generation sequencing technology developed by the pharmaceutical company Roche.

The samples included five historical cases from the Boston Children’s Manton Center for Orphan Disease Research, and seven straight from the Boston Children’s NICU.

The new tech, called sequencing by expansion (SBX), “was engineered for speed, accuracy and reliability,” Mark Kokoris, head of SBX Technology at Roche Sequencing Solutions, said in a news release.

“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,” added Kokoris, who was not involved in the study.

On average, researchers completed the whole genome sequencing within 4 hours 4 minutes, with the longest analysis taking 4 hours 25 minutes.

Blood samples that arrived in the lab 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.

“Today, we are able to sequence human genomes faster than they’ve ever been done before,” senior researcher Niall Lennon, chair and chief scientific officer of Broad Clinical Labs, said in a news release.

“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,” Lennon said.

More information

Yale Medicine has more on whole genome sequencing.

SOURCES: Boston Children’s Hospital, news release, Oct. 15, 2025; Broad Clinical Labs, news release, Oct. 15, 2025; New England Journal of Medicine, Oct. 15, 2025