This breakthrough is one step closer to making same-day genetic analysis available for patients in crisis, researchers said.<\/p>\n
Specifically, the advance could make it easier to craft targeted treatments for critically ill babies in the neonatal intensive care unit based on their genetics, researchers said.\n<\/p>\n
“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<\/a>, an attending physician in newborn medicine and genetics and genomics at Boston Children’s Hospital.<\/p>\n “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.”\n<\/p>\n 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, Yale Medicine<\/a> states.<\/p>\n Doctors can use such sequencing to find mutations in a person’s genetics that could be contributing to health problems or abnormalities.<\/p>\n 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.<\/p>\n 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.<\/p>\n The new tech, called sequencing by expansion, or SBX, “was engineered for speed, accuracy and reliability,” Mark Kokoris<\/a>, head of SBX Technology at Roche Sequencing Solutions, said in a news release.<\/p>\n “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.<\/p>\n On average, researchers completed the whole genome sequencing within 4 hours 4 minutes, with the longest analysis taking 4 hours 25 minutes.<\/p>\n 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.\n<\/p>\n “Today, we are able to sequence human genomes faster than they’ve ever been done before,” senior researcher Niall Lennon<\/a>, chair and chief scientific officer of Broad Clinical Labs, said in a news release.<\/p>\n “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.<\/p>\n More information<\/b><\/p>\n
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