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.<\/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.”<\/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.<\/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<\/p>\n
![\"\"](\"https:\/\/www.newsbeep.com\/ca\/wp-content\/uploads\/2025\/08\/6cded3008b014d837d16c696f69f43ae.jpeg\"\/)
<\/p>\n","protected":false},"excerpt":{"rendered":"A new Guinness World Record for fastest whole human genome sequencing has been achieved, with researchers breaking down…\n","protected":false},"author":2,"featured_media":220623,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[25],"tags":[106119,106117,49,48,12378,316,10978,106118,10571,66,106120],"class_list":["post-220622","post","type-post","status-publish","format-standard","has-post-thumbnail","category-genetics","tag-boston-children","tag-boston-childrens-hospital","tag-ca","tag-canada","tag-genetic-analysis","tag-genetics","tag-genome-sequencing","tag-guinness-world-record","tag-researchers","tag-science","tag-yale-medicine"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts\/220622","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/comments?post=220622"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts\/220622\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/media\/220623"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/media?parent=220622"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/categories?post=220622"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/tags?post=220622"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}