26 hours, a new World Record for speedy genetic diagnosis
Stephen Kingsmore sets Guinness World Record for fastest genetic diagnosis
Guinness World Records have been awarded for many things. Skateboarding dogs, collections of garden gnomes, even most toilet seats broken by a single person’s head in one minute*.
Stephen Kingsmore, president and CEO of Rady Children’s Institute for Genomic Medicine at Rady Children’s Hospital, San Diego, has set the record for fastest genetic diagnosis. Advances in rapid whole genome sequencing enabled Dr Kingsmore to successfully diagnose critically ill newborn patients in just 26 hours.
Over 20% of infant deaths are caused by genetic illnesses, and up to one third of admissions to neonatal intensive care are caused by genetic illnesses. Early initiation of therapy can help to prevent life-threatening illnesses or long-term disability, making rapid genetic diagnosis an extremely valuable tool.
Announced on April 25 to coincide with National DNA Day, the new record was made possible by one of Illumina’s HiSeq 2500 high-throughput sequencing machines, and Edico Genome’s DRAGEN processor. Dr Kingsmore conducted the work while serving as the executive director of Medical Panomics at Children’s Mercy Kansas City.
“Diagnosing acutely ill babies is a race against the clock, which is why it’s so essential for physicians to have access to technology that will provide answers faster and help set the course of treatment,” Dr. Kingsmore said.
“My work at Children’s Mercy Kansas City that led to this recognition would not have been possible without our key technology partners Edico Genome and Illumina, who share a vision for unraveling mysteries of disease and giving hope to families with ill newborns. I look forward to collaborating with both parties to implement this approach at Rady Children’s Institute for Genomic Medicine and ultimately neonatal and pediatric intensive care units across the country.”
Clinical sequencing is becoming more and more feasible, as the price point for whole genomes continues to fall. As the data becomes cheaper to acquire, new challenges arise in how to manage increasingly more massive data files.
“A growing hurdle for genomic medicine is the time required to analyze big data generated by sequencing instruments, a need that is clearly illustrated by the plight of critically ill newborns,” said Pieter van Rooyen, Ph.D., chief executive officer of Edico Genome. “We applaud Dr. Kingsmore’s tireless work to find rapid answers for newborns and families desperately searching for diagnoses. We are proud that our DRAGEN bio-IT processor could play a role in this milestone for genomic medicine.”
*46. In case you were wondering.