With a time of 26 hours, Rady Children's Hospital's Stephen Kingsmore is being included in the Guinness World Records for having performed the fastest genetic diagnosis.
Kingsmore and his colleagues described their whole-genome sequencing-based approach for diagnosing critically ill patients last fall in Genome Medicine. As GenomeWeb reported at the time, the researchers refined their STAT-seq approach to improve its sensitivity, turnaround time, and scalability, in part by relying on the Edico Genome Dragen pipeline and on modifications to the Illumina HiSeq 2500 platform, such as faster sequencing cycles.
Based on these tweaks, Kingsmore, then at Children's Mercy Hospital in Kansas City, and his colleagues pared down the time to results from 50 hours to 26 hours.
"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," Kingsmore says in a statement.
It's also a race to get into the record book.