WGS with a 26-h time from blood sample to provisional diagnosis, was achieved by the acceleration of several components. Significant time-savings were achieved with Edico Genome’s DRAGEN processor. The time taken for sequence alignment, variant detection, and genotyping was reduced from approximately 15 h in gapped alignment, and variant calling with CASAVA v1.8.2 (Illumina), to approximately 40 min with the novel DRAGEN aligner and variant caller.
By using current technology and reducing the number of technicians needed to operate the device and analyze the data, DRAGEN could lower the cost of genetic sequencing from about $3 million to $6,500 per test
Researchers at Children’s Mercy Kansas City found that more than half of 35 critically ill infants undergoing a rapid whole-genome sequencing test received a genetic diagnosis, and almost two-thirds of those diagnosed saw a change in their clinical management, suggesting clinical utility of the test for selected patients.
“This technology is even more powerful in terms of its impact on the care of these babies than we expected,” says Dr. Stephen Kingsmore, now president of the Rady Children’s Institute for Genomic Medicine at Rady Children’s Hospital – San Diego. “Fully 60% of babies being tested are getting a diagnosis.” He added that he was pleasantly surprised that not only was the speed of DRAGEN unprecedented, but so was the accuracy. “We want to empower NICUs all around the country so babies in 2015 and 2016 can see the benefits of this,” he says.