When it comes to fully enrolling infants in sequencing studies, parental enthusiasm sometimes seems to wane due to logistical considerations and privacy concerns.
As president and CEO of the Rady Pediatric Genomics and Systems Medicine Institute, Kingsmore will be working toward adopting genomics to transform pediatric care.
The researchers increased the test's sensitivity for nucleotide variants from less than 96 percent to 99.5 percent and reduced the time to provisional results from 50 hours to 26 hours.
The study appears to be the only one of four that has launched 15 months after the awards were made, which may or may not be related to FDA oversight of the projects.
Researchers also plan to launch a prospective randomized clinical trial to test the effectiveness of whole-genome sequencing compared to the standard of care.
Children's Mercy Hospital is poised to update its rapid whole-genome sequencing protocol, known as STAT-seq, in an effort to bring the time needed for genome sequencing and analysis down to around 24 hours.
Children's Mercy Hospital has launched a next-generation sequencing-based test that assesses the coding regions of 514 genes implicated in more than 750 severe childhood-onset diseases.
