PacBio and GeneDx Launch Research Collaboration with the University of Washington to Study Long-Read Whole Genome Sequencing for Increased Diagnostic Yield in Neonatal Care

Study is first of its kind to compare diagnostic rates across short- and long-read sequencing platforms

MENLO PARK, Calif. and STAMFORD, Conn., Aug. 07, 2023 (GLOBE NEWSWIRE) -- PacBio (Nasdaq: PACB), a leading developer of high-quality, highly accurate sequencing solutions and GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today announced a research collaboration with the University of Washington to study the capabilities of HiFi long-read whole genome sequencing (WGS) to increase diagnostic rates in pediatric patients with genetic conditions.

“Over the past two years, PacBio has entered into both technology and research collaborations with leading research hospitals, health-organizations, and technology companies. We are honored to launch this new study with GeneDx and the University of Washington with the aim to bring together the power of the latest developments and capabilities applied to these critical populations,” said Christian Henry, President and Chief Executive Officer of PacBio. “Through this work, we move closer to our vision of creating a world where no family spends years on a diagnostic odyssey trying to understand the underlying genetic cause of their child’s disease or wondering whether future children will also be afflicted.”

GeneDx will perform WGS sequencing and analysis of samples from 350 people including 120 enrolled in the SeqFirst WGS study at Seattle Children’s Hospital, as well as their biological parents—duos and trios—as available. Both short- and long-read WGS will be performed as researchers explore whether novel variants not previously accessible via short-read sequencing technologies may underlie certain genetic conditions. SeqFirst, sponsored by GeneDx and in part funded by the Brotman Baty Institute, is a hub for genomic research and precision medicine, and a collaboration among three Seattle research institutions—UW Medicine, Seattle Children’s Hospital, and Fred Hutchinson Cancer Center.

“Long-read sequencing is a potential approach for interrogating whole human genomes and the novel variants inaccessible with short-read sequencing,” said Mike Bamshad, M.D., SeqFirst principal investigator, Professor and Chief of Genetic Medicine in the Department of Pediatrics at the University of Washington School of Medicine and Seattle Children's Hospital. “We look forward to these collaborative efforts to expand our understanding of causative variation in DNA from patients with certain genetic conditions.”