PacBio and GeneDx Launches Research Collaboration

What You Should Know: 

• PacBio, a developer of high-quality, highly accurate sequencing solutions and GeneDx, a provider 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.
• 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.

WGS Sequencing & Analysis

SeqFirst, sponsored by GeneDx and in part funded by the Brotman Baty Institute, is a hub for genomic research and precision medicine, and collaboration among three Seattle research institutions—UW Medicine, Seattle Children’s Hospital, and Fred Hutchinson Cancer Center. GeneDx will use the PacBio Revio sequencing system to perform all long-read WGS sequencing and analysis for this study. The study intends to determine whether the increased accuracy, read length and methylation insights offered by the Revio system will enable collaborators to better explore – and potentially increase – diagnostic yield. Aggregate sequencing data including novel variants and their frequencies identified through this study will be contributed to the Consortium of Long Read Sequencing (CoLoRS) database to advance scientific understanding of variant prevalence and classification.

“For more than twenty years, we have pioneered the development of clinical diagnostics, with the goal of ending the diagnostic odyssey for patients with rare genetic diseases,” said Gustavo Stolovitzky, Ph.D., Chief Science Officer at GeneDx. “We are excited to bring together GeneDx with PacBio and the University of Washington to explore the potential of innovative methods such as long-read sequencing to improve our ability to deliver a precise genetic diagnosis for these young children.”

diagnostics