Genomic research collaboration

PacBio, a leading developer of high-quality, highly accurate sequencing solutions and GeneDx, a leader in delivering improved health outcomes through genomic and clinical insights, have 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 paediatric patients with genetic conditions.

"Over the past two years, we have entered into both technology and research collaborations with leading research hospitals, health-organisations and technology companies. We are honoured 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 CEO 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 Paediatrics 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."

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 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 20 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, 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."

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