Stamford-based GeneDx (NASDAQ:WGS) is partnering with PacBio (NASDAQ: PACB) and 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.
According to the company, 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. GeneDx will use the PacBio Revio sequencing system to perform all long-read WGS sequencing and analysis for this study.
“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 Dr. 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.”
PacBio previously partnered with Google (NASDAQ:GOOG, GOOGL) to implement the deep learning method DeepConsensus on the Revio system and improve long-read whole genome sequencing performance with DeepVariant. Google has expanded upon this earlier technical collaboration to contribute funding for this research study.
“These collaborations will allow us to realize goals from the origin of Google Health ”“ for AI to find real applications in healthcare to help with critical and complex cases,” said Greg Corrado, head of Health AI at Google. “By contributing to solutions for the most complex cases and the least served communities, we believe we can demonstrate the usefulness and importance of such technologies in better health outcomes. Our technology being embedded with Revio is a unique opportunity for us to make a difference with every run of the instrument.”
