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.”
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.”
PacBio has previously partnered with Google 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. 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,” said Greg
Corrado, Head of Health AI at Google.
In addition to developing informatics methods, Google will fund
key enablers (such as reagents) for this project. Google strongly
believes such collaborations will help realize their mission to
improve health outcomes by enabling collaborators to deliver what
they are best at: highly accurate sequencing from PacBio, and
clinical genetics support and patient care by GeneDx and the
University of Washington.
About SeqFirstConventional care for children
with rare diseases is often empirical, imprecise, and only modestly
effective—leaving substantial room for improvement and innovation.
The “promise” of more precise, and by inference, better care,
begins with accurate genetic diagnoses. SeqFirst is a project
that tests whether whole genome sequencing of children with
suspected developmental differences at point-of-diagnosis, as
opposed to conventional diagnostic evaluations, will lead to
earlier, more rapid diagnoses, reduce costs of these diagnoses, and
improve therapeutic outcomes. This project is in partnership with
GeneDx and Illumina. Learn more about SeqFirst at
https://www.seqfirst.org/.
About PacBioPacific Biosciences of California,
Inc. (NASDAQ: PACB) is a premier life science technology company
that is designing, developing and manufacturing advanced sequencing
solutions to help scientists and clinical researchers resolve
genetically complex problems. Our products and technology under
development stem from two highly differentiated core technologies
focused on accuracy, quality and completeness which include our
existing HiFi long read sequencing and our emerging SBB™ short-read
sequencing technologies. Our products address solutions across a
broad set of research applications including human germline
sequencing, plant and animal sciences, infectious disease and
microbiology, oncology, and other emerging applications. For more
information, please visit www.pacb.com and follow @PacBio.
PacBio products are provided for Research Use Only. Not for use
in diagnostic procedures.
About GeneDxGeneDx (Nasdaq: WGS) delivers
personalized and actionable health insights to inform diagnosis,
direct treatment and improve drug discovery. The company is
uniquely positioned to accelerate the use of genomic and
large-scale clinical information to enable precision medicine as
the standard of care. GeneDx is at the forefront of transforming
healthcare through its industry-leading exome and genome testing
and interpretation, fueled by one of the world’s largest, rare
disease data sets. For more information, please visit
www.genedx.com and connect with us on LinkedIn, Facebook, Twitter,
and Instagram.
Forward-Looking Statements
This press release contains "forward-looking statements" within
the meaning of Section 21E of the Securities Exchange Act of 1934,
as amended, and the U.S. Private Securities Litigation Reform Act
of 1995. All statements, other than statements of historical fact,
are forward-looking statements, including statements relating to
the uses, accuracy, coverage, advantages, quality or performance
of, or benefits or expected benefits of using, products or
technologies, including the Revio system; expectations regarding
the study and whether it will increase diagnostic yield, provide a
better understanding of underlying causes of disease or improve the
ability to deliver a precise genetic diagnosis for young children;
and other forward-looking statements. Readers are cautioned not to
place undue reliance on these forward-looking statements and any
such forward-looking statements are qualified in their entirety.
All forward-looking statements speak only as of the date of this
press release and are based on current expectations and involve a
number of assumptions, risks and uncertainties that could cause the
actual results to differ materially from such forward-looking
statements, including, among others, potential product performance
and quality issues; rapidly changing technologies and extensive
competition in genomic sequencing that could make the products in
development obsolete or non-competitive; supply chain risks;
customers and prospective customers curtailing or suspending
activities utilizing our products; and third-party claims alleging
infringement of patents and proprietary rights or seeking to
invalidate patents or proprietary rights. Readers are strongly
encouraged to read the full cautionary statements contained in
filings with the Securities and Exchange Commission, including the
risks set forth in Forms 8-K, 10-K, and 10-Q. PacBio and GeneDx
disclaim any obligation to update or revise any forward-looking
statements.
PacBio Contacts: Lizelda
Lopezpr@pacificbiosciences.com
Todd Friedmanir@pacificbiosciences.com
GeneDx Contacts: Tricia
TruehartInvestors@genedx.com
Maurissa MessierPress@genedx.com
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