Pacific Biosciences of California, Inc. (Nasdaq: PACB), a leading
provider of high-quality, long-read sequencing platforms, today
announced that Children’s Mercy Kansas City, one of the nation’s
top pediatric medical centers, has increased its investment in
highly accurate HiFi sequencing with four new Sequel IIe Systems to
add to its two existing Sequel IIe Systems. These additional
systems will significantly increase Children’s Mercy’s large-scale
whole genome sequencing capacity and help accelerate its
initiatives focused on identifying potential disease-causing
genetic variants and increasing solve rates for families and
children living with undiagnosed rare diseases.
In October 2020, Children’s Mercy and PacBio announced a
research collaboration focused on long-read whole genome sequencing
of rare disease cases for which previous short-read whole genome
and exome sequencing studies yielded no answers. The study, which
is currently underway, has already resulted in the detection of
multiple new diagnoses, including a novel expansion disorder,
precise definition of breakpoints and orientation of structural and
copy number variants, and the identification of novel inversions.
Based on the success of that collaborative effort, Children’s Mercy
is scaling their sequencing capacity with the goal of completing
PacBio HiFi whole genome sequencing for approximately 1,000
exome-negative cases over the next 12 months.
“Thousands of children do not have a clear explanation for what
are likely genetic-driven diseases. We are committed to addressing
this challenge by refining genomic sequencing to achieve a
higher-resolution view of all DNA variation using technologies such
as the Sequel IIe System,” said Tomi Pastinen, MD, PhD, Director of
the Center for Pediatric Genomic Medicine at Children’s Mercy. “The
accuracy and completeness of genomes provided by PacBio’s HiFi
reads from the Sequel IIe System have already helped us explain
seemingly intractable cases. We expect HiFi whole genome sequencing
to help us shorten the diagnostic journey for families not helped
by current clinical genome or exome sequencing. Studying the
genetics of thousands of children will help us make rapid progress
against unknown genetic diseases and lead the way for more children
and families in need.”
The PacBio Sequel IIe System generates HiFi sequencing reads,
which provide the accuracy and completeness required for
investigating DNA variation in rare genetic diseases. Short-read
whole genome sequencing can lead to sequence gaps and incomplete
coverage of disease-causing gene regions. HiFi whole genome
sequencing produces reads approximately 100 times longer than
short-read whole genome sequencing, providing high-quality mapping
across a genome for comprehensive variant detection. As part of
their collaboration, scientists at Children’s Mercy and PacBio will
take advantage of the ability of HiFi sequencing data to reproduce
all variants previously detected by short-read whole exome and
whole genome methods and to identify novel variants that could
explain disease phenotypes.
“At least half of known rare disease cases have not been
explained with existing short-read sequencing or other techniques.
As a result, we are seeing tremendous interest in HiFi sequencing
as an important new tool for detecting large or challenging
variants missed by short reads, with early successes showing the
enormous promise of this exciting technology,” said Christian
Henry, President and Chief Executive Officer of Pacific
Biosciences. “We are proud to support Children’s Mercy, which for
more than 120 years has been committed to the mission of creating a
world of well-being for children. It is important to remember that
each of these explained cases represents a family that is now
closer to the end of their diagnostic odyssey. We look forward to
continuing our collaboration and working every day to bring
advanced genomic technologies to help people live longer, healthier
lives.”
The six PacBio Sequel IIe Systems will be installed in the new
Children’s Mercy Research Institute (CMRI) building, which was
opened on February 18, 2021. The Institute’s new nine-story,
375,000-square-foot building features state-of-the-art laboratories
that will support a collaborative approach to research, fostering a
partnership among healthcare professionals, researchers, patients,
and families. For more information about CMRI, please visit:
www.childrensmercy.org/childrens-mercy-research-institute.
Findings from the PacBio and Children’s Mercy research
collaboration will be delivered in a platform presentation at the
ACMG Annual Clinical Genetics Meeting, April 15, 2021. The
presentation, titled, “Clinical Application of Long-Read Sequencing
in Unsolved Rare Disease,” will be given by Emily Farrow, PhD, CGC,
Director, Laboratory Operations, Genomic Medicine Center,
Children’s Mercy Kansas City. More information can be found online
at www.acmgmeeting.net.
About Children’s Mercy Kansas CityFounded in
1897, Children’s Mercy is one of the nation’s top pediatric medical
centers. With not-for-profit hospitals in Missouri and Kansas, and
numerous specialty clinics in both states, Children’s Mercy
provides the highest level of care for children from birth through
the age of 21. U.S. News & World Report has repeatedly ranked
Children’s Mercy as one of “America’s Best Children’s Hospitals.”
For the fifth time in a row, Children’s Mercy has achieved Magnet
nursing designation, awarded to only about eight percent of all
hospitals nationally, for excellence in quality care. Its faculty
of more than 800 pediatric subspecialists and researchers across
more than 40 subspecialties are actively involved in clinical care,
pediatric research, and educating the next generation of pediatric
subspecialists. Thanks to generous philanthropic and volunteer
support, Children’s Mercy provides medical care to every child who
passes through its doors, regardless of a family’s ability to pay.
For more information about Children’s Mercy and its research, visit
childrensmercy.org. For breaking news and videos, follow us on
Twitter, YouTube and Facebook.
About Pacific BiosciencesPacific Biosciences of
California, Inc. (NASDAQ: PACB) is empowering life scientists with
highly accurate long-read sequencing. The company’s innovative
instruments are based on Single Molecule, Real-Time (SMRT®)
Sequencing technology, which delivers a comprehensive view of
genomes, transcriptomes, and epigenomes, enabling access to the
full spectrum of genetic variation in any organism. Cited in
thousands of peer-reviewed publications, PacBio® sequencing systems
are in use by scientists around the world to drive discovery in
human biomedical research, plant and animal sciences, and
microbiology. 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.
Forward-Looking StatementsAll statements in
this press release that are not historical are forward-looking
statements, including, among other things, statements relating to
market leadership and uses, accuracy, quality or performance of, or
benefits of using, our products or technologies, including HiFi and
SMRT technology, the suitability or utility of our methods,
products or technologies for particular applications or projects,
including in connection with rare disease research, the ability of
the Company to be successful in reaching its technological and
commercial potential, and other future events. You should not place
undue reliance on forward-looking statements because they involve
known and unknown risks, uncertainties, changes in circumstances
and other factors that are, in some cases, beyond Pacific
Biosciences’ control and could cause actual results to differ
materially from the information expressed or implied by
forward-looking statements made in this press release. Factors that
could materially affect actual results can be found in Pacific
Biosciences’ most recent filings with the Securities and Exchange
Commission, including Pacific Biosciences’ most recent reports on
Forms 8-K, 10-K and 10-Q, and include those listed under the
caption “Risk Factors.” Pacific Biosciences undertakes no
obligation to revise or update information in this press release to
reflect events or circumstances in the future, even if new
information becomes available.
Contacts
For Children’s Mercy Kansas City Marlene Bentley
816.302-0363mjbentley@cmh.edu
For PacBioMedia: Colin Sanford
203.918.4347colin@bioscribe.com
Investors: Trevin Rard 650.521.8450ir@pacificbiosciences.com
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