BOSTON, Oct. 7, 2015 /PRNewswire/ -- Today, Claritas
Genomics, Inc., announced the launch of its Claritas Clinical
Exome, at the Annual Meeting of the American Society of Human
Genetics running 10/6 – 10/10 in Baltimore, MD. This novel diagnostic test is
the first to exploit the strengths of multiple DNA sequencing
platforms simultaneously to deliver confirmed results for a
patient's clinical whole exome within 4 weeks, compared to the
industry standard of 12 weeks or more. Patients with rare disease
typically seek a diagnosis for 8-12 years, receiving 3-5 separate
tests at a high cost.
The sequential testing approach can now be replaced by a single
test. The Claritas approach takes advantage of an innovative
dual-capture, dual-platform method that immediately confirms more
than 90% of all genetic variants in the exome, facilitating rapid
analysis, interpretation, and return of clinically-relevant
results. The Claritas Clinical Exome encompasses
approximately 97% of the entire exonic coding region of the genome
at >20X coverage (mean coverage of 100x) by the Illumina
NextSeqTM and immediate confirmation on the Life Ion
ProtonTM Platform.
"Claritas is focused on delivering answers to help children
affected by genetic disorders, and do so rapidly, cost effectively,
and at the highest quality standards possible," said Patrice Milos, President and CEO of Claritas
Genomics. "The Claritas Clinical Exome we launched today
offers patients and caregivers the opportunity to engage in
pediatric precision medicine as routine clinical care."
Multiple Options for Clinical Care
The Claritas Clinical Exome is designed for complex
pediatric presentations in which overlapping phenotypes, the
patient's symptoms, make selection of a defined region of interest
gene set, or panel test, difficult. If clinical presentations are
clear, the coverage and accuracy of the Claritas Clinical
Exome gives healthcare providers the option to choose focused
Regions of Interest tests from a set of pre-defined gene
lists, thereby replacing lengthy and expensive sequential gene
panel testing. The first gene sets available today cover pediatric
neurology, which targets conditions including neuromuscular
disorders, epilepsy and seizures. Claritas will launch other tests
later this year. If the Region of Interest test result is
inconclusive, healthcare providers can choose to have their
patient's whole exome analyzed.
"Many clinical providers want the focus, coverage, accuracy and
price of a small gene panel with the options and flexibility to
quickly look more comprehensively at the whole exome if the smaller
gene set does not provide answers," said Scott Pomeroy, MD, PhD, Neurologist-in-Chief and
Chair of the Department of Neurology at Boston Children's Hospital.
"It is highly desirable to look first at a small gene set that is
closely tied to clinical presentation on an exome platform and then
have the option to look beyond those genes if the results are
inconclusive."
Given the incomplete knowledge of the variants underlying rare
disease, even the most advanced gene panels will yield inconclusive
results for many patients. In these more difficult cases,
healthcare providers can have access to Claritas' partner WuXi
NextCODE's Clinical Sequence Analyzer™, which facilitates new
insight into patients' disorders by providing unrivalled power for
systematically scanning the entire exome sequence to identify novel
and de novo disease-causing mutations. This integrated solution
offers a full range of sophisticated yet intuitive interpretation
and data visualization tools, making it possible to determine
causal variants in a much higher proportion of cases than panels
alone, thus providing healthcare providers and a much greater
number of patients with critical information and recommendations
for guiding treatment and care.
About WuXi NextCODE
WuXi NextCODE offers uniquely
comprehensive and integrated capabilities for using the genome to
better diagnose disease and create better medicine. These include a
full range of sequencing services through our CLIA-certified
laboratory; the world's leading genome interpretation system; a
novel database architecture that makes it possible to query,
manage, store and share massive genomic data with unrivalled speed
and efficiency; and the know-how and experience to apply genomics
to optimize every aspect of drug discovery and development. With
offices in Shanghai; Cambridge, Massachusetts; and Reykjavik, Iceland, we enable clinicians and
researchers at institutions and companies worldwide to use the full
power of the genome to deliver precision medicine and support
health. WuXi NextCODE is a wholly owned subsidiary of WuXi AppTec,
the operating subsidiaries of WuXi PharmaTech (NYSE: WX).
Contact:
Edward Farmer
Vice President, Communications and New Ventures
efarmer@wuxinextcode.com
Tel: (781) 775-6206
About Claritas Genomics
Claritas Genomics serves
children affected with complex genetic disorders by providing
timely and accurate results, resolving families' long search for
answers. By combining clinical expertise of the world's best
pediatric specialists with innovative platform solutions, Claritas
is working to improve patient care and enable new discoveries.
For more information about Claritas Genomics, visit
www.claritasgenomics.com
Contact:
Betsy Stevenson
Director of Corporate Communications
betsy.stevenson@claritasgenomics.com
Tel: (860) 984-1424
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