GeneDx Announces Whole Genome Sequencing (WGS) Product Enhancements to Accelerate Diagnoses for More Patients
30 Luglio 2024 - 10:05PM
Business Wire
Faster Turnaround Time for Rapid Whole Genome
Sequencing (rWGS), Buccal Sample Types and Additional Repeat
Expansions to Become Commercially Available
GeneDx (Nasdaq: WGS), a leader in delivering improved health
outcomes through genomic insights, today announced major
enhancements to its Whole Genome Sequencing (WGS) offering, aiming
to accelerate diagnoses and shorten the diagnostic odyssey for
patients. These new features include:
- Faster Turnaround Time for Rapid Whole Genome Sequencing
(rWGS): Through its lab optimization efforts, GeneDx is
significantly reducing rWGS turnaround time to provide written
results in as soon as 5 days, a critical update for timely
diagnosis and treatment decisions.
- Buccal Samples (Cheek Swab): GeneDx will expand its
sample collection options, adding buccal swab for WGS patients,
enabling an easier and more accessible non-invasive sample
collection method for even the youngest patients. *Buccal samples
were only previously available to family members for trio
testing.
- Repeat Expansions: GeneDx will be expanding the number
of repeat expansions covered by WGS to increase diagnostic yield
and improve the provider and patient experience by decreasing the
need for follow-up testing.
"Whole genome sequencing has transformed healthcare and GeneDx
is committed to delivering comprehensive, timely information to
families at their most critical moments,” said Paul Kruszka, MD,
Chief Medical Officer at GeneDx. “These significant improvements to
our whole genome sequencing, combined with GeneDx’s unrivaled
dataset, means a faster and more accurate diagnosis that will
ultimately lead to better health outcomes for patients today and in
the future.”
GeneDx has sequenced more than 665,000 clinical exomes and
genomes, resulting in one of the largest, most sophisticated and
diverse genomic datasets. In combination with its industry leading
dataset and product enhancements, GeneDx will improve the
accessibility and effectiveness of whole genome sequencing for
diagnostic purposes – ultimately working to stop or reduce the
progression of both common and rare disease.
"Genome sequencing offers a pivotal advantage: the capability to
detect various types of genomic variations through a single,
comprehensive test – an advancement far surpassing the tiered
testing approach with panels," said Monica Hsiung Wojcik, MD, MPH,
Attending Neonatologist and Clinical Geneticist at Boston
Children's Hospital. "Continued evidence underscores genome
sequencing as the primary diagnostic tool for individuals suspected
of rare diseases, especially with ongoing improvements in cost and
accessibility. Its streamlined approach to genetic diagnosis
delivers profound benefits for both families and healthcare
systems."
About GeneDx:
GeneDx (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 services, fueled by the world’s
largest, rare disease data sets. For more information, please visit
www.genedx.com and connect with us on LinkedIn, Facebook, and
Instagram.
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