• Faster Turnaround Time for Rapid Whole Genome Sequencing (rWGS), Buccal Sample Types and Additional Repeat Expansions to Become Commercially Available

STAMFORD, Conn. / Jul 30, 2024 / Business Wire / 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.