Summary: GeneDx has announced significant enhancements to its whole genome sequencing (WGS) services, including faster turnaround times, expanded sample collection options, and broader coverage of repeat expansions, all aimed at accelerating diagnoses and improving health outcomes.
Takeaways:
- Accelerated Diagnosis: GeneDx’s optimization efforts have reduced the turnaround time for rapid Whole Genome Sequencing (rWGS) to as little as five days, enabling quicker diagnosis and treatment decisions.
- Expanded Accessibility: The addition of buccal swab sample collection offers a non-invasive, easier method for WGS, making it more accessible, particularly for younger patients.
- Improved Diagnostic Yield: By increasing the number of repeat expansions covered by WGS, GeneDx enhances diagnostic accuracy, reducing the need for follow-up testing and improving the overall patient experience.
GeneDx, an organization seeking to improve health outcomes through genomic insights, 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 five 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.
- 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,” says 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.”’
About GeneDX
GeneDx has sequenced more than 665,000 clinical exomes and genomes, resulting in sophisticated and diverse genomic datasets. In combination with its datasets 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, the company says.
“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,” says 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.”
