Key Highlights
- Faster Turnaround Time: Written results in as soon as 5 days through lab optimization.
- Buccal Samples: Easier, non-invasive sample collection method for WGS patients.
- Repeat Expansions: Increased coverage to improve diagnostic yield and reduce follow-up testing.
Source: Business Wire
Notable Quotes
- “Whole genome sequencing has transformed healthcare and GeneDx is committed to delivering comprehensive, timely information to families at their most critical moments. 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.” — Paul Kruszka, MD, Chief Medical Officer at GeneDx
- “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.” — Monica Hsiung Wojcik, MD, MPH, Attending Neonatologist and Clinical Geneticist at Boston Children’s Hospital
SoHC's Take
GeneDx’s enhancements to its Whole Genome Sequencing (WGS) are poised to significantly impact the landscape of genetic diagnostics. The reduction in turnaround time to just 5 days for Rapid Whole Genome Sequencing (rWGS) is a crucial step in expediting treatment decisions, which can be life-saving in many cases. The introduction of buccal samples for WGS patients marks an important shift towards more accessible and patient-friendly testing options, particularly for younger patients. Furthermore, the expanded coverage of repeat expansions within their WGS offering is expected to enhance diagnostic accuracy, reducing the need for additional follow-up tests. These advancements reinforce GeneDx’s position at the forefront of genomic medicine, leveraging their extensive dataset to deliver precise and timely health insights that promise to improve patient outcomes significantly.
