GeneDx Granted FDA Breakthrough Device Designation for its ExomeDx and GenomeDx Testing

GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced that the U.S. Food and Drug Administration (FDA) has granted Breakthrough Device Designation for its whole genome and exome tests associated with causes of life-threatening diseases or genetic disorders to aid in diagnosis of symptomatic patients.

With more than 2.5 million genetic tests performed in its CLIA certified, CAP accredited clinical laboratory, GeneDx continues to advance clinical genomic testing for rare diseases. The GeneDx ExomeDx covers the protein-coding regions, where most disease-causing variants occur, while GenomeDx sequences the entire genome to detect structural and non-coding variants often missed by other genetic testing methods like targeted panels and chromosomal microarray.

“Diagnosis informed by an individual’s genetics rather than symptoms alone can lead to improved clinical outcomes and help eliminate the typically years-long ‘diagnostic odyssey’ faced by these patients and families,” said Mimi Lee, MD, PhD, Chief Precision Medicine Officer at GeneDx. “The FDA Breakthrough Device Designation for our ExomeDx and GenomeDx tests underscores what clinical practice has shown for years, that comprehensive genomic testing should be the starting point – not the last resort – for patients with rare diseases and unexplained symptoms.”

GeneDx’s whole genome and whole exome tests are powered by GeneDx Infinity – the largest and most diverse rare-disease dataset, with nearly one million sequenced exomes and genomes and over 7 million phenotypic datapoints – and use next generation sequencing technology to deliver fast, reliable results across all populations.

"By combining the industry's largest and most diverse rare-disease dataset with advanced AI and deep clinical expertise, GeneDx is positioned to help clinicians deliver faster, more reliable diagnoses for families who have waited far too long for answers,” said Katherine Stueland, President and Chief Executive Officer at GeneDx.

FDA Breakthrough Device Designation is reserved for technologies that have demonstrated the potential to provide more effective diagnosis or treatment for life-threatening or irreversibly debilitating diseases. The designation provides GeneDx with an expedited pathway for FDA review – including prioritized feedback and closer collaboration with the agency – designed to accelerate the availability of safe and effective innovative diagnostic devices for patients in all 50 states.