The designation accelerates regulatory review for GeneDx’s ExomeDx and GenomeDx testing platforms designed to diagnose rare diseases.
The US Food and Drug Administration (FDA) has granted Breakthrough Device Designation to GeneDx for its whole genome and exome tests used to diagnose life-threatening diseases and genetic disorders in symptomatic patients.
The designation applies to GeneDx’s ExomeDx and GenomeDx testing platforms, which are designed to detect genetic variants associated with rare diseases. ExomeDx covers protein-coding regions where most disease-causing variants occur, while GenomeDx sequences the entire genome to identify structural and non-coding variants that may be missed by targeted panels and chromosomal microarray testing.
GeneDx has performed more than 2.5 million genetic tests in its CLIA-certified, CAP-accredited clinical laboratory. The tests use next-generation sequencing technology and are powered by GeneDx Infinity, a dataset containing nearly 1 million sequenced exomes and genomes and more than 7 million phenotypic datapoints.
“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,” says Mimi Lee, MD, PhD, chief precision medicine officer at GeneDx, in a release.
Katherine Stueland, president and chief executive officer at GeneDx, adds in a release, “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.”
Clinical Applications
The tests are intended to serve as starting points for patients with rare diseases and unexplained symptoms, rather than last-resort options after other testing methods have been exhausted. The platform aims to reduce diagnostic delays that patients with rare genetic conditions typically experience.
GeneDx’s dataset includes genetic information from diverse populations, which the company says helps deliver reliable results across different patient groups. The tests detect variants that may not be identified through traditional genetic testing approaches.
“As a trusted partner across the healthcare ecosystem, working collaboratively with clinicians, patients, biopharma—and now with FDA—the Breakthrough designation is another milestone advancing our shared mission of making precision medicine the standard of care for all,” says Stueland in a release.
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