GeneDx, a leading company in genomic diagnostics, announced that the U.S. Food and Drug Administration has granted its whole genome and whole exome tests Breakthrough Device Designation. These tests focus on identifying the genetic causes of serious and life-threatening diseases to assist in diagnosing patients showing symptoms of such conditions.
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Mimi Lee, MD, PhD, Chief Precision Medicine Officer at GeneDx, emphasized that relying on genetic information rather than symptoms alone can greatly improve patient outcomes. She explained that this approach can help patients and their families avoid the often lengthy and challenging process of finding a diagnosis. According to her, the FDA’s recognition of GeneDx’s ExomeDx and GenomeDx tests highlights the importance of comprehensive genomic testing as a primary tool in evaluating patients with rare diseases and unclear symptoms.
GeneDx has performed over 2.5 million genetic tests in its clinical laboratory, which is CLIA certified and CAP accredited. The ExomeDx test analyzes protein-coding regions where most disease-causing mutations occur. The GenomeDx test goes further by sequencing the entire genome, allowing for the detection of structural and non-coding variants that other tests such as targeted panels or chromosomal microarrays might miss.
Powered by GeneDx Infinity, the largest and most diverse rare disease database with close to one million sequenced genomes and exomes and over seven million phenotypic data points, these tests use next-generation sequencing technology to deliver fast and accurate results across diverse populations.
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Katherine Stueland, President and CEO of GeneDx, said that by combining this extensive rare disease dataset with artificial intelligence and clinical expertise, the company is well positioned to provide faster and more dependable diagnoses. She noted the urgency for families who have endured long waits for answers and how GeneDx is committed to changing that.
The FDA Breakthrough Device Designation is reserved for innovative technologies that have the potential to improve diagnosis or treatment for life-threatening or severely disabling conditions. This status gives GeneDx a faster and more collaborative review process with the FDA, helping bring these important diagnostic tools to patients throughout the United States more quickly.
Stueland also stressed that this milestone reflects GeneDx’s role as a trusted partner in healthcare. By working closely with clinicians, patients, biopharma companies, and now the FDA, GeneDx continues to advance its goal of making precision medicine the standard of care for all patients.
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