FDA Grants Breakthrough Device Designation to GeneDx Whole Genome and Exome Diagnostic Tests

The U.S. Food and Drug Administration (FDA) has granted Breakthrough Device Designation to GeneDx’s clinical whole-genome (GenomeDx) and whole-exome (ExomeDx) sequencing assays. The designation applies to the company’s tests used in the diagnosis of symptomatic patients with suspected life-threatening or severely debilitating genetic disorders.

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. 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.

Mimi Lee, MD, PhD, Chief Precision Medicine Officer at GeneDx

The FDA’s Breakthrough Device program is intended to expedite the assessment of diagnostic and therapeutic technologies that may offer substantial improvements in clinical effectiveness over existing options. This designation facilitates prioritized regulatory interaction and review, potentially accelerating patient access to novel genomic diagnostics pending future FDA authorization.

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

Katherine Stueland, President and Chief Executive Officer at GeneDx

GeneDx, a U.S.-based clinical genomics company operating a CLIA-certified and CAP-accredited laboratory, has reported conducting more than 2.5 million clinical genetic tests to date. The ExomeDx assay targets the protein-coding regions of the genome, where the majority of pathogenic variants are found, while GenomeDx provides comprehensive sequencing coverage of both coding and non-coding regions. The latter enables the detection of structural, intronic, and regulatory variants often missed by targeted gene panels or chromosomal microarray analyses.

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

Katherine Stueland, President and Chief Executive Officer at GeneDx

Both assays are supported by the GeneDx Infinity™ platform, comprising nearly one million sequenced exomes and genomes and approximately seven million associated phenotypic data points. The platform employs next-generation sequencing and bioinformatic interpretation pipelines optimized for variant detection across diverse populations.