FDA grants Breakthrough Device Designation to GeneDx genomic tests

The U.S. Food and Drug Administration has granted Breakthrough Device Designation to GeneDx’s whole genome and exome tests, which are designed to identify the genetic causes of life-threatening diseases in symptomatic patients, the company announced.

The designation is intended to expedite review of medical technologies that have the potential to provide more effective diagnosis or treatment for serious or debilitating conditions. With the decision, GeneDx will receive prioritized feedback from the FDA and a faster review pathway, positioning its genomic tests for earlier availability across all 50 states.

“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.

GeneDx’s ExomeDx test focuses on the protein-coding regions of DNA, where most disease-causing variants are found, while GenomeDx sequences the full genome to detect structural and non-coding variants that other testing methods may miss. The tests are powered by the company’s proprietary database containing nearly one million sequenced exomes and genomes.

Katherine Stueland, president and CEO of GeneDx, said the designation reflects years of clinical practice showing that comprehensive genomic testing should be a first-line option for individuals with rare or unexplained symptoms. “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,” she said.

Advances in genomic diagnostics and precision medicine

Breakthroughs in genomic testing are reshaping how clinicians diagnose and manage rare diseases. Recent advances have focused on accelerating time to diagnosis, improving detection rates across diverse populations, and integrating genomic insights into everyday clinical workflows. Increasingly, whole genome and exome sequencing are replacing targeted gene panels as first-line diagnostic tools, especially in cases involving critically ill infants, rare neurological disorders, and unexplained developmental delays.

One of the most significant trends is the integration of artificial intelligence and machine learning into genomic interpretation. AI tools are increasingly used to identify pathogenic variants, predict disease risk, and match patients with the most relevant treatment pathways. These tools can analyze millions of genetic datapoints in minutes, drastically reducing the time required for clinical interpretation and helping overcome limitations in human-driven analysis.

Another area of progress is the development of databases that represent a wider range of ethnic and genetic backgrounds. Historically, genomic data has been disproportionately derived from individuals of European descent, limiting the diagnostic effectiveness of tests for underrepresented populations. Newer datasets now incorporate diverse genomic profiles, allowing for more accurate variant classification and reducing health disparities in genetic medicine.

Additionally, clinicians are increasingly using genomic diagnostics to guide therapeutic decisions rather than solely to confirm diagnoses. In emerging care models, genetic insights can direct medication selection, identify patients who are more likely to benefit from targeted therapies, and prevent adverse drug reactions. Hospitals and health systems are also adopting rapid sequencing protocols in neonatal and intensive care settings, enabling life-saving treatment decisions within days rather than months or years.

As regulatory pathways continue to evolve, precision medicine is moving closer to becoming a standard part of clinical care. Genomic testing is increasingly being deployed proactively rather than reactively, signaling a shift toward prevention and early intervention for genetic diseases that previously went undetected until symptoms became severe.