A leader in genomic insights, GeneDxannounced that the U.S. Food and Drug Administration (FDA) granted Breakthrough Device Designation for its whole genome (GenomeDx™) and whole exome tests (ExomeDx™)

This designation was granted for the tests' role in aiding the diagnosis of symptomatic patients afflicted with life-threatening diseases or genetic disorders, highlighting GeneDx's innovation and setting the stage for an accelerated pathway to FDA authorization.

The company, which has performed over 2.5 million genetic tests, positions its comprehensive genomic testing as the crucial starting point for patients facing rare diseases and unexplained symptoms, aiming to eliminate the typically years-long "diagnostic odyssey" and lead to improved clinical outcomes. Specifically, the ExomeDx test focuses on the protein-coding regions where most disease-causing variants occur, while the GenomeDx sequences the entire genome to capture structural and non-coding variants often missed by other methods like targeted panels.

These diagnostic tools are powered by GeneDx Infinity™, which is described as the largest and most diverse rare-disease dataset, encompassing nearly one million sequenced exomes and genomes and over seven million phenotypic datapoints, all leveraged with advanced AI and deep clinical expertise. The FDA's Breakthrough Device Designation is reserved for technologies with the potential for a more effective diagnosis or treatment of life-threatening or irreversibly debilitating conditions, providing GeneDx with an expedited review path, including prioritized feedback and closer collaboration with the agency, thereby accelerating the availability of safe and effective innovative diagnostic devices. GeneDx emphasized that this milestone is another step in its shared mission with the healthcare ecosystem to make precision medicine the standard of care, transforming the practice of medicine by making genomics the starting point for health.