GeneDx’s ExomeDx and GenomeDx tests, now FDA Breakthrough Designated, offer comprehensive genomic analysis to improve diagnosis of rare and serious diseases.
In October, the
Mimi C. Lee, MD, PhD, Chief of Precision Genetic Medicine at GeneDx, described the tests as critical tools for understanding patients’ underlying conditions at the genomic level.
“Just like any objective test that we as physicians order in the hospital in order to get a full, complete picture of what’s going on with the patient, the ability now to be able to look at the genomic level, to understand whether or not there are indications in their genome that can point to what is causing their condition, and hence their suffering, is something that we have now ready to use as a tool,” Lee said.
Combined with GeneDx Infinity, a dataset of nearly one million sequenced exomes and genomes and more than seven million phenotypic datapoints, these tests enable rapid and reliable interpretation of genomic findings across diverse populations. The FDA designation allows for prioritized feedback and enhanced interaction with the agency, supporting faster access to these innovative diagnostic tools.
Lee emphasized that genomic testing should be considered a starting point, not a last resort.
“The exome is different from whole genome sequencing in that the exome accounts for about 2% of the human genome…Whole genomes include everything in between those protein-coding regions…we’re going to very rapidly learn more about how they also can potentially contribute to disease and suffering.”
Reference:
Ebert M. GeneDx receives FDA Breakthrough Device Designation for whole genome and exome tests. Contemporary Pediatrics. Published November 10, 2025. Accessed December 15, 2025. https://www.contemporarypediatrics.com/view/genedx-receives-fda-breakthrough-device-designation-for-whole-genome-and-exome-tests
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