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GeneDx was founded in 2000 by scientists Sherri Bale and John Compton from the National Institutes of Health (NIH). The company was established to provide clinical diagnostic services for patients and families with rare and ultra-rare disorders, for which limited commercial testing options existed at the time. The company started in the Technology Development Center, a biotech incubator supported by the state of Maryland and Montgomery County, MD.
In 2006, GeneDx was acquired by BioReference Laboratories and continued to operate as a subsidiary. In October 2016, Benjamin D. Solomon was appointed as managing director.
In 2021, Katherine Stueland became CEO of GeneDx. GeneDx was acquired by Sema4 in 2022, and Stueland was named CEO of the combined company. In 2023, the combined company underwent a strategic transformation, refocusing on whole exome and genome sequencing in pediatrics, and changed its name to GeneDx.
In 2025 GeneDx was named one of Fast Company 's Most Innovative Companies, ranked No.2 in the Biotech category. The recognition highlighted the company's work in advancing genomic sequencing and data-driven approaches to improve rare disease diagnosis.
GeneDx settled a patent dispute with Myriad Genetics in February 2015 after GeneDx launched a BRCA mutation breast cancer genetic screening test following the US Supreme Court decision in Association for Molecular Pathology v. Myriad Genetics, Inc. that concluded isolated gene sequences were patent ineligible.