GeneDx Holdings Corp. announced a record-setting year in 2025 for its Medical Affairs and research programs, publishing 79 peer-reviewed studies and surpassing a total of 1,100 publications related to rare disease genomics. Among the most notable was the GUARDIAN (Genomic Uniform-screening Against Rare Disease In All Newborns) study, which received recognition in JAMA's annual Research of the Year Roundup for its findings on the effectiveness of genomic newborn screening in identifying serious, actionable childhood conditions beyond traditional methods. In addition, GeneDx advanced genome-first clinical care with publications such as SeqFirst Neo, supporting rapid genome sequencing for critically ill newborns, and SeqFirst Floor, demonstrating first-tier rapid genome sequencing in non-critical pediatric wards. These results have already been published. The company also reported contributions to 56 GeneMatcher publications in 2025, facilitating global collaboration and resulting in 31 newly clinically validated gene-disease associations.

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