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GeneDx Leads Rare Disease Genomics with Unmatched Research and Clinical Impact in 2025
Industry-leading research powered by GeneDx Infinity™ accelerates the transition of genomics from discovery to the standard of clinical care, driving better
About this update from Genedx Holdings Corp.
[{"type":"text","content":"\nIndustry-leading research powered by GeneDx Infinity™ accelerates the transition of genomics from discovery to the standard of clinical care, driving better outcomes for patients across healthcare settings\n\n\n GAITHERSBURG, Md.--(BUSINESS WIRE)--\nGeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced a record-setting year for its Medical Affairs and research programs, reinforcing its position as the global leader in rare disease genomics. In 2025, GeneDx published 79 peer-reviewed studies bringing its total to over 1,100 peer-reviewed studies – all powered by GeneDx Infinity™ – delivering the most prolific and clinically impactful research portfolios in rare disease genomics.\n\n\nGeneDx Infinity™, the world’s largest rare disease genomic dataset, is built on more than 25 years of real-world clinical experience and includes nearly 1 million exomes and genomes enriched for rare disease and deep phenotypic data across diverse populations. This continuously growing dataset fuels GeneDx’s industry-leading research, enabling precise diagnosis, faster discovery, stronger evidence generation, and precision genomic medicine across healthcare settings.\n\n\nGeneDx’s 2025 research output included four strategic, practice-shaping publications, 56 GeneMatcher-enabled discoveries, and 38 strategic conference abstracts presented at the world’s leading medical and scientific forums. Together, these contributions demonstrate GeneDx’s unmatched ability to move genomics beyond research and into routine clinical care – setting the standard for how genome-first medicine is delivered across newborn, pediatric, and rare disease populations.\n\n\nAmong the year’s most influential was the GUARDIAN (Genomic Uniform-screening Against Rare Disease In All Newborns) study which was recognized as part of JAMA’s annual Research of the Year Roundup. This highly selective honor is reserved for the most impactful scientific contributions published across all JAMA journals. The recognition highlights the significance of GUARDIAN’s peer-reviewed findings, which demonstrate the power of genomic newborn screening to identify serious, actionable childhood conditions more broadly than traditional newborn screening.\n\n\nGeneDx also advanced genome-first clinical care across multiple care settings through a ...