GeneDx’s 79 Studies in 2025 and JAMA-Honored GUARDIAN Reinforce Genomics Leadership

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GeneDx published 79 peer-reviewed studies in 2025—bringing its total to over 1,100—and presented four strategic publications, 56 GeneMatcher-enabled discoveries and 38 conference abstracts. Its GUARDIAN newborn screening study was recognized in JAMA’s Research of the Year roundup, reinforcing GeneDx’s leadership in rare disease genomic diagnostics.

1. GeneDx Appoints Dr. Linda Genen as Chief Medical Officer to Propel Genomic Integration

GeneDx has named Dr. Linda Genen, MD, MPH as Chief Medical Officer, tasking her with overseeing Medical and Clinical Affairs and leading the company’s clinical strategy. In this capacity, Dr. Genen will spearhead initiatives to integrate exome and genome testing into routine care pathways, working with payers, health systems and policymakers to drive earlier diagnoses. She joins from ProgenyHealth, where as CMO she directed analytics and quality programs that reduced maternal and neonatal complication rates by 15% across a network of 120 hospitals. At GeneDx, she will also guide real-world evidence programs leveraging the company’s nearly one million-sample rare disease dataset to support payer coverage decisions and shape regulatory policy.

2. Record-Setting Research Output Reinforces Leadership in Rare Disease Genomics

In 2025, GeneDx published 79 peer-reviewed studies—bringing its cumulative total to over 1,100—and contributed 56 GeneMatcher-enabled discoveries and 38 strategic abstracts at major scientific conferences. Highlights include the GUARDIAN newborn screening study, selected among JAMA’s Research of the Year, demonstrating a 32% increase in early detection of actionable conditions versus standard panels. The SeqFirst Neo and SeqFirst Floor programs showed rapid genome sequencing cut time to diagnosis by 45% in NICU and non-critical pediatric settings respectively. Collaborative efforts supported 175 clinicians across 74 institutions, yielding 31 new gene-disease associations in 2025 and diagnoses for 136 previously unresolved cases, further cementing GeneDx’s role in translating genomic discovery into clinical care.

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