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GeneDx Research Demonstrates Medical Actionability of Exome and Genome Sequencing Results in Large Real-World Study of More Than 300,000 Patients

WGS
  • GeneDx presented new research at the NSGC 2026 Annual Conference on November 11–14, 2026, focusing on translating genomic data into informed patient care.
  • Analysis of exome and genome sequencing results from over 300,000 patients revealed that 62% of those with pathogenic or likely pathogenic findings had results associated with medical actionability.
  • The study included 62,459 patients out of 101,390 with actionable findings that could inform treatment, disease surveillance, acute management, or long-term care.
  • Collaborative research via GeneMatcher contributed to 792 definitive diagnoses over 4.5 years, with over 90% of 103 candidate gene publications leading to validated gene-disease associations or gene upgrades.
  • Research emphasized the importance of clinical context in understanding diagnostic yield within a large and diverse cohort of over 300,000 patients.
  • GeneDx highlighted the expansion of its My46 digital engagement platform to support genomic counseling and consent in neonatal intensive care settings.
  • The company participated in three educational sessions covering AI-powered clinical interpretation, machine learning for gene curation, and tools for genetic counselors to advocate for expanded services.
  • GeneDx utilizes its GeneDx Infinity dataset to power FDA Breakthrough Device designated tests ranked #1 by expert geneticists.
  • Linda Genen, MD, MPH, Chief Medical Officer of GeneDx, stated that genetic diagnoses have the power to change the course of care by identifying opportunities to inform treatment.