GeneDx Research Demonstrates Medical Actionability of Exome and Genome Sequencing Results in Large Real-World Study of More Than 300,000 Patients
Business Wire•10/11/2026•08:30 ET
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Key Highlights
- ➤62% of patients with pathogenic findings had medically actionable results
- ➤GeneDx research analyzed sequencing results from more than 300,000 patients
- ➤GeneMatcher collaborations contributed to 792 definitive diagnoses over 4.5 years
- ➤More than 90% of 103 candidate-gene publications validated associations or upgraded genes
- ➤GeneDx expanded My46 digital genomic consent platform into neonatal intensive care settings
Expert Statements
Linda Genen, Chief Medical Officer of GeneDx
“A genetic diagnosis has the power to change the course of care”
Linda Genen, Chief Medical Officer of GeneDx
“Our research reinforces the clinical impact of genomic sequencing, not only in delivering answers, but in identifying potential opportunities to inform treatment and change medical management.”
Linda Genen, Chief Medical Officer of GeneDx
“By equipping genetic counselors with the data, technology and expertise to translate these insights into action, we can help more patients and families realize the full value of genomic medicine.”
GeneDx Research Demonstrates Medical Actionability of Exome and Genome Sequencing Results in Large Real-World Study of More Than 300,000 Patients
Findings presented at NSGC 2026 show 62% of patients with pathogenic or likely pathogenic findings had results associated with opportunities to inform medical management
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