GeneDx To Present New Research At The National Society Of Genetic Counselors Conference, November 11-14; Data Show 62% Of Patients With Pathogenic Or Likely Pathogenic Findings Had Results Associated With Opportunities To Inform Medical Management
Benzinga Newsdesk 16 hours ago
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New research analyzing exome and genome sequencing results from more than 300,000 patients found that 62% of patients with pathogenic or likely pathogenic findings (62,459 of 101,390) had results associated with medical
New research analyzing exome and genome sequencing results from more than 300,000 patients found that 62% of patients with pathogenic or likely pathogenic findings (62,459 of 101,390) had results associated with medical actionability, including opportunities to inform treatment, disease surveillance, acute management and long-term care. These findings demonstrate the potential impact of genomic sequencing to guide clinical decisions and inform care beyond the initial diagnosis.
Additional research highlights:
The Ripple Effect of Gene Discovery: Real-World Impact of GeneMatcher-Facilitated Collaborations – As one of the largest contributors to GeneMatcher, GeneDx's collaborative research contributed to 792 definitive diagnoses over 4.5 years, with more than 90% of 103 candidate gene publications resulting in at least one validated gene-disease association or gene upgrade. The findings demonstrate how continued gene discovery can deliver answers to previously undiagnosed patients – November 11, 5:30 p.m. Poster number: GENT211
The Diagnostic Yield of Exome and Genome Sequencing in a Large and Diverse Cohort of Over 300,000 Patients: Context Matters – Research involving more than 300,000 patients reinforces the importance of clinical context in understanding diagnostic yield – November 12, 4:30 p.m. Poster number: GENT200
Assessing Medical Actionability of Exome and Genome Sequencing Results in Over 300,000 Individuals from a Large Real-World Diagnostic Cohort – November 12, 4:30 p.m. Poster number: IND264
Scalable Genomic Consent in the NICU and Beyond – Highlighting the expansion of the My46 digital engagement platform to support genomic counseling and consent in neonatal intensive care settings and beyond. Poster format: Virtual
GeneDx will also participate in three educational sessions:
CSI: Clinical Sequencing Investigation: Applying Genomic Evidence to Solve the Case | November 11, 12:15–1:30 p.m. A GeneDx-sponsored interactive symposium led by Britt Johnson, PhD, FACMG and Flavia Facio, MS, CGC, demonstrating how genomic evidence and AI-powered tools support clinical interpretation.
Beyond Algorithms: How AI and Machine Learning Leverage Large-Scale Data to Inform Gene Curation and Variant Classification at Scale | November 11, 2–3 p.m. Exploring how AI and machine learning can support gene curation and variant classification while emphasizing clinical judgment and human oversight.
Hire Power: Unleashing Your Inner Business Case Superhero | November 13, 1:45–3:45 p.m. Equipping genetic counselors with practical tools to advocate for expanded services and improve patient access to care.