GeneDx Advances Clinical Adoption of Genomic Medicine with 27 Abstracts at ASHG 2026

Research strengthens the evidence for exome and genome sequencing as standard of care across rare disease, autism, newborn screening and beyond

GAITHERSBURG, Md., October 19, 2026--GeneDx, the leader in rare disease diagnosis and improving health through the power of genomic data, today announced 27 accepted scientific abstracts at the American Society of Human Genetics (ASHG) 2026 Annual Meeting, highlighting how exome and genome sequencing are advancing scientific discovery, earlier diagnosis and more precise care.

GeneDx research at ASHG 2026 highlights five areas:

• Scaling genomic interpretation with AI and machine learning: A GeneDx-led platform presentation explores machine learning to prioritize relevant copy number variants (CNVs), reflecting the company's human-first, human-last approach to leveraging AI decision support tools in exome and genome sequencing analysis.

• Advancing exome and genome sequencing as standard of care: Research from more than 100,000 individuals with autism examines factors influencing molecular diagnostic yield, adding evidence to support broad genomic testing for complex neurodevelopmental conditions.

• Translating clinical data into actionable insights: Studies explore genotype-first reanalysis, emerging genotype-phenotype associations, rare variant detection and the health-economic value of first-line exome and genome sequencing.

• Accelerating gene discovery: Nine abstracts using GeneDx Infinity™, GeneMatcher and global research collaborations to identify novel disease-associated genes and expand understanding of developmental and neurodevelopmental disorders.

• Expanding equitable genomic newborn screening: Findings from the GUARDIAN study examine positive rates and variant findings in more than 19,000 newborns across diverse genetic ancestries, informing the implementation of genomic newborn screening at scale.

"Advancing genomic medicine means turning scientific discovery into meaningful answers for patients," said Linda Genen, MD, MPH, Chief Medical Officer at GeneDx. "Through our clinical data, technology and research collaborations, we're building the evidence to make exome and genome sequencing a more accessible and actionable part of care across specialties and throughout life."

The research includes three platform presentations, three rapid-fire poster talks and a Reviewer's Choice poster, an honor awarded to the top 10% of posters at ASHG.

Featured GeneDx-Led and Collaborative Presentations
Platform Presentations: