GeneDx Publishes Pioneering Vision for Applying AI to Genomics to Improve and Expedite Diagnosis of Genetic Disease at Scale

May 22, 2025 at 08:00 AM EDT

Company deploying AI to scale industry-leading rare disease dataset to diagnose growing number of patients with genetic disease, published in the American Journal of Medical Genetics

GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, today announced the publication of a new article in the American Journal of Medical Genetics, demonstrating GeneDx’s leadership in applying artificial intelligence (AI) to accelerate and enhance genetic diagnostics. The article was published as part of an essay collection written by global experts addressing how AI is shaping, and will continue to shape, the future of medical genetics.

The GeneDx-authored article, “AI in the Clinical Genomics Laboratory,” underscores the promise of harnessing AI to increase diagnostic yield, reduce manual workflows, and scale precision medicine for all patients with suspected genetic conditions.

“AI can be a powerful tool to enhance the expertise of clinical genetics professionals,” said Tim Laurent, Director of AI at GeneDx. “From extracting phenotypic data from clinical notes to prioritizing genetic variants, we’re building intelligent, transparent systems that work hand-in-hand with our expert team of geneticists to accelerate diagnosis while ensuring accuracy.”

With one of the world’s most comprehensive and clinically curated genomic and phenotypic datasets, GeneDx has a durable strategic advantage in training and deploying AI models for diagnostics. This depth of data enables faster, more accurate diagnoses, and builds on a foundation of agile AI infrastructure, which allows GeneDx to drive transformational scale and efficiency across an already differentiated interpretation and analysis platform.

As the cost of genomic sequencing continues to decline and guidelines increasingly recommend exome and genome sequencing as standard of care, the volume of patients eligible for testing is expected to outpace the capacity of the current genetics workforce. GeneDx is strategically leveraging its unique dataset and cutting-edge AI technologies to close that gap.

“AI is not just a tool for efficiency and streamlining operations, it’s an engine for discovery,” said Bryan Dechairo, Chief Operating Officer at GeneDx. “Because AI is only as powerful as the data it's trained on, GeneDx is uniquely positioned to embed AI across our business – from clinical interpretation to lab operations – to meet the growing demand for genomic testing and deliver answers at scale.”

The publication comes on the heels of GeneDx’s acquisition of Fabric Genomics, a leader in AI interpretation. Together, GeneDx and Fabric Genomics are ushering in the next era of genomic medicine, enabling decentralized testing powered by centralized intelligence to set the standard of care across the globe.

About GeneDx:

At GeneDx (Nasdaq: WGS), we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis. Fueled by one of the world’s largest, rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery, and improve health system efficiencies. For more information, please visit genedx.com and connect with us on LinkedIn, Facebook, and Instagram.

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